Variant report

Variant	rs2237617
Chromosome Location	chr7:104878706-104878707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104877972..104880415-chr7:104883761..104886456,5	K562	blood:
2	chr7:104860454..104863206-chr7:104876293..104878733,2	K562	blood:
3	chr7:104801800..104804505-chr7:104876427..104879424,2	K562	blood:
4	chr7:104870200..104871932-chr7:104876132..104878987,2	K562	blood:
5	chr7:104867894..104871932-chr7:104875141..104878987,5	K562	blood:

Variant related genes	Relation type
ENSG00000213361	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1013016	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs1019040	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10228503	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10238507	0.87[JPT][hapmap]
rs10240574	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10241374	0.87[CHB][hapmap]
rs10241415	0.87[JPT][hapmap]
rs10242713	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10245589	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10248422	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs10248954	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs10252295	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs10253962	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10259721	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10261613	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10261782	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10266871	0.87[JPT][hapmap]
rs10277120	0.87[JPT][hapmap]
rs10279486	0.82[CHB][hapmap]
rs10280752	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10281422	0.81[JPT][hapmap]
rs10487150	0.87[JPT][hapmap]
rs10808139	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10953464	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs10953468	0.81[JPT][hapmap]
rs10953473	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs1142	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1143	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs1144	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11973516	0.81[CHB][hapmap]
rs11981399	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs1204056	0.87[JPT][hapmap]
rs1204058	0.87[JPT][hapmap]
rs1204066	0.85[JPT][hapmap]
rs1204077	0.87[JPT][hapmap]
rs12334245	0.87[JPT][hapmap]
rs12531424	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12540007	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12668040	0.80[JPT][hapmap]
rs12671368	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12705305	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs13223001	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs13235033	0.93[JPT][hapmap]
rs13237370	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs13238191	0.87[JPT][hapmap]
rs1859786	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs1917047	0.88[CHB][hapmap]
rs1978201	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2030776	0.87[JPT][hapmap]
rs2040914	0.87[JPT][hapmap]
rs2057883	0.81[JPT][hapmap]
rs2057884	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2214928	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237602	0.93[CHB][hapmap];0.80[JPT][hapmap]
rs2237606	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237610	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237613	0.81[JPT][hapmap]
rs2237615	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237616	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2237618	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs2237619	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs2237620	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2240453	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2240454	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2240457	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2240463	0.87[JPT][hapmap]
rs2240465	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2299299	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2299304	0.87[JPT][hapmap]
rs2299308	0.87[JPT][hapmap]
rs2299313	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2299319	0.87[JPT][hapmap]
rs2299320	0.83[CHB][hapmap]
rs2299326	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2385542	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs3213676	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3779208	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs3779210	0.87[JPT][hapmap]
rs3801278	0.87[JPT][hapmap]
rs3801281	0.81[JPT][hapmap]
rs3801282	0.87[JPT][hapmap]
rs3801283	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs3801285	0.87[JPT][hapmap]
rs3801999	0.87[JPT][hapmap]
rs3815256	0.94[CHB][hapmap]
rs41562	0.87[JPT][hapmap]
rs41563	0.87[JPT][hapmap]
rs4727622	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs4730072	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4730073	0.87[JPT][hapmap]
rs4730078	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs4730080	0.81[JPT][hapmap]
rs4730082	0.87[JPT][hapmap]
rs6466045	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs6466053	0.87[JPT][hapmap]
rs6466056	0.87[JPT][hapmap]
rs6466057	0.87[JPT][hapmap]
rs6466064	0.87[JPT][hapmap]
rs6943183	0.87[JPT][hapmap]
rs6950620	0.87[JPT][hapmap]
rs6952534	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs6962856	0.87[JPT][hapmap]
rs6967587	0.81[JPT][hapmap]
rs6971241	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs717352	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs725506	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs7357199	0.80[JPT][hapmap]
rs7780887	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs7797912	0.87[JPT][hapmap]
rs7805792	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs7806591	0.87[JPT][hapmap]
rs7808168	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs7810119	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs8180737	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs917114	0.87[JPT][hapmap]
rs9641343	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs9641345	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs999895	0.94[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104866400-104879400	Weak transcription	NHLF	lung
2	chr7:104866400-104881000	Weak transcription	GM12878-XiMat	blood
3	chr7:104866400-104881600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:104866400-104887200	Weak transcription	Small Intestine	intestine
5	chr7:104866600-104878800	Weak transcription	A549	lung
6	chr7:104866600-104881200	Weak transcription	NHDF-Ad	bronchial
7	chr7:104868400-104885400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:104869400-104880000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:104869400-104885000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:104869400-104885000	Weak transcription	Lung	lung
12	chr7:104869400-104885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:104869400-104885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:104869600-104885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:104869600-104885000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:104869600-104885000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:104869600-104885000	Weak transcription	Fetal Stomach	stomach
18	chr7:104869600-104886400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:104870800-104889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:104871000-104885600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:104871000-104885800	Weak transcription	HSMMtube	muscle
23	chr7:104871200-104885600	Weak transcription	HSMM	muscle
24	chr7:104872200-104897200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:104872400-104886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:104872600-104880200	Weak transcription	Primary B cells from cord blood	blood
27	chr7:104872600-104887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:104872600-104889200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:104872800-104880000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:104872800-104886200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:104874000-104885600	Weak transcription	K562	blood
32	chr7:104875000-104893800	Genic enhancers	Dnd41	blood
33	chr7:104875600-104879600	Weak transcription	Fetal Heart	heart
34	chr7:104875600-104885000	Weak transcription	Fetal Thymus	thymus
35	chr7:104876200-104882400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:104876400-104879000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:104876400-104879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:104876400-104880600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr7:104876600-104882200	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:104876800-104878800	Enhancers	NHEK	skin
41	chr7:104876800-104879600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr7:104876800-104882400	Enhancers	Brain Angular Gyrus	brain
43	chr7:104876800-104882400	Enhancers	Colon Smooth Muscle	Colon
44	chr7:104877000-104879000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:104877000-104879000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:104877000-104880800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:104877000-104882400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:104877200-104879000	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:104877200-104879200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links