Variant report

Variant	rs73305327
Chromosome Location	chr7:4787430-4787431
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4680311..4683214-chr7:4786565..4789447,2	K562	blood:
2	chr7:4784548..4788460-chr7:4798127..4799937,3	MCF-7	breast:
3	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11541132	1.00[AMR][1000 genomes]
rs55638183	1.00[EUR][1000 genomes]
rs56025211	1.00[AMR][1000 genomes]
rs57323934	1.00[AMR][1000 genomes]
rs60226766	1.00[AMR][1000 genomes]
rs60814186	1.00[AMR][1000 genomes]
rs61269946	1.00[AMR][1000 genomes]
rs6947096	1.00[AMR][1000 genomes]
rs73303367	1.00[AMR][1000 genomes]
rs73305304	1.00[AMR][1000 genomes]
rs73305322	1.00[AMR][1000 genomes]
rs73305336	1.00[AMR][1000 genomes]
rs73305389	1.00[AMR][1000 genomes]
rs73305393	1.00[AMR][1000 genomes]
rs73310599	1.00[AMR][1000 genomes]
rs73312647	1.00[AMR][1000 genomes]
rs73316110	1.00[AMR][1000 genomes]
rs73318118	1.00[AMR][1000 genomes]
rs73318133	1.00[AMR][1000 genomes]
rs73318156	1.00[AMR][1000 genomes]
rs73671904	1.00[EUR][1000 genomes]
rs73674093	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv971482	chr7:4786671-4795436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4783200-4788200	Enhancers	Fetal Heart	heart
2	chr7:4783400-4791000	Weak transcription	Gastric	stomach
3	chr7:4784200-4801400	Weak transcription	Small Intestine	intestine
4	chr7:4784600-4794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:4784800-4793600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:4785200-4795000	Weak transcription	Psoas Muscle	Psoas
7	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
8	chr7:4785400-4787800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:4785600-4788200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:4786000-4787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:4786000-4787800	Enhancers	Right Atrium	heart
13	chr7:4786000-4788000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:4786000-4788400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:4786000-4788400	Enhancers	Fetal Kidney	kidney
16	chr7:4786000-4788600	Genic enhancers	Fetal Intestine Small	intestine
17	chr7:4786000-4789000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:4786000-4789200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:4786000-4789400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:4786000-4789600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:4786000-4789600	Enhancers	Placenta	Placenta
22	chr7:4786000-4789800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:4786000-4790000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:4786000-4790000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:4786000-4790200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:4786000-4791000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:4786000-4793800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:4786000-4794200	Weak transcription	Aorta	Aorta
29	chr7:4786000-4794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:4786200-4787600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:4786200-4787600	Enhancers	Colon Smooth Muscle	Colon
32	chr7:4786200-4787600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:4786200-4788200	Enhancers	Fetal Lung	lung
34	chr7:4786200-4788200	Genic enhancers	A549	lung
35	chr7:4786200-4788400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:4786200-4788600	Genic enhancers	Fetal Intestine Large	intestine
37	chr7:4786200-4788800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:4786200-4789000	Strong transcription	K562	blood
39	chr7:4786200-4789200	Genic enhancers	Fetal Stomach	stomach
40	chr7:4786200-4789400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:4786200-4790000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:4786200-4790000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:4786200-4790200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:4786400-4787600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:4786400-4787600	Enhancers	Esophagus	oesophagus
46	chr7:4786400-4787600	Enhancers	Left Ventricle	heart
47	chr7:4786400-4787600	Enhancers	Lung	lung
48	chr7:4786400-4788000	Enhancers	Right Ventricle	heart
49	chr7:4786400-4788200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr7:4786400-4788400	Strong transcription	Fetal Brain Female	brain

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