Variant report

Variant	rs58850273
Chromosome Location	chr6:35025497-35025498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:35025477-35026535	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ANKS1A	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1034450	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110520	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868695	1.00[ASN][1000 genomes]
rs16868699	1.00[ASN][1000 genomes]
rs16872293	1.00[ASN][1000 genomes]
rs2004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228265	1.00[ASN][1000 genomes]
rs28627111	1.00[ASN][1000 genomes]
rs2894400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34644591	1.00[ASN][1000 genomes]
rs35455943	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270046	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270048	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41270062	1.00[ASN][1000 genomes]
rs56809926	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229653	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57794912	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57976333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58796597	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59895076	1.00[ASN][1000 genomes]
rs60086237	1.00[ASN][1000 genomes]
rs60113507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60569490	1.00[ASN][1000 genomes]
rs6900879	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901580	1.00[ASN][1000 genomes]
rs6904477	1.00[ASN][1000 genomes]
rs6905732	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923025	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934083	1.00[ASN][1000 genomes]
rs6938138	1.00[ASN][1000 genomes]
rs73403830	1.00[ASN][1000 genomes]
rs73403834	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403847	1.00[ASN][1000 genomes]
rs73403887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405709	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405759	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405765	1.00[ASN][1000 genomes]
rs73405768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407610	1.00[ASN][1000 genomes]
rs73407613	1.00[ASN][1000 genomes]
rs73407619	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407641	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407650	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407675	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409710	1.00[ASN][1000 genomes]
rs743965	1.00[ASN][1000 genomes]
rs7773319	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462062	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462064	1.00[ASN][1000 genomes]
rs9469960	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469967	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34994600-35036000	Weak transcription	K562	blood
2	chr6:35015800-35044200	Weak transcription	HMEC	breast
3	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
4	chr6:35016800-35026400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:35016800-35026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:35016800-35027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:35016800-35028000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:35016800-35028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:35017000-35026000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:35017000-35026200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:35017000-35026200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:35017400-35028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:35017400-35028600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:35017600-35028000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:35017600-35036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:35017800-35027600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
18	chr6:35018200-35025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
20	chr6:35018600-35027800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:35018800-35026600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:35018800-35029000	Weak transcription	NHDF-Ad	bronchial
24	chr6:35018800-35038200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:35019400-35027600	Weak transcription	Dnd41	blood
27	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
28	chr6:35020200-35037600	Strong transcription	Fetal Intestine Large	intestine
29	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:35020600-35034800	Strong transcription	Primary T cells from cord blood	blood
31	chr6:35021000-35037000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:35021000-35037600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:35021200-35025800	Weak transcription	Fetal Brain Female	brain
34	chr6:35021200-35026800	Weak transcription	Psoas Muscle	Psoas
35	chr6:35021200-35027400	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr6:35021200-35028000	Weak transcription	NHLF	lung
37	chr6:35021200-35028600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:35021200-35034800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:35021400-35025600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:35021400-35025600	Strong transcription	Fetal Lung	lung
41	chr6:35021400-35036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:35021400-35037400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:35021600-35025600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:35021600-35025600	Weak transcription	Stomach Mucosa	stomach
45	chr6:35021600-35027400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:35021600-35028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:35021600-35036800	Strong transcription	Colonic Mucosa	Colon
48	chr6:35021800-35028800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:35021800-35055400	Weak transcription	HSMM	muscle
50	chr6:35022000-35034800	Strong transcription	Rectal Mucosa Donor 31	rectum

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