Variant report

Variant	rs7846100
Chromosome Location	chr8:61532461-61532462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61531872..61533936-chr8:61540143..61541661,2	MCF-7	breast:
2	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:
3	chr8:61531895..61534395-chr8:61564231..61565929,2	MCF-7	breast:
4	chr8:61527800..61530109-chr8:61531903..61534207,2	K562	blood:
5	chr8:61532436..61534213-chr8:61590243..61592692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16926265	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819014	1.00[CEU][hapmap]
rs7826092	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
3	chr8:61515600-61533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:61516200-61533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
8	chr8:61518200-61532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:61518200-61533200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:61518200-61533200	Weak transcription	A549	lung
11	chr8:61518200-61535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:61518200-61535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:61518200-61537200	Weak transcription	Gastric	stomach
14	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
15	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:61519000-61535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:61519000-61535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
19	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:61520600-61535200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:61522000-61535000	Weak transcription	Thymus	Thymus
22	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:61522200-61533200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:61522400-61532600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:61522600-61533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
29	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:61523000-61532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:61523000-61533400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:61523200-61533200	Weak transcription	Colonic Mucosa	Colon
33	chr8:61523200-61535000	Weak transcription	Lung	lung
34	chr8:61523800-61533200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:61524000-61535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:61524200-61533200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:61524200-61538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:61527200-61535400	Weak transcription	K562	blood
39	chr8:61527600-61533000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:61527600-61534000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:61527800-61532800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:61528800-61535800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:61529200-61535600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:61529200-61536200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:61529200-61538200	Strong transcription	Primary B cells from cord blood	blood
46	chr8:61530200-61535600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:61530200-61536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:61530400-61536200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:61531400-61532600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:61531400-61532800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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