Variant report

Variant	rs3807370
Chromosome Location	chr7:150673314-150673315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150646673..150650094-chr7:150670937..150674779,4	MCF-7	breast:
2	chr7:150661035..150665420-chr7:150665668..150673641,9	MCF-7	breast:
3	chr7:150671828..150674694-chr7:150692153..150695076,2	MCF-7	breast:
4	chr7:150671455..150673565-chr7:150752052..150755338,3	MCF-7	breast:
5	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
6	chr7:150654869..150656816-chr7:150670691..150673405,2	MCF-7	breast:
7	chr7:150661173..150665225-chr7:150669426..150673358,7	MCF-7	breast:
8	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
9	chr7:150671778..150674151-chr7:150678272..150681379,4	MCF-7	breast:
10	chr7:150671324..150673603-chr7:150688182..150691343,3	MCF-7	breast:
11	chr7:150671887..150673971-chr7:150915991..150917932,2	K562	blood:
12	chr7:150670508..150673387-chr7:150723224..150725668,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164885	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000197150	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236214	0.92[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.81[EUR][1000 genomes]
rs11771808	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1547958	0.88[GIH][hapmap]
rs1800779	0.92[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800781	0.95[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs1800783	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805123	0.88[GIH][hapmap]
rs2070744	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373962	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968854	0.88[GIH][hapmap]
rs2968864	0.89[GIH][hapmap]
rs3793341	0.85[ASN][1000 genomes]
rs3793342	0.95[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3918169	0.85[ASN][1000 genomes]
rs3918186	0.82[JPT][hapmap]
rs4496877	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725984	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6946415	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6947240	0.88[GIH][hapmap]
rs6951150	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6953274	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	esv3355513	chr7:150670544-150673392	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150664400-150673600	Enhancers	Fetal Lung	lung
2	chr7:150664600-150674000	Enhancers	Fetal Brain Male	brain
3	chr7:150670800-150674200	Bivalent Enhancer	Placenta	Placenta
4	chr7:150671200-150673400	Flanking Active TSS	Dnd41	blood
5	chr7:150672200-150673400	Enhancers	Lung	lung
6	chr7:150672200-150674000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:150672200-150674000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr7:150672200-150674200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:150672200-150674400	Weak transcription	Gastric	stomach
10	chr7:150672400-150673800	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr7:150672400-150673800	Flanking Active TSS	Fetal Heart	heart
12	chr7:150672400-150673800	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr7:150672400-150674200	Weak transcription	Ovary	ovary
14	chr7:150672400-150674600	Flanking Active TSS	Fetal Brain Female	brain
15	chr7:150672400-150674800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr7:150672400-150674800	Enhancers	Pancreas	Pancrea
17	chr7:150672400-150674800	Flanking Active TSS	K562	blood
18	chr7:150672600-150673400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:150672600-150673600	Enhancers	Brain Germinal Matrix	brain
20	chr7:150672600-150674000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:150672600-150674000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr7:150672600-150674000	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr7:150672600-150674200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:150672600-150674200	Active TSS	Right Ventricle	heart
27	chr7:150672600-150674400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:150672600-150674400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:150672600-150674400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:150672600-150674800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr7:150672600-150674800	Bivalent Enhancer	Fetal Thymus	thymus
34	chr7:150672800-150673400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150672800-150673400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:150672800-150673400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:150672800-150673600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:150672800-150673600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:150672800-150673600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:150672800-150673600	Enhancers	Brain Substantia Nigra	brain
41	chr7:150672800-150673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:150672800-150673600	Weak transcription	HSMMtube	muscle
43	chr7:150672800-150673800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr7:150672800-150673800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr7:150672800-150673800	Enhancers	A549	lung
46	chr7:150672800-150674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr7:150672800-150674000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr7:150672800-150674000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:150672800-150674000	Enhancers	Duodenum Mucosa	Duodenum
50	chr7:150672800-150674600	Bivalent Enhancer	HepG2	liver

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