Variant report

Variant	rs867196
Chromosome Location	chr4:87971600-87971601
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87969741..87972043-chr4:88141021..88142542,2	MCF-7	breast:
2	chr4:87926596..87928915-chr4:87970659..87972204,2	MCF-7	breast:
3	chr4:87927007..87928738-chr4:87968800..87971824,3	K562	blood:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10015639	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10032244	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11729622	0.87[ASN][1000 genomes]
rs13126334	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13127250	0.88[ASN][1000 genomes]
rs1471251	0.81[CEU][hapmap]
rs2007132	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053769	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2053770	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28495007	0.81[EUR][1000 genomes]
rs340626	0.99[ASN][1000 genomes]
rs340630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340633	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs340636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs340637	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs340638	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs340639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs340641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs340642	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs340643	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs340648	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs340650	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs340651	0.86[ASN][1000 genomes]
rs375795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443459	0.99[ASN][1000 genomes]
rs4693798	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4693800	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58633957	0.99[ASN][1000 genomes]
rs6531941	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6531946	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811587	0.90[ASN][1000 genomes]
rs6839933	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9715807	0.88[ASN][1000 genomes]

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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
2	chr4:87961000-87979200	Weak transcription	HSMMtube	muscle
3	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
5	chr4:87964800-87979200	Weak transcription	A549	lung
6	chr4:87966200-87979200	Weak transcription	NH-A	brain
7	chr4:87967000-87975000	Strong transcription	Dnd41	blood
8	chr4:87967400-87973000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:87967600-87975000	Weak transcription	Stomach Mucosa	stomach
10	chr4:87967800-87972200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:87967800-87973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:87967800-87974600	Strong transcription	Fetal Intestine Large	intestine
13	chr4:87968600-87971800	Weak transcription	Aorta	Aorta
14	chr4:87968600-87971800	Weak transcription	Colonic Mucosa	Colon
15	chr4:87968600-87971800	Weak transcription	Right Atrium	heart
16	chr4:87968600-87974400	Enhancers	Colon Smooth Muscle	Colon
17	chr4:87968600-87975400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:87968600-87979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:87968800-87971800	Weak transcription	Fetal Stomach	stomach
20	chr4:87968800-87972000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:87968800-87972000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:87968800-87972000	Weak transcription	Pancreas	Pancrea
23	chr4:87968800-87973200	Weak transcription	Lung	lung
24	chr4:87968800-87973800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:87968800-87973800	Weak transcription	Small Intestine	intestine
26	chr4:87968800-87975000	Weak transcription	Gastric	stomach
27	chr4:87968800-87975400	Weak transcription	Spleen	Spleen
28	chr4:87968800-87975600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:87968800-87975800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:87968800-87975800	Weak transcription	NHEK	skin
31	chr4:87968800-87975800	Weak transcription	NHLF	lung
32	chr4:87968800-87976200	Weak transcription	NHDF-Ad	bronchial
33	chr4:87968800-87977600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:87968800-87978800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:87968800-87979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:87968800-87979200	Weak transcription	HMEC	breast
37	chr4:87968800-87979200	Weak transcription	HSMM	muscle
38	chr4:87968800-87979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:87968800-87979400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:87968800-87980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:87968800-87982000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:87968800-87982200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:87968800-87983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:87969000-87971600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:87969000-87974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:87969000-87975000	Weak transcription	Esophagus	oesophagus
48	chr4:87969000-87976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:87969200-87971600	Weak transcription	Fetal Intestine Small	intestine

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