Variant report

Variant	rs2762345
Chromosome Location	chr6:35023130-35023131
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	POLR2A	chr6:35023056-35023395	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35020474..35024244-chr6:35026178..35030264,6	K562	blood:
2	chr6:35020203..35022159-chr6:35023011..35024992,4	K562	blood:
3	chr6:35021741..35024244-chr6:35027456..35030264,2	K562	blood:

Variant related genes	Relation type
ANKS1A	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12525532	0.84[ASN][1000 genomes]
rs12661389	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1535815	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2257663	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494099	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2494100	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689094	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2762335	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2762337	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2762338	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2762339	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2762340	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2820223	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2820226	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820228	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820232	0.96[ASN][1000 genomes]
rs2820233	0.94[ASN][1000 genomes]
rs2820234	0.94[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:115 , 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	chr6:35016400-35023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:35016800-35026400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:35016800-35026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:35016800-35027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:35016800-35028000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:35016800-35028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:35017000-35026000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:35017000-35026200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:35017000-35026200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:35017400-35028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:35017400-35028600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:35017600-35028000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:35017600-35036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:35017800-35024800	Weak transcription	Fetal Heart	heart
18	chr6:35017800-35027600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
20	chr6:35018200-35025400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:35018200-35025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
23	chr6:35018600-35025000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:35018600-35027800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:35018800-35026600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:35018800-35029000	Weak transcription	NHDF-Ad	bronchial
28	chr6:35018800-35038200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:35019400-35027600	Weak transcription	Dnd41	blood
31	chr6:35020000-35025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
33	chr6:35020200-35037600	Strong transcription	Fetal Intestine Large	intestine
34	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:35020600-35034800	Strong transcription	Primary T cells from cord blood	blood
36	chr6:35020800-35025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:35021000-35037000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr6:35021000-35037600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:35021200-35023600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:35021200-35023800	Strong transcription	Liver	Liver
41	chr6:35021200-35024000	Strong transcription	Primary B cells from cord blood	blood
42	chr6:35021200-35025400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:35021200-35025800	Weak transcription	Fetal Brain Female	brain
44	chr6:35021200-35026800	Weak transcription	Psoas Muscle	Psoas
45	chr6:35021200-35027400	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr6:35021200-35028000	Weak transcription	NHLF	lung
47	chr6:35021200-35028600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:35021200-35034800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:35021400-35024600	Strong transcription	Adipose Nuclei	Adipose
50	chr6:35021400-35024600	Weak transcription	Ovary	ovary

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