Variant report

Variant	rs10258371
Chromosome Location	chr7:5085646-5085647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5012957..5014985-chr7:5085347..5086905,2	MCF-7	breast:
2	chr7:5085620..5087324-chr7:5089437..5091474,2	K562	blood:
3	chr7:4920954..4923771-chr7:5084405..5086180,2	K562	blood:

Variant related genes	Relation type
ENSG00000157927	Chromatin interaction
ENSG00000196204	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10227163	0.87[ASN][1000 genomes]
rs10227289	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231607	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234867	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244918	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247778	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266832	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268122	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270777	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10274596	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276341	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378446	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445422	0.84[EUR][1000 genomes]
rs28584451	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28645895	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28770605	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924251	1.00[ASN][1000 genomes]
rs4475394	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4548076	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55787911	1.00[ASN][1000 genomes]
rs57875076	1.00[ASN][1000 genomes]
rs59887595	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60629388	1.00[ASN][1000 genomes]
rs6463203	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463205	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463207	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463208	0.89[ASN][1000 genomes]
rs6463230	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463231	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463235	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67717765	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947228	0.83[EUR][1000 genomes]
rs6949280	0.87[EUR][1000 genomes]
rs6959836	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961168	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961190	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961334	1.00[ASN][1000 genomes]
rs6971146	1.00[ASN][1000 genomes]
rs6978131	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979525	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046002	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051675	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051676	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051679	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051685	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73673288	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777964	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780482	0.87[ASN][1000 genomes]
rs7797055	1.00[ASN][1000 genomes]
rs7797127	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798073	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798542	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798891	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799248	1.00[ASN][1000 genomes]
rs7800011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802590	0.88[EUR][1000 genomes]
rs7803740	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
9	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv966749	chr7:5036761-5098568	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1034446	chr7:5066181-5108770	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1025644	chr7:5066181-5114089	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1032880	chr7:5066181-5205932	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1030384	chr7:5066181-5210555	Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv966924	chr7:5070042-5086142	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5084400-5087200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:5084600-5086400	Active TSS	Brain Substantia Nigra	brain
3	chr7:5084600-5087000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:5084800-5086000	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr7:5084800-5086800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5084800-5086800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:5084800-5086800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:5084800-5086800	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr7:5085000-5086000	Active TSS	Fetal Brain Female	brain
10	chr7:5085000-5086000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:5085000-5086200	Active TSS	Liver	Liver
12	chr7:5085000-5086400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:5085000-5086400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:5085000-5086400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:5085000-5086400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:5085000-5086400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:5085000-5086400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr7:5085000-5086400	Active TSS	Brain Anterior Caudate	brain
19	chr7:5085000-5086400	Active TSS	Brain Hippocampus Middle	brain
20	chr7:5085000-5086400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:5085000-5086400	Active TSS	Colonic Mucosa	Colon
22	chr7:5085000-5086400	Active TSS	Colon Smooth Muscle	Colon
23	chr7:5085000-5086400	Active TSS	Fetal Kidney	kidney
24	chr7:5085000-5086400	Active TSS	Fetal Lung	lung
25	chr7:5085000-5086400	Active TSS	Ovary	ovary
26	chr7:5085000-5086400	Active TSS	Pancreas	Pancrea
27	chr7:5085000-5086400	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:5085000-5086400	Active TSS	Right Ventricle	heart
29	chr7:5085000-5086400	Active TSS	Thymus	Thymus
30	chr7:5085000-5086400	Active TSS	HSMM	muscle
31	chr7:5085000-5086400	Active TSS	HSMMtube	muscle
32	chr7:5085000-5086400	Active TSS	NHDF-Ad	bronchial
33	chr7:5085000-5086400	Active TSS	NHEK	skin
34	chr7:5085000-5086600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:5085000-5086600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:5085000-5086600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:5085000-5086600	Active TSS	Duodenum Mucosa	Duodenum
38	chr7:5085000-5086600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:5085000-5086600	Active TSS	Psoas Muscle	Psoas
40	chr7:5085000-5086800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:5085000-5086800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:5085000-5087000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:5085000-5087000	Active TSS	Primary T cells from cord blood	blood
44	chr7:5085000-5087000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:5085000-5087000	Active TSS	Fetal Intestine Large	intestine
46	chr7:5085000-5087200	Active TSS	A549	lung
47	chr7:5085000-5087200	Active TSS	GM12878-XiMat	blood
48	chr7:5085200-5086000	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:5085200-5086000	Active TSS	Primary B cells from cord blood	blood
50	chr7:5085200-5086200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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