Variant report

Variant	rs4720402
Chromosome Location	chr7:4780961-4780962
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4778391..4781100-chr7:4828582..4831115,2	K562	blood:
2	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
3	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10228886	0.88[CEU][hapmap];0.80[YRI][hapmap]
rs10232008	0.88[EUR][1000 genomes]
rs10261971	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12701913	0.88[EUR][1000 genomes]
rs3087749	0.92[CEU][hapmap]
rs4720401	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6944865	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6973046	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
2	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:4766000-4783600	Weak transcription	HMEC	breast
5	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:4778800-4782200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:4778800-4782400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:4779000-4781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4779200-4781400	Weak transcription	Fetal Brain Female	brain
10	chr7:4779400-4781200	Weak transcription	GM12878-XiMat	blood
11	chr7:4779400-4782600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:4779400-4783200	Weak transcription	Psoas Muscle	Psoas
13	chr7:4779600-4781200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:4779600-4781200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:4779600-4781200	Weak transcription	Ovary	ovary
16	chr7:4779600-4781200	Weak transcription	Stomach Mucosa	stomach
17	chr7:4779600-4781400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:4779600-4781400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:4779600-4781400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:4779600-4781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:4779600-4781400	Strong transcription	Fetal Intestine Small	intestine
22	chr7:4779600-4781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:4779600-4781400	Weak transcription	HSMMtube	muscle
24	chr7:4779600-4781400	Weak transcription	K562	blood
25	chr7:4779600-4781600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:4779600-4781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:4779600-4781600	Weak transcription	Fetal Lung	lung
28	chr7:4779600-4781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:4779600-4781800	Weak transcription	NH-A	brain
30	chr7:4779600-4782200	Weak transcription	Fetal Kidney	kidney
31	chr7:4779600-4782600	Weak transcription	HSMM	muscle
32	chr7:4779600-4782800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:4779600-4783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:4779600-4783200	Weak transcription	Right Atrium	heart
35	chr7:4779600-4783400	Weak transcription	Small Intestine	intestine
36	chr7:4779600-4783800	Weak transcription	NHDF-Ad	bronchial
37	chr7:4779600-4785400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:4779800-4781200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:4779800-4781200	Weak transcription	Left Ventricle	heart
40	chr7:4779800-4781400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:4779800-4781400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:4779800-4781400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:4779800-4781600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:4779800-4781600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:4779800-4781600	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:4779800-4781600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:4779800-4783200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:4779800-4783200	Weak transcription	Fetal Heart	heart
49	chr7:4779800-4783800	Weak transcription	Primary B cells from cord blood	blood
50	chr7:4780000-4782000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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