Variant report

Variant	rs4972836
Chromosome Location	chr2:173395763-173395764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10497383	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497384	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11883720	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887938	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892037	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896937	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11897024	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11898822	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574258	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17676773	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17677404	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17727678	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17727732	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17739735	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17739946	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2178475	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272498	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36002642	0.82[ASN][1000 genomes]
rs3792255	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3792256	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3828342	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4074913	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4405727	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972510	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972511	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4972832	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972837	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55802347	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59524026	0.85[AFR][1000 genomes]
rs60442917	0.83[AFR][1000 genomes]
rs6433359	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433360	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6715294	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728123	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728419	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6731691	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6746138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6755605	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72892573	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72892577	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72892596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892601	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894375	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72894396	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72894400	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72896105	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7566921	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173392000-173398200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:173392000-173400000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:173393600-173398600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:173394800-173395800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:173395000-173395800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr2:173395000-173395800	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr2:173395000-173395800	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr2:173395000-173395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:173395000-173396600	Enhancers	Fetal Intestine Small	intestine
12	chr2:173395200-173395800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:173395200-173396600	Enhancers	Fetal Intestine Large	intestine
14	chr2:173395200-173396800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:173395400-173396000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:173395400-173396000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:173395400-173396600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:173395600-173396800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:173395600-173397200	Enhancers	Stomach Mucosa	stomach
20	chr2:173395600-173397600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:173395600-173398200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:173395600-173398400	Weak transcription	Primary T cells fromperipheralblood	blood

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