Variant report

Variant	rs3777207
Chromosome Location	chr5:95231115-95231116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95231005..95233833-chr5:95296115..95298783,2	K562	blood:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10035477	0.80[CEU][hapmap]
rs10069748	0.80[CEU][hapmap]
rs1043381	0.80[CEU][hapmap]
rs1057963	0.80[CEU][hapmap]
rs1057964	0.80[CEU][hapmap]
rs11135442	0.80[CEU][hapmap]
rs11738945	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs11741590	0.80[CEU][hapmap]
rs11742959	0.92[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11744881	0.80[CEU][hapmap]
rs1423268	0.80[CEU][hapmap]
rs1423269	0.80[CEU][hapmap]
rs1458018	0.80[CEU][hapmap]
rs17085231	0.80[CEU][hapmap]
rs17085249	0.80[CEU][hapmap]
rs17085333	0.86[TSI][hapmap]
rs17085428	1.00[YRI][hapmap]
rs1841010	0.80[CEU][hapmap]
rs2161318	0.86[TSI][hapmap]
rs2270554	0.80[CEU][hapmap]
rs2348984	0.91[CEU][hapmap]
rs2546199	0.86[TSI][hapmap]
rs2548594	0.80[CEU][hapmap]
rs3777162	0.86[TSI][hapmap]
rs3777165	0.86[TSI][hapmap]
rs3777167	0.86[TSI][hapmap]
rs3777171	0.86[TSI][hapmap]
rs3777173	0.80[MEX][hapmap];0.86[TSI][hapmap]
rs3777175	0.86[TSI][hapmap]
rs3777179	0.93[TSI][hapmap]
rs3777184	0.80[CEU][hapmap]
rs3777185	0.80[CEU][hapmap]
rs3777188	0.80[CEU][hapmap]
rs3777189	0.80[CEU][hapmap]
rs3777190	0.80[CEU][hapmap]
rs3777194	0.80[CEU][hapmap]
rs3777196	0.80[CEU][hapmap]
rs3777200	0.80[CEU][hapmap]
rs3777204	0.80[CEU][hapmap]
rs3815768	0.80[CEU][hapmap]
rs4642392	0.80[CEU][hapmap]
rs57949227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59307279	0.84[AFR][1000 genomes]
rs6556893	0.80[CEU][hapmap]
rs6881872	0.86[TSI][hapmap]
rs6885567	0.80[CEU][hapmap]
rs6889029	0.80[CEU][hapmap]
rs7705279	0.86[TSI][hapmap]
rs7716691	0.92[CEU][hapmap]
rs918629	0.86[TSI][hapmap]
rs9314162	0.80[CEU][hapmap]
rs967546	0.80[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
3	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
8	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
9	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:95220000-95242000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:95220000-95245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:95220200-95235400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:95220400-95236800	Strong transcription	HMEC	breast
15	chr5:95220600-95236200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:95220600-95243200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:95220800-95234000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:95220800-95235400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr5:95220800-95235600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:95220800-95237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:95220800-95237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:95220800-95240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:95221000-95236600	Strong transcription	NH-A	brain
24	chr5:95221200-95232400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95221400-95236200	Strong transcription	HSMM	muscle
26	chr5:95221600-95235800	Strong transcription	Osteobl	bone
27	chr5:95221600-95252200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:95221800-95232400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:95221800-95233600	Weak transcription	Fetal Lung	lung
30	chr5:95222000-95241600	Strong transcription	GM12878-XiMat	blood
31	chr5:95222000-95252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:95222800-95232600	Strong transcription	NHLF	lung
33	chr5:95222800-95235600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:95223400-95237600	Strong transcription	Placenta	Placenta
36	chr5:95223800-95234800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:95223800-95237000	Strong transcription	NHEK	skin
38	chr5:95224000-95237600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:95224200-95237600	Weak transcription	Stomach Mucosa	stomach
40	chr5:95225000-95236400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:95225600-95232400	Strong transcription	Fetal Intestine Large	intestine
42	chr5:95225800-95231800	Strong transcription	Fetal Intestine Small	intestine
43	chr5:95226000-95236600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:95226000-95237600	Weak transcription	Fetal Kidney	kidney
45	chr5:95226400-95232200	Weak transcription	K562	blood
46	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
47	chr5:95227400-95232600	Strong transcription	HepG2	liver
48	chr5:95227400-95236000	Strong transcription	Hela-S3	cervix
49	chr5:95227400-95251600	Weak transcription	Primary T cells from cord blood	blood
50	chr5:95227400-95253800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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