Variant report

Variant	rs2612679
Chromosome Location	chr4:175373985-175373986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035804	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133039	0.88[ASN][1000 genomes]
rs11725050	0.95[ASN][1000 genomes]
rs11930740	0.85[ASN][1000 genomes]
rs12642478	0.95[ASN][1000 genomes]
rs12643801	0.91[ASN][1000 genomes]
rs12644593	0.95[ASN][1000 genomes]
rs12645224	0.85[ASN][1000 genomes]
rs12646844	0.91[ASN][1000 genomes]
rs1365611	0.95[ASN][1000 genomes]
rs1365612	0.95[ASN][1000 genomes]
rs1426941	0.91[ASN][1000 genomes]
rs17293172	0.95[ASN][1000 genomes]
rs17293403	0.94[ASN][1000 genomes]
rs1820520	0.95[ASN][1000 genomes]
rs2244093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244289	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2332897	0.95[ASN][1000 genomes]
rs2555622	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555623	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2612663	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613542	0.87[ASN][1000 genomes]
rs56808147	0.85[ASN][1000 genomes]
rs58959177	0.91[ASN][1000 genomes]
rs62337117	0.83[ASN][1000 genomes]
rs62337119	0.89[ASN][1000 genomes]
rs6553794	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6553795	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6553796	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6813684	0.95[ASN][1000 genomes]
rs6814296	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7673142	0.95[ASN][1000 genomes]
rs930025	0.95[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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175368800-175374800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:175369200-175374800	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:175370600-175374200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:175371000-175378400	Weak transcription	Esophagus	oesophagus
5	chr4:175371400-175374200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:175371400-175374600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:175371400-175374600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:175371800-175374600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:175371800-175382600	Weak transcription	Small Intestine	intestine
10	chr4:175372000-175377200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:175372400-175374400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:175372400-175374600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:175372600-175374400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:175373000-175374000	Weak transcription	Stomach Mucosa	stomach
15	chr4:175373000-175374400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:175373000-175374400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:175373000-175374600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr4:175373200-175374200	Enhancers	Fetal Intestine Large	intestine
19	chr4:175373200-175374200	Enhancers	Fetal Intestine Small	intestine
20	chr4:175373400-175374000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:175373600-175374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:175373600-175375200	Enhancers	Fetal Stomach	stomach
23	chr4:175373800-175374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:175373800-175374000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr4:175373800-175374400	Flanking Active TSS	A549	lung
26	chr4:175373800-175376000	Weak transcription	Colon Smooth Muscle	Colon

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