Variant report

Variant	rs2137331
Chromosome Location	chr4:149280696-149280697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11724226	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12711260	0.83[AMR][1000 genomes]
rs13109808	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13109933	1.00[JPT][hapmap]
rs13112423	1.00[JPT][hapmap]
rs13127625	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13137655	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13144019	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1512325	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1512327	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1512341	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs1858416	0.96[YRI][hapmap]
rs6831212	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6850820	0.94[JPT][hapmap]
rs7696770	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs992556	0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031815	chr4:149172485-149282928	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1028105	chr4:149199913-149284620	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537297	chr4:149199913-149284620	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1019350	chr4:149232430-149282117	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3584816	chr4:149254670-149293317	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149267800-149282000	Weak transcription	Right Ventricle	heart
2	chr4:149268200-149288000	Weak transcription	Small Intestine	intestine
3	chr4:149272000-149282000	Weak transcription	Psoas Muscle	Psoas
4	chr4:149277000-149282600	Weak transcription	Right Atrium	heart
5	chr4:149277000-149291000	Weak transcription	Left Ventricle	heart
6	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
8	chr4:149277200-149280800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:149277200-149280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:149277200-149280800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:149277200-149280800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:149277200-149281000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:149277200-149282000	Weak transcription	Gastric	stomach
14	chr4:149277200-149283800	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:149277600-149282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:149278000-149280800	Weak transcription	HUVEC	blood vessel
17	chr4:149280200-149281600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:149280200-149281800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:149280200-149283000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:149280400-149281400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:149280400-149282200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:149280400-149282200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:149280400-149282400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:149280600-149281200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:149280600-149282800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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