Variant report

Variant	rs2137338
Chromosome Location	chr4:149292464-149292465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10033040	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12711259	0.82[CHB][hapmap]
rs1546044	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs17024708	0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs17581815	1.00[JPT][hapmap]
rs17581975	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358392	0.86[ASN][1000 genomes]
rs2358393	0.87[ASN][1000 genomes]
rs4293768	0.87[ASN][1000 genomes]
rs4513547	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs61756942	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61756945	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61763774	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61764776	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61764785	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6849903	0.84[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6850820	0.86[CHB][hapmap]
rs72729957	0.87[ASN][1000 genomes]
rs72729960	0.87[ASN][1000 genomes]
rs72729961	0.87[ASN][1000 genomes]
rs72729962	0.87[ASN][1000 genomes]
rs72729966	0.87[ASN][1000 genomes]
rs72729971	0.94[ASN][1000 genomes]
rs72729972	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72729980	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72729985	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855952	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691663	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7698302	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs907618	0.84[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs907620	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2137338	ARHGAP10	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
3	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:149282800-149296800	Weak transcription	Psoas Muscle	Psoas
5	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149283200-149293400	Weak transcription	Right Atrium	heart
7	chr4:149288400-149297000	Weak transcription	Fetal Heart	heart
8	chr4:149289400-149293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:149289400-149294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:149289400-149294200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:149289600-149294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:149289600-149297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:149290200-149297200	Weak transcription	Aorta	Aorta
14	chr4:149290400-149296800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:149291200-149296800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:149291400-149297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:149291400-149297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:149291600-149296800	Weak transcription	HepG2	liver
19	chr4:149292000-149296600	Weak transcription	HUVEC	blood vessel
20	chr4:149292200-149298600	Weak transcription	Left Ventricle	heart
21	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle

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