Variant report

Variant	esv3452194
Chromosome Location	chr3:52832512-52836010
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	chr3:52833269-52833345	HepG2	liver:	n/a	n/a
2	CHD2	chr3:52833121-52833267	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr3:52833175-52833341	Medullo	brain:	n/a	chr3:52833256-52833274
4	CTCF	chr3:52832882-52833040	GM19240	blood:	n/a	n/a
5	CTCF	chr3:52833900-52834050	K562	blood:	n/a	n/a
6	CTCF	chr3:52833240-52833390	HMEC	breast:	n/a	chr3:52833256-52833274
7	CTCF	chr3:52833162-52833394	MCF-7	breast:	n/a	chr3:52833256-52833274
8	CTCF	chr3:52833200-52833350	AG04449	skin:	n/a	chr3:52833256-52833274
9	CTCF	chr3:52833160-52833310	GM12870	blood:	n/a	chr3:52833256-52833274
10	CTCF	chr3:52833220-52833370	Caco-2	colon:	n/a	chr3:52833256-52833274
11	CTCF	chr3:52833180-52833330	HAc	cerebellar:	n/a	chr3:52833256-52833274
12	CTCF	chr3:52833500-52833650	HEK293	kidney:	n/a	n/a
13	CTCF	chr3:52833139-52833423	GM12878	blood:	n/a	chr3:52833256-52833274
14	CTCF	chr3:52833200-52833350	HFF-Myc	foreskin:	n/a	chr3:52833256-52833274
15	CTCF	chr3:52833185-52833349	Kidney_OC	kidney:	n/a	chr3:52833256-52833274
16	CTCF	chr3:52833164-52833324	LNCaP	prostate:	n/a	chr3:52833256-52833274
17	CTCF	chr3:52833180-52833330	GM12875	blood:	n/a	chr3:52833256-52833274
18	CTCF	chr3:52833180-52833330	HMF	breast:	n/a	chr3:52833256-52833274
19	CTCF	chr3:52833160-52833310	K562	blood:	n/a	chr3:52833256-52833274
20	CTCF	chr3:52833260-52833410	NHLF	lung:	n/a	n/a
21	CTCF	chr3:52833151-52833345	Fibrobl	skin:	n/a	chr3:52833256-52833274
22	CTCF	chr3:52833220-52833370	SK-N-SH_RA	brain:	n/a	chr3:52833256-52833274
23	CTCF	chr3:52833180-52833330	GM12864	blood:	n/a	chr3:52833256-52833274
24	CTCF	chr3:52833200-52833350	GM12870	blood:	n/a	chr3:52833256-52833274
25	CTCF	chr3:52832927-52833041	GM12892	blood:	n/a	n/a
26	CTCF	chr3:52832780-52832930	K562	blood:	n/a	chr3:52832816-52832829
27	CTCF	chr3:52833220-52833370	HPF	lung:	n/a	chr3:52833256-52833274
28	CTCF	chr3:52833180-52833330	RPTEC	kidney:	n/a	chr3:52833256-52833274
29	CTCF	chr3:52833104-52833427	NHEK	skin:	n/a	chr3:52833256-52833274
30	CTCF	chr3:52833940-52833965	GM12892	blood:	n/a	n/a
31	CTCF	chr3:52833120-52833270	AG09309	skin:	n/a	n/a
32	CTCF	chr3:52832940-52833090	AG09309	skin:	n/a	n/a
33	CTCF	chr3:52833200-52833350	AG09319	gingival:	n/a	chr3:52833256-52833274
34	CTCF	chr3:52833240-52833390	NHDF-neo	bronchial:	n/a	chr3:52833256-52833274
35	CTCF	chr3:52833200-52833350	NB4	blood:	n/a	chr3:52833256-52833274
36	CTCF	chr3:52833200-52833350	GM12873	blood:	n/a	chr3:52833256-52833274
37	CTCF	chr3:52833177-52833342	GM20000	blood:	n/a	chr3:52833256-52833274
38	CTCF	chr3:52833180-52833330	HRPEpiC	eye:	n/a	chr3:52833256-52833274
39	CTCF	chr3:52833180-52833330	GM12865	blood:	n/a	chr3:52833256-52833274
40	CTCF	chr3:52833185-52833374	GM13976	blood:	n/a	chr3:52833256-52833274
41	CTCF	chr3:52833200-52833350	GM12865	blood:	n/a	chr3:52833256-52833274
42	CTCF	chr3:52833200-52833350	HCM	heart:	n/a	chr3:52833256-52833274
43	CTCF	chr3:52833829-52834068	K562	blood:	n/a	n/a
44	CTCF	chr3:52833200-52833350	RPTEC	kidney:	n/a	chr3:52833256-52833274
45	CTCF	chr3:52833200-52833350	A549	lung:	n/a	chr3:52833256-52833274
46	CTCF	chr3:52832936-52832993	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:52833133-52833362	MCF-7	breast:	n/a	chr3:52833256-52833274
48	CTCF	chr3:52833145-52833378	GM13977	blood:	n/a	chr3:52833256-52833274
49	CTCF	chr3:52833931-52833999	K562	blood:	n/a	n/a
50	CTCF	chr3:52833200-52833350	GM12866	blood:	n/a	chr3:52833256-52833274

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52832769-52832819	IMR90	lung:	fetal
2	chr3:52835147-52835197	ovcar-3	ovarian:	n/a
3	chr3:52835147-52835197	RPTEC	kidney:	n/a
4	chr3:52835147-52835197	HMEC	breast:	n/a
5	chr3:52835147-52835197	IMR90	lung:	fetal
6	chr3:52835147-52835197	HCM	heart:	n/a
7	chr3:52832769-52832819	ECC-1	luminal epithelium:	n/a
8	chr3:52835147-52835197	GM12891	blood:	n/a
9	chr3:52832769-52832819	HAEpiC	amniotic membrane:	n/a
10	chr3:52835147-52835197	Hepatocyte	liver:	n/a
11	chr3:52835147-52835197	HIPEpiC	eye:	n/a
12	chr3:52832769-52832819	GM12891	blood:	n/a
13	chr3:52835147-52835197	PrEC	prostate:	n/a
14	chr3:52832769-52832819	NHBE	bronchial:	n/a
15	chr3:52835147-52835197	NHDF-neo	bronchial:	n/a
16	chr3:52832769-52832819	SK-N-SH_RA	brain:	n/a
17	chr3:52832769-52832819	BJ	skin:	n/a
18	chr3:52832769-52832819	HMEC	breast:	n/a
19	chr3:52835147-52835197	AG04449	skin:	fetal
20	chr3:52835147-52835197	A549	lung:	n/a
21	chr3:52832769-52832819	BE2_C	brain:	n/a
22	chr3:52835147-52835197	SKMC	muscle:	n/a
23	chr3:52832769-52832819	Jurkat	blood:	n/a
24	chr3:52835147-52835197	HRCEpiC	kidney:	n/a
25	chr3:52832769-52832819	AG04450	lung:	fetal
26	chr3:52835147-52835197	MCF-7	breast:	n/a
27	chr3:52835147-52835197	AoSMC	blood vessel:	n/a
28	chr3:52832769-52832819	CMK	blood:	n/a
29	chr3:52835147-52835197	AG10803	skin:	n/a
30	chr3:52835147-52835197	K562	blood:	n/a
31	chr3:52832769-52832819	Caco-2	colon:	n/a
32	chr3:52835147-52835197	NH-A	brain:	n/a
33	chr3:52832769-52832819	PANC-1	pancreas:	n/a
34	chr3:52832769-52832819	GM12892	blood:	n/a
35	chr3:52832769-52832819	HEK293	kidney:	embryo
36	chr3:52832769-52832819	U87	brain:	n/a
37	chr3:52835147-52835197	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:52835147-52835197	Jurkat	blood:	n/a
39	chr3:52835147-52835197	AG09319	gingival:	n/a
40	chr3:52832769-52832819	AG10803	skin:	n/a
41	chr3:52832769-52832819	HL-60	blood:	n/a
42	chr3:52835147-52835197	ECC-1	luminal epithelium:	n/a
43	chr3:52832769-52832819	RPTEC	kidney:	n/a
44	chr3:52832769-52832819	A549	lung:	n/a
45	chr3:52832769-52832819	HCPEpiC	choroid plexus:	n/a
46	chr3:52835147-52835197	PFSK-1	brain:	n/a
47	chr3:52835147-52835197	T-47D	breast:	n/a
48	chr3:52835147-52835197	ProgFib	skin:	n/a
49	chr3:52835147-52835197	HNPCEpiC	eye:	n/a
50	chr3:52835147-52835197	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52817973..52820437-chr3:52833631..52835650,3	K562	blood:
2	chr3:52803280..52805303-chr3:52832255..52833885,2	MCF-7	breast:
3	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
4	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
5	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
6	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:
7	chr3:52827101..52830669-chr3:52833208..52834941,3	K562	blood:
8	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:
9	chr3:52819022..52821940-chr3:52830532..52832899,2	K562	blood:
10	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
11	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:
12	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:

Variant related genes	Relation type
ITIH3	TF binding region
ITIH3	CpG island
ENSG00000163939	chromatin interactions
ENSG00000163938	chromatin interactions
ENSG00000055957	chromatin interactions
ENSG00000055955	chromatin interactions
ENSG00000162267	chromatin interactions
ENSG00000114904	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72954375	chr3:52832539-52832540	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs553335085	chr3:52832547-52832548	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs573126631	chr3:52832570-52832571	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs542322943	chr3:52832580-52832581	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs78539450	chr3:52832584-52832585	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs71299619	chr3:52832610-52832611	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148517715	chr3:52832623-52832624	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs35509926	chr3:52832643-52832644	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs74821929	chr3:52832662-52832663	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs78467442	chr3:52832663-52832664	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs9831399	chr3:52832764-52832765	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533457588	chr3:52832769-52832770	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs181821551	chr3:52832770-52832771	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs559323307	chr3:52832779-52832780	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs542171047	chr3:52832815-52832816	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs375287770	chr3:52832821-52832822	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs548145859	chr3:52832823-52832824	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs568205084	chr3:52832831-52832832	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs9831540	chr3:52832870-52832871	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550805099	chr3:52832913-52832914	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs570613625	chr3:52832917-52832918	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs539764358	chr3:52832918-52832919	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs370868108	chr3:52832939-52832940	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs117689634	chr3:52832940-52832941	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs201504375	chr3:52832947-52832948	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs368876128	chr3:52832948-52832949	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs187217841	chr3:52832960-52832961	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs367850377	chr3:52832967-52832968	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs375388044	chr3:52832987-52832988	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs369673357	chr3:52833015-52833016	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs373638980	chr3:52833019-52833020	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs199503739	chr3:52833032-52833033	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs370787925	chr3:52833035-52833036	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs201518855	chr3:52833053-52833054	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs199634029	chr3:52833078-52833079	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs377455879	chr3:52833113-52833114	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs370275643	chr3:52833122-52833123	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs532544928	chr3:52833143-52833144	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs577790534	chr3:52833155-52833156	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs115574139	chr3:52833156-52833157	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs2535629	chr3:52833219-52833220	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
42	rs530567292	chr3:52833274-52833275	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs547914748	chr3:52833285-52833286	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs561624249	chr3:52833301-52833302	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs530624548	chr3:52833307-52833308	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs550666916	chr3:52833318-52833319	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs377731401	chr3:52833365-52833366	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs370980347	chr3:52833421-52833422	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs570674211	chr3:52833443-52833444	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs539289176	chr3:52833451-52833452	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
4	chr3:52828600-52832600	Weak transcription	Stomach Mucosa	stomach
5	chr3:52829000-52834200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:52830200-52833200	Weak transcription	Fetal Thymus	thymus
7	chr3:52830400-52832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52830400-52834000	Genic enhancers	HepG2	liver
9	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
10	chr3:52830800-52835000	Genic enhancers	Liver	Liver
11	chr3:52832000-52833000	Enhancers	Spleen	Spleen
12	chr3:52832000-52833000	Enhancers	HSMM	muscle
13	chr3:52832000-52833600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52832200-52832800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:52832200-52832800	Enhancers	Fetal Stomach	stomach
16	chr3:52832200-52833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:52832400-52832600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:52832400-52832600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:52832400-52833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:52832400-52833000	Enhancers	Placenta	Placenta
21	chr3:52832400-52833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:52832600-52832800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:52832600-52832800	Enhancers	NHEK	skin
24	chr3:52832600-52833000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:52832600-52833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:52832600-52833200	Enhancers	Stomach Mucosa	stomach
27	chr3:52832600-52833200	Enhancers	HMEC	breast
28	chr3:52832800-52833000	Flanking Active TSS	NHEK	skin
29	chr3:52832800-52833600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:52833000-52833200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:52833000-52833800	Weak transcription	Right Ventricle	heart
32	chr3:52833000-52833800	Weak transcription	Spleen	Spleen
33	chr3:52833000-52836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:52833000-52836400	Weak transcription	HSMM	muscle
35	chr3:52833200-52834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:52833200-52834000	Enhancers	Fetal Thymus	thymus
37	chr3:52833200-52835600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:52833600-52834800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:52833600-52835800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:52833800-52834400	Enhancers	Right Ventricle	heart
41	chr3:52833800-52834600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:52833800-52834600	Enhancers	Spleen	Spleen
43	chr3:52834000-52834200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr3:52834000-52834800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:52834000-52838000	Weak transcription	Fetal Thymus	thymus
46	chr3:52834000-52841600	Strong transcription	HepG2	liver
47	chr3:52834200-52834400	Enhancers	Brain Substantia Nigra	brain
48	chr3:52834200-52834600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:52834200-52839800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:52834600-52836400	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links