Variant report

Variant	nsv834517
Chromosome Location	chr2:209006797-209170269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3389)
CpG islands
(count:3302)
Chromatin interactive
region (count:120)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:3389 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:209087199-209087560	K562	blood:	n/a	n/a
2	ARID3A	chr2:209040108-209040387	K562	blood:	n/a	n/a
3	ARID3A	chr2:209147896-209147922	K562	blood:	n/a	n/a
4	ARID3A	chr2:209131347-209131467	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:209111812-209112156	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:209040041-209040430	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:209117654-209117925	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:209007979-209008346	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:209130423-209131132	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:209117545-209119307	K562	blood:	n/a	n/a
11	ARID3A	chr2:209130367-209131039	K562	blood:	n/a	n/a
12	ARID3A	chr2:209118343-209119489	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:209119748-209120369	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:209120006-209120432	K562	blood:	n/a	n/a
15	ATF1	chr2:209087055-209087498	K562	blood:	n/a	n/a
16	ATF1	chr2:209130194-209131031	K562	blood:	n/a	n/a
17	ATF1	chr2:209036916-209037257	K562	blood:	n/a	n/a
18	ATF1	chr2:209017982-209018379	K562	blood:	n/a	n/a
19	ATF1	chr2:209117612-209117989	K562	blood:	n/a	n/a
20	ATF2	chr2:209119815-209120262	GM12878	blood:	n/a	n/a
21	ATF2	chr2:209130146-209131137	GM12878	blood:	n/a	n/a
22	ATF2	chr2:209130444-209130998	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr2:209159127-209159603	GM12878	blood:	n/a	n/a
24	ATF2	chr2:209158903-209159829	GM12878	blood:	n/a	n/a
25	ATF2	chr2:209118949-209119499	GM12878	blood:	n/a	n/a
26	ATF2	chr2:209119912-209120320	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr2:209130018-209131237	GM12878	blood:	n/a	n/a
28	ATF3	chr2:209087130-209087430	K562	blood:	n/a	n/a
29	ATF3	chr2:209130496-209131098	A549	lung:	n/a	n/a
30	ATF3	chr2:209075877-209076034	K562	blood:	n/a	n/a
31	ATF3	chr2:209117589-209117994	K562	blood:	n/a	n/a
32	ATF3	chr2:209130292-209131029	A549	lung:	n/a	n/a
33	BACH1	chr2:209169461-209169661	K562	blood:	n/a	n/a
34	BACH1	chr2:209115059-209115138	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:209119938-209120144	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:209119008-209119330	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr2:209117730-209118003	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr2:209130390-209130838	K562	blood:	n/a	n/a
39	BACH1	chr2:209130552-209130932	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr2:209036897-209037049	K562	blood:	n/a	n/a
41	BCL3	chr2:209129993-209131219	A549	lung:	n/a	n/a
42	BCL3	chr2:209099914-209100373	A549	lung:	n/a	n/a
43	BCL3	chr2:209118792-209119553	A549	lung:	n/a	chr2:209119161-209119170
44	BCL3	chr2:209119719-209120265	A549	lung:	n/a	n/a
45	BCL3	chr2:209130530-209131134	GM12878	blood:	n/a	n/a
46	BCLAF1	chr2:209159335-209159784	GM12878	blood:	n/a	n/a
47	BCLAF1	chr2:209040059-209040456	GM12878	blood:	n/a	n/a
48	BCLAF1	chr2:209040035-209040305	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:209159012-209159716	GM12878	blood:	n/a	n/a
50	BCLAF1	chr2:209119068-209119679	GM12878	blood:	n/a	chr2:209119161-209119170

(count:3302 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209011053-209011103	GM12891	blood:	n/a
2	chr2:209054740-209054790	HUVEC	blood vessel:	n/a
3	chr2:209010996-209011046	HAEpiC	amniotic membrane:	n/a
4	chr2:209120094-209120144	HAEpiC	amniotic membrane:	n/a
5	chr2:209124244-209124294	GM12878	blood:	n/a
6	chr2:209054670-209054720	HCPEpiC	choroid plexus:	n/a
7	chr2:209116254-209116304	CMK	blood:	n/a
8	chr2:209010629-209010679	HCM	heart:	n/a
9	chr2:209011053-209011103	GM12891	blood:	n/a
10	chr2:209054740-209054790	HUVEC	blood vessel:	n/a
11	chr2:209010996-209011046	HAEpiC	amniotic membrane:	n/a
12	chr2:209120094-209120144	HAEpiC	amniotic membrane:	n/a
13	chr2:209124244-209124294	GM12878	blood:	n/a
14	chr2:209054670-209054720	HCPEpiC	choroid plexus:	n/a
15	chr2:209116254-209116304	CMK	blood:	n/a
16	chr2:209010629-209010679	HCM	heart:	n/a
17	chr2:209130814-209130864	AoSMC	blood vessel:	n/a
18	chr2:209133632-209133682	GM12878	blood:	n/a
19	chr2:209131274-209131324	SK-N-SH_RA	brain:	n/a
20	chr2:209130889-209130939	AoSMC	blood vessel:	n/a
21	chr2:209119814-209119864	MCF10A-Er-Src	breast:	n/a
22	chr2:209010095-209010145	GM12891	blood:	n/a
23	chr2:209119030-209119080	GM12891	blood:	n/a
24	chr2:209120195-209120245	HUVEC	blood vessel:	n/a
25	chr2:209120094-209120144	ProgFib	skin:	n/a
26	chr2:209028059-209028109	AG09309	skin:	n/a
27	chr2:209028478-209028528	CMK	blood:	n/a
28	chr2:209131103-209131153	LNCaP	prostate:	n/a
29	chr2:209012188-209012238	A549	lung:	n/a
30	chr2:209133632-209133682	K562	blood:	n/a
31	chr2:209128590-209128640	AG09309	skin:	n/a
32	chr2:209119992-209120042	HMEC	breast:	n/a
33	chr2:209130978-209131028	Hepatocyte	liver:	n/a
34	chr2:209092738-209092788	NHBE	bronchial:	n/a
35	chr2:209130885-209130935	ProgFib	skin:	n/a
36	chr2:209124244-209124294	LNCaP	prostate:	n/a
37	chr2:209119189-209119239	PANC-1	pancreas:	n/a
38	chr2:209029690-209029740	HEK293	kidney:	embryo
39	chr2:209119992-209120042	NHBE	bronchial:	n/a
40	chr2:209028399-209028449	AG10803	skin:	n/a
41	chr2:209028478-209028528	HCT-116	colon:	n/a
42	chr2:209028399-209028449	Jurkat	blood:	n/a
43	chr2:209119949-209119999	SK-N-MC	brain:	n/a
44	chr2:209130700-209130750	Jurkat	blood:	n/a
45	chr2:209028399-209028449	NHDF-neo	bronchial:	n/a
46	chr2:209011053-209011103	NT2-D1	testis:	n/a
47	chr2:209025539-209025589	SKMC	muscle:	n/a
48	chr2:209131103-209131153	PFSK-1	brain:	n/a
49	chr2:209025539-209025589	ovcar-3	ovarian:	n/a
50	chr2:209116254-209116304	RPTEC	kidney:	n/a

(count:120 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:209135233..209137372-chr2:209148836..209151821,2	K562	blood:
2	chr2:209133926..209135524-chr2:209139403..209141447,2	MCF-7	breast:
3	chr2:209106594..209109969-chr2:209113559..209115828,3	K562	blood:
4	chr2:209135135..209138547-chr2:209139841..209142667,3	MCF-7	breast:
5	chr2:209123964..209126958-chr2:209128019..209130689,2	K562	blood:
6	chr2:209128359..209130743-chr2:209169171..209171063,2	K562	blood:
7	chr2:209135135..209138547-chr2:209139841..209142667,3	MCF-7	breast:
8	chr2:209058318..209061036-chr2:209107934..209110316,2	MCF-7	breast:
9	chr2:209095167..209097788-chr2:209102081..209104092,2	K562	blood:
10	chr2:209059939..209061469-chr2:209069888..209071988,2	K562	blood:
11	chr2:209009911..209012697-chr2:209012960..209014950,2	K562	blood:
12	chr2:209165926..209168166-chr2:209169181..209171206,2	K562	blood:
13	chr2:209041162..209042836-chr2:209051785..209054428,2	K562	blood:
14	chr2:209115314..209118296-chr2:209118564..209121392,2	MCF-7	breast:
15	chr17:19991747..19994521-chr2:209032147..209035018,4	K562	blood:
16	chr2:209107973..209109717-chr2:209111459..209113433,2	K562	blood:
17	chr2:209131018..209132806-chr2:209148294..209150467,2	K562	blood:
18	chr2:209040088..209040688-chr2:209118748..209120316,4	K562	blood:
19	chr2:209039776..209040279-chr2:209119196..209119817,2	MCF-7	breast:
20	chr2:209143792..209146656-chr2:209148818..209151029,2	K562	blood:
21	chr2:209166666..209169529-chr2:209169706..209171903,2	K562	blood:
22	chr2:209133841..209135809-chr2:209138759..209141386,3	K562	blood:
23	chr2:209133235..209135451-chr2:209137716..209139373,2	MCF-7	breast:
24	chr2:209041162..209042836-chr2:209051785..209054428,2	K562	blood:
25	chr2:209043347..209044006-chr2:209118780..209119320,2	MCF-7	breast:
26	chr1:87793559..87794463-chr2:209130596..209131219,2	NB4	blood:
27	chr2:209107973..209109717-chr2:209111459..209113433,2	K562	blood:
28	chr2:209039733..209040833-chr2:209118699..209120498,12	MCF-7	breast:
29	chr2:209028147..209030842-chr2:209033531..209035644,2	MCF-7	breast:
30	chr2:209105823..209107971-chr2:209113114..209114666,2	MCF-7	breast:
31	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
32	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
33	chr2:209027080..209028800-chr2:209034737..209037524,2	K562	blood:
34	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
35	chr2:209058318..209061036-chr2:209107934..209110316,2	MCF-7	breast:
36	chr2:209104332..209106656-chr2:209130862..209133286,2	MCF-7	breast:
37	chr1:28832504..28833487-chr2:209130651..209131371,2	Hela-S3	cervix:
38	chr2:209033532..209035428-chr2:209036949..209038570,2	MCF-7	breast:
39	chr2:209165926..209168166-chr2:209169181..209171206,2	K562	blood:
40	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
41	chr2:209113508..209115266-chr2:209130064..209132288,2	MCF-7	breast:
42	chr2:209033532..209035428-chr2:209036949..209038570,2	MCF-7	breast:
43	chr2:209111236..209113082-chr2:209117522..209119533,2	MCF-7	breast:
44	chr2:209119923..209123053-chr2:209129009..209130826,3	MCF-7	breast:
45	chr2:209111341..209112901-chr2:209132498..209134029,2	K562	blood:
46	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
47	chr2:209130991..209132638-chr2:209137435..209139595,2	MCF-7	breast:
48	chr2:208488594..208490562-chr2:209093498..209095135,2	MCF-7	breast:
49	chr2:209095163..209099233-chr2:209117961..209120869,4	K562	blood:
50	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-4	chr2:209048753-209048776	NONHSAT076630
2	lnc-PIKFYVE-1	chr2:209120627-209120905	ENSG00000231908.1
3	lnc-PIKFYVE-4	chr2:209021271-209021486	NONHSAT076632
4	lnc-IDH1-1	chr2:209086886-209087349	NONHSAT076633
5	lnc-PIKFYVE-1	chr2:209119971-209120155	ENSG00000231908.1
6	lnc-PIKFYVE-1	chr2:209119957-209120155	NONHSAT076636
7	lnc-PIKFYVE-1	chr2:209120627-209120918	NONHSAT076636
8	lnc-PIKFYVE-1	chr2:209120124-209120346	ENSG00000231908.1
9	lnc-PIKFYVE-1	chr2:209120627-209120892	ENSG00000231908.1
10	lnc-IDH1-1	chr2:209079448-209079486	NONHSAT076633

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	IDH1	hsa-miR-30a-5p	chr2:209101744-209101765
2	IDH1	hsa-miR-30a-5p	chr2:209101749-209101743
3	IDH1	hsa-miR-30a-5p	chr2:209101662-209101656
4	IDH1	hsa-miR-30a-5p	chr2:209101688-209101709
5	IDH1	hsa-miR-30a-5p	chr2:209101657-209101678

Variant related genes	Relation type
CRYGA	TF binding region
ENSG00000233869	TF binding region
ENSG00000224529	TF binding region
PIKFYVE	TF binding region
CRYGB	TF binding region
IDH1	TF binding region
ENSG00000228380	TF binding region
C2orf80	TF binding region
ENSG00000263524	TF binding region
IDH1-AS1	TF binding region
TPT1P2	TF binding region
CRYGA	CpG island
ENSG00000233869	CpG island
ENSG00000224529	CpG island
PIKFYVE	CpG island
CRYGB	CpG island
IDH1	CpG island
ENSG00000228380	CpG island
C2orf80	CpG island
ENSG00000263524	CpG island
IDH1-AS1	CpG island
TPT1P2	CpG island
ENSG00000228380	chromatin interactions
ENSG00000118260	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000144401	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000182187	chromatin interactions
ENSG00000263524	chromatin interactions
ENSG00000223725	chromatin interactions
ENSG00000138413	chromatin interactions
ENSG00000228111	chromatin interactions
ENSG00000231908	chromatin interactions
ENSG00000188674	chromatin interactions
ENSG00000197217	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000168582	chromatin interactions
ENSG00000115020	chromatin interactions
ENSG00000143013	chromatin interactions
DIAPH1	miRNA target sites
PAPOLA	miRNA target sites

Extended variants
information (count: 6599 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6599 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199936977	chr2:209006840-209006841	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574198970	chr2:209006846-209006847	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539938263	chr2:209006847-209006848	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143639145	chr2:209006849-209006850	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116379458	chr2:209006850-209006851	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs546508072	chr2:209006898-209006899	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556636530	chr2:209006915-209006916	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147696441	chr2:209006918-209006919	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187827538	chr2:209006926-209006927	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562058999	chr2:209006933-209006934	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191454652	chr2:209007007-209007008	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200572962	chr2:209007027-209007028	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566684135	chr2:209007043-209007044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532228469	chr2:209007048-209007049	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183066216	chr2:209007059-209007060	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531837955	chr2:209007092-209007093	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537699596	chr2:209007095-209007096	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376603760	chr2:209007100-209007101	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs187783583	chr2:209007110-209007111	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533921616	chr2:209007116-209007117	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553567742	chr2:209007117-209007118	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs576845968	chr2:209007162-209007163	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191951298	chr2:209007165-209007166	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142385786	chr2:209007192-209007193	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146861676	chr2:209007220-209007221	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550379325	chr2:209007221-209007222	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542530066	chr2:209007222-209007223	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184417889	chr2:209007262-209007263	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560044162	chr2:209007265-209007266	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369838993	chr2:209007284-209007285	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368780683	chr2:209007321-209007322	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541388467	chr2:209007377-209007378	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144763667	chr2:209007384-209007385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs142007191	chr2:209007416-209007417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200378287	chr2:209007418-209007419	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371337231	chr2:209007419-209007420	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376812581	chr2:209007443-209007444	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs150520359	chr2:209007460-209007461	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144172331	chr2:209007462-209007463	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs368634545	chr2:209007468-209007469	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs377230321	chr2:209007474-209007475	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs199798602	chr2:209007517-209007518	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs61745346	chr2:209007531-209007532	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548066116	chr2:209007543-209007544	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs190110781	chr2:209007544-209007545	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs796287	chr2:209007559-209007560	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs373684892	chr2:209007566-209007567	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs200750137	chr2:209007578-209007579	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs143178911	chr2:209007613-209007614	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs375178597	chr2:209007620-209007621	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3970 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209001800-209006800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:209004400-209006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:209004400-209012800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:209006600-209007800	Enhancers	HMEC	breast
5	chr2:209006600-209008200	Enhancers	Brain Germinal Matrix	brain
6	chr2:209006800-209007000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:209006800-209007600	Enhancers	Fetal Intestine Small	intestine
8	chr2:209006800-209007600	Bivalent Enhancer	HepG2	liver
9	chr2:209006800-209007800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:209006800-209007800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:209006800-209007800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:209006800-209008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:209006800-209008000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:209006800-209008200	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:209006800-209008200	Enhancers	Fetal Stomach	stomach
16	chr2:209007000-209007600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:209007000-209007800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:209007000-209007800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:209007000-209007800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:209007000-209008200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:209007200-209008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:209007200-209008600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:209007400-209007800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:209007400-209007800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:209007400-209007800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:209007400-209007800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:209007400-209008000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:209007400-209008000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:209007600-209007800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr2:209007600-209008000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:209007600-209008200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:209007600-209008400	Enhancers	Stomach Mucosa	stomach
33	chr2:209007600-209008600	Enhancers	HepG2	liver
34	chr2:209007800-209008200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:209008000-209008600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:209008000-209010800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:209008000-209010800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:209008200-209008600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:209008200-209008800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:209008200-209012600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:209008600-209012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:209010200-209010600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:209010600-209011000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:209010800-209011200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:209010800-209011200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:209011000-209012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:209011200-209012400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:209012000-209012600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:209012000-209012600	Enhancers	Right Atrium	heart
50	chr2:209012200-209012800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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