Variant report

Variant	rs7594590
Chromosome Location	chr2:73468467-73468468
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	chr2:73468422-73468691	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73468320..73470130-chr2:73476491..73478462,2	MCF-7	breast:

Variant related genes	Relation type
CCT7	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10185970	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 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	chr2:73463000-73469000	Weak transcription	Colonic Mucosa	Colon
2	chr2:73463000-73482400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:73463200-73469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:73463200-73470200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:73463200-73470400	Weak transcription	Fetal Kidney	kidney
6	chr2:73463200-73471400	Weak transcription	Fetal Brain Male	brain
7	chr2:73463200-73471400	Weak transcription	Stomach Mucosa	stomach
8	chr2:73463400-73469800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:73463400-73471000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:73463600-73483800	Strong transcription	Primary B cells from cord blood	blood
11	chr2:73464000-73476200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73464000-73480800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:73464000-73482000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr2:73464000-73482200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:73464200-73480400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:73464200-73483000	Strong transcription	Fetal Thymus	thymus
17	chr2:73464400-73484000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:73464600-73469600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:73464600-73483400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:73464800-73471200	Weak transcription	Pancreas	Pancrea
21	chr2:73464800-73471200	Weak transcription	Right Ventricle	heart
22	chr2:73464800-73476200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:73464800-73481000	Strong transcription	Placenta	Placenta
24	chr2:73464800-73483400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:73464800-73483800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:73464800-73495800	Weak transcription	Right Atrium	heart
27	chr2:73465000-73484600	Strong transcription	Primary T cells from cord blood	blood
28	chr2:73465200-73469000	Strong transcription	Fetal Brain Female	brain
29	chr2:73465400-73469800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:73465400-73482200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:73465400-73482600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:73465400-73482800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:73465600-73481000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:73465600-73481600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:73465600-73482200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:73465800-73469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:73465800-73481800	Strong transcription	HSMM	muscle
38	chr2:73465800-73482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:73465800-73482400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:73465800-73482600	Strong transcription	Fetal Intestine Large	intestine
41	chr2:73466000-73470200	Weak transcription	Fetal Heart	heart
42	chr2:73466000-73481400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:73466000-73482200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:73466000-73482400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:73466000-73482400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:73466200-73469600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:73466200-73470000	Weak transcription	Small Intestine	intestine
48	chr2:73466200-73480600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr2:73466200-73481600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:73466200-73481800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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