Variant report

Variant	rs7009650
Chromosome Location	chr8:100045886-100045887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100038641..100040285-chr8:100044049..100046695,2	K562	blood:
2	chr8:99305590..99307104-chr8:100043054..100045983,2	MCF-7	breast:
3	chr8:100043126..100045218-chr8:100045409..100048093,2	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10091639	0.83[AMR][1000 genomes]
rs10094807	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098138	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10103431	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10105136	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10112186	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10113197	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808361	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10955192	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10955194	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955195	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955196	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955204	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11773983	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11988987	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11989177	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992517	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11994620	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12549438	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12676262	0.84[AMR][1000 genomes]
rs12678371	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13250430	0.84[AMR][1000 genomes]
rs13250549	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13265237	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13271726	0.92[AMR][1000 genomes]
rs13275250	0.87[ASN][1000 genomes]
rs13275821	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1989645	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28479500	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28617503	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28739504	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019295	0.85[AMR][1000 genomes]
rs34788463	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35974745	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3890706	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3922710	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4132545	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4366054	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4374957	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4380901	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4490802	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4510823	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4517095	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4596618	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4612311	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734419	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734420	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734426	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4735589	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735591	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735592	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735600	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4735601	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5019794	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55893057	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58752318	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59264629	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60042922	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6468654	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6468655	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6468656	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6468658	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6468660	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6468661	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468664	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468668	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6468670	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6468673	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6468674	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6651157	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988226	0.81[AMR][1000 genomes]
rs6989751	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999263	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010582	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7011067	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7011752	0.84[AMR][1000 genomes]
rs7012147	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7012312	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7012513	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014877	0.84[AMR][1000 genomes]
rs72668472	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72670298	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72670300	0.89[AMR][1000 genomes]
rs734034	0.81[ASN][1000 genomes]
rs7341678	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7459833	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7460625	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7461615	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7463462	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7464318	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7464742	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7464775	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7465566	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7816323	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7816673	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7816843	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817200	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818037	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7823291	0.81[AMR][1000 genomes]
rs7824113	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7826207	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7832780	0.86[AMR][1000 genomes]
rs7835049	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7837218	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7837669	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837937	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7843899	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7844224	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9642957	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9774546	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9792181	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:100026200-100047000	Weak transcription	Gastric	stomach
3	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
4	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:100026400-100046200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:100026600-100047000	Weak transcription	Lung	lung
7	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:100027000-100046200	Weak transcription	HSMMtube	muscle
9	chr8:100027000-100046200	Weak transcription	NH-A	brain
10	chr8:100027000-100046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:100027200-100046400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:100027200-100057000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:100028400-100046800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:100028600-100053000	Weak transcription	Hela-S3	cervix
15	chr8:100029600-100086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:100030600-100047000	Weak transcription	Pancreas	Pancrea
17	chr8:100030800-100047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:100032200-100051600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:100032200-100084000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:100032400-100046400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:100032400-100077800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:100032600-100046200	Weak transcription	Osteobl	bone
23	chr8:100032600-100086200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:100033200-100048800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:100033400-100051200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:100036600-100046400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:100036800-100046200	Weak transcription	NHLF	lung
28	chr8:100036800-100057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:100036800-100068400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:100037000-100046200	Weak transcription	NHEK	skin
31	chr8:100037000-100046600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:100037000-100046800	Weak transcription	Ovary	ovary
33	chr8:100037000-100048800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:100037000-100051200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:100037000-100056800	Weak transcription	Fetal Kidney	kidney
36	chr8:100037200-100046200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:100037200-100046200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:100037200-100056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:100039800-100046200	Weak transcription	HepG2	liver
40	chr8:100039800-100046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:100040600-100086800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:100042200-100047400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:100042600-100047800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:100043600-100046000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr8:100044000-100046000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr8:100044000-100047000	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr8:100044000-100047000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:100044000-100047400	ZNF genes & repeats	GM12878-XiMat	blood
49	chr8:100044200-100059400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:100044400-100046200	Weak transcription	NHDF-Ad	bronchial

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