Variant report

Variant	esv3388028
Chromosome Location	chr3:142681537-142683935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:142682173-142682756	HepG2	liver:	n/a	n/a
2	BACH1	chr3:142682239-142682277	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr3:142682659-142682885	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr3:142681488-142681662	K562	blood:	n/a	n/a
5	CCNT2	chr3:142682282-142683220	K562	blood:	n/a	n/a
6	CEBPB	chr3:142682697-142682849	HepG2	liver:	n/a	n/a
7	CHD1	chr3:142682054-142682146	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr3:142682452-142682822	HepG2	liver:	n/a	n/a
9	CHD2	chr3:142681543-142681857	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr3:142682570-142683425	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr3:142682606-142682990	K562	blood:	n/a	n/a
12	CREB1	chr3:142682486-142683471	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr3:142682537-142683438	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:142682260-142682410	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr3:142682200-142682350	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr3:142681840-142681990	SAEC	small airway:	n/a	n/a
17	CTCF	chr3:142682205-142682231	GM10248	blood:	n/a	n/a
18	CTCF	chr3:142682240-142682390	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr3:142682170-142682307	A549	lung:	n/a	n/a
20	CTCF	chr3:142682232-142682235	GM12878	blood:	n/a	n/a
21	CTCF	chr3:142682088-142682371	HepG2	liver:	n/a	n/a
22	CTCF	chr3:142682217-142682240	GM19240	blood:	n/a	n/a
23	CTCF	chr3:142682160-142682310	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr3:142682186-142682281	Fibrobl	skin:	n/a	n/a
25	CTCF	chr3:142682218-142682240	GM10266	blood:	n/a	n/a
26	CUX1	chr3:142682278-142682381	K562	blood:	n/a	n/a
27	E2F4	chr3:142682312-142683324	K562	blood:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
28	E2F6	chr3:142682271-142682899	K562	blood:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
29	E2F6	chr3:142681102-142682892	H1-hESC	embryonic stem cell:	n/a	chr3:142682194-142682208 chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
30	E2F6	chr3:142681208-142682147	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr3:142682757-142683364	H1-hESC	embryonic stem cell:	n/a	chr3:142682773-142682782
32	E2F6	chr3:142682319-142682903	A549	lung:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
33	E2F6	chr3:142682328-142682917	K562	blood:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
34	E2F6	chr3:142682298-142683261	K562	blood:	n/a	chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
35	EBF1	chr3:142683164-142683177	GM12878	blood:	n/a	n/a
36	EGR1	chr3:142682164-142682853	K562	blood:	n/a	chr3:142682777-142682786 chr3:142682179-142682189
37	EGR1	chr3:142682167-142682931	K562	blood:	n/a	chr3:142682777-142682786 chr3:142682179-142682189
38	ELF1	chr3:142682541-142683200	K562	blood:	n/a	chr3:142682542-142682551 chr3:142682745-142682757 chr3:142682545-142682554 chr3:142682547-142682559 chr3:142682770-142682779 chr3:142682541-142682553
39	ELF1	chr3:142682415-142682864	GM12878	blood:	n/a	chr3:142682542-142682551 chr3:142682745-142682757 chr3:142682545-142682554 chr3:142682547-142682559 chr3:142682770-142682779 chr3:142682541-142682553
40	EP300	chr3:142682229-142682897	ECC-1	luminal epithelium:	n/a	chr3:142682543-142682552 chr3:142682745-142682754 chr3:142682543-142682559 chr3:142682548-142682557
41	EP300	chr3:142682472-142682838	HepG2	liver:	n/a	chr3:142682543-142682552 chr3:142682745-142682754 chr3:142682543-142682559 chr3:142682548-142682557
42	GTF2F1	chr3:142682640-142683328	H1-hESC	embryonic stem cell:	n/a	n/a
43	GTF3C2	chr3:142682419-142683014	K562	blood:	n/a	n/a
44	HCFC1	chr3:142682566-142682863	K562	blood:	n/a	n/a
45	HDAC2	chr3:142682692-142682927	K562	blood:	n/a	n/a
46	HDAC2	chr3:142682469-142682884	HepG2	liver:	n/a	n/a
47	HEY1	chr3:142682152-142682921	HepG2	liver:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
48	HEY1	chr3:142682310-142682884	K562	blood:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
49	HEY1	chr3:142682297-142682916	HepG2	liver:	n/a	chr3:142682541-142682556 chr3:142682538-142682553 chr3:142682544-142682559
50	HMGN3	chr3:142681685-142683281	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142682378-142682428	AG09319	gingival:	n/a
2	chr3:142682378-142682428	AG09319	gingival:	n/a
3	chr3:142683329-142683379	ProgFib	skin:	n/a
4	chr3:142682682-142682732	SK-N-MC	brain:	n/a
5	chr3:142683329-142683379	BE2_C	brain:	n/a
6	chr3:142682682-142682732	BE2_C	brain:	n/a
7	chr3:142683176-142683226	HCPEpiC	choroid plexus:	n/a
8	chr3:142683329-142683379	AoSMC	blood vessel:	n/a
9	chr3:142683329-142683379	NB4	blood:	n/a
10	chr3:142682652-142682702	NH-A	brain:	n/a
11	chr3:142682288-142682338	IMR90	lung:	fetal
12	chr3:142683329-142683379	HIPEpiC	eye:	n/a
13	chr3:142681595-142681645	HRE	kidney:	n/a
14	chr3:142683329-142683379	AG10803	skin:	n/a
15	chr3:142682288-142682338	PANC-1	pancreas:	n/a
16	chr3:142683069-142683119	HepG2	liver:	n/a
17	chr3:142683069-142683119	AG04450	lung:	fetal
18	chr3:142681704-142681754	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:142682652-142682702	U87	brain:	n/a
20	chr3:142683176-142683226	HNPCEpiC	eye:	n/a
21	chr3:142681996-142682046	GM12892	blood:	n/a
22	chr3:142681704-142681754	RPTEC	kidney:	n/a
23	chr3:142681516-142681566	H1-hESC	embryonic stem cell:	embryo
24	chr3:142681996-142682046	LNCaP	prostate:	n/a
25	chr3:142683176-142683226	PFSK-1	brain:	n/a
26	chr3:142681996-142682046	HIPEpiC	eye:	n/a
27	chr3:142681516-142681566	SKMC	muscle:	n/a
28	chr3:142682682-142682732	GM19239	blood:	n/a
29	chr3:142683176-142683226	Hepatocyte	liver:	n/a
30	chr3:142681595-142681645	HL-60	blood:	n/a
31	chr3:142683329-142683379	HEEpiC	esophagus:	n/a
32	chr3:142681996-142682046	HCPEpiC	choroid plexus:	n/a
33	chr3:142682682-142682732	AG04450	lung:	fetal
34	chr3:142682291-142682341	HL-60	blood:	n/a
35	chr3:142682291-142682341	GM12878	blood:	n/a
36	chr3:142682652-142682702	AoSMC	blood vessel:	n/a
37	chr3:142681996-142682046	PANC-1	pancreas:	n/a
38	chr3:142682652-142682702	NHDF-neo	bronchial:	n/a
39	chr3:142682288-142682338	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:142683329-142683379	BJ	skin:	n/a
41	chr3:142683329-142683379	AG04449	skin:	fetal
42	chr3:142682288-142682338	HIPEpiC	eye:	n/a
43	chr3:142683069-142683119	PFSK-1	brain:	n/a
44	chr3:142681516-142681566	NHBE	bronchial:	n/a
45	chr3:142682378-142682428	ProgFib	skin:	n/a
46	chr3:142683069-142683119	HCT-116	colon:	n/a
47	chr3:142682378-142682428	MCF-7	breast:	n/a
48	chr3:142681516-142681566	HRPEpiC	eye:	n/a
49	chr3:142681996-142682046	HAEpiC	amniotic membrane:	n/a
50	chr3:142682378-142682428	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142296891..142299259-chr3:142680803..142682548,2	K562	blood:
2	chr3:142681877..142683958-chr3:142718843..142721049,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-U2SURP-2	chr3:142683307-142683478	ENSG00000241570.4
2	lnc-U2SURP-2	chr3:142683307-142683478	NONHSAT092507
3	lnc-U2SURP-2	chr3:142682900-142682940	ENSG00000241570.4
4	lnc-U2SURP-2	chr3:142683588-142683652	ENSG00000241570.4
5	lnc-U2SURP-2	chr3:142683090-142683478	NONHSAT092509
6	lnc-U2SURP-2	chr3:142683307-142683745	ENSG00000241570.2
7	lnc-U2SURP-2	chr3:142683588-142683652	ENSG00000241570.4
8	lnc-U2SURP-2	chr3:142683339-142683478	ENSG00000241570.4
9	lnc-U2SURP-2	chr3:142683588-142684787	NONHSAT092509
10	lnc-U2SURP-2	chr3:142683339-142683478	ENSG00000241570.4
11	lnc-U2SURP-2	chr3:142681797-142681936	ENSG00000241570.4
12	lnc-U2SURP-2	chr3:142682900-142682940	ENSG00000241570.2
13	lnc-U2SURP-2	chr3:142683307-142683686	ENSG00000241570.4
14	lnc-U2SURP-2	chr3:142683339-142683478	ENSG00000241570.4
15	lnc-U2SURP-2	chr3:142683339-142683478	ENSG00000241570.4
16	lnc-U2SURP-2	chr3:142683339-142683478	ENSG00000241570.4
17	lnc-U2SURP-2	chr3:142683307-142683478	ENSG00000241570.4
18	lnc-U2SURP-2	chr3:142683588-142684787	NONHSAT092507
19	lnc-U2SURP-2	chr3:142681796-142681936	ENSG00000241570.4
20	lnc-U2SURP-2	chr3:142683307-142683478	ENSG00000241570.4
21	lnc-U2SURP-2	chr3:142683002-142683172	ENSG00000241570.2
22	lnc-U2SURP-2	chr3:142683307-142683478	ENSG00000241570.2
23	lnc-U2SURP-2	chr3:142682972-142683172	ENSG00000241570.4
24	lnc-U2SURP-2	chr3:142683588-142683654	ENSG00000241570.4
25	lnc-U2SURP-2	chr3:142682910-142682940	NONHSAT092507

Variant related genes	Relation type
PAQR9	TF binding region
ENSG00000241570	TF binding region
U2SURP	TF binding region
PAQR9	CpG island
ENSG00000241570	CpG island
U2SURP	CpG island
ENSG00000268129	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000175054	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201886875	chr3:142681540-142681541	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs577574240	chr3:142681560-142681561	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs78494654	chr3:142681642-142681643	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs368379683	chr3:142681657-142681658	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs373238629	chr3:142681696-142681697	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77782102	chr3:142681697-142681698	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376511161	chr3:142681704-142681705	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs148279229	chr3:142681720-142681721	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs542854262	chr3:142681729-142681730	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372655889	chr3:142681733-142681734	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs377714272	chr3:142681734-142681735	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141231780	chr3:142681786-142681787	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs9844480	chr3:142681813-142681814	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139167806	chr3:142681821-142681822	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs200424033	chr3:142681822-142681823	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs144039037	chr3:142681828-142681829	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs546700847	chr3:142681842-142681843	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs368382625	chr3:142681843-142681844	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs145977421	chr3:142681867-142681868	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs139804077	chr3:142681921-142681922	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs370837233	chr3:142681924-142681925	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs374554667	chr3:142681957-142681958	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs551367858	chr3:142681978-142681979	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs143182867	chr3:142681990-142681991	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs560163441	chr3:142681999-142682000	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs111707203	chr3:142682008-142682009	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs373875132	chr3:142682034-142682035	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs200332240	chr3:142682047-142682048	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs200696132	chr3:142682065-142682066	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs115958571	chr3:142682073-142682074	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs192874057	chr3:142682097-142682098	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs564554259	chr3:142682105-142682106	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs111684660	chr3:142682182-142682183	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs28654778	chr3:142682187-142682188	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs553120251	chr3:142682194-142682195	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs577537962	chr3:142682298-142682299	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs140851741	chr3:142682388-142682389	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs183011498	chr3:142682405-142682406	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs575938587	chr3:142682407-142682408	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs542915589	chr3:142682439-142682440	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs561104344	chr3:142682457-142682458	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs573115032	chr3:142682493-142682494	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs540299962	chr3:142682495-142682496	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs376133259	chr3:142682532-142682533	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs112366470	chr3:142682609-142682610	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs565403217	chr3:142682610-142682611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs532390241	chr3:142682617-142682618	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs550995632	chr3:142682625-142682626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs79784172	chr3:142682640-142682641	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs530779981	chr3:142682646-142682647	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142676200-142681600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142679400-142682000	Flanking Active TSS	Liver	Liver
3	chr3:142679800-142681800	Weak transcription	K562	blood
4	chr3:142680600-142682000	Flanking Active TSS	HepG2	liver
5	chr3:142681000-142681600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr3:142681000-142682000	ZNF genes & repeats	Pancreas	Pancrea
7	chr3:142681000-142683600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:142681200-142681600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:142681200-142682000	Flanking Active TSS	Right Ventricle	heart
10	chr3:142681200-142682200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:142681400-142681600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr3:142681400-142681600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:142681400-142681600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:142681400-142681600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:142681400-142681600	Enhancers	Gastric	stomach
16	chr3:142681400-142681600	Active TSS	A549	lung
17	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:142681400-142681800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:142681400-142681800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:142681400-142681800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
22	chr3:142681400-142681800	Genic enhancers	Right Atrium	heart
23	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:142681400-142682000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr3:142681400-142682000	Bivalent Enhancer	Spleen	Spleen
28	chr3:142681400-142682200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:142681400-142683600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:142681400-142683600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:142681400-142683600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr3:142681600-142681800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr3:142681600-142681800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:142681600-142681800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr3:142681600-142681800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
38	chr3:142681600-142681800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:142681600-142681800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr3:142681600-142681800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:142681600-142681800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:142681600-142681800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:142681600-142681800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr3:142681600-142681800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:142681600-142681800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr3:142681600-142682000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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