Variant report

Variant	rs2235194
Chromosome Location	chr1:171109036-171109037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10911664	0.99[ASN][1000 genomes]
rs10911683	0.83[ASN][1000 genomes]
rs1157459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080672	0.94[ASN][1000 genomes]
rs12086786	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12089338	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16864094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800822	0.81[ASN][1000 genomes]
rs1983550	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2281002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2281004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363533	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363535	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363560	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363597	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140653	0.83[EUR][1000 genomes]
rs56672667	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56809838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60447684	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61420043	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66880604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66963071	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67495591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68071659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742057	0.97[ASN][1000 genomes]
rs742058	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909529	0.81[ASN][1000 genomes]
rs9970391	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9970392	0.94[ASN][1000 genomes]
rs9970495	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171105400-171111200	Weak transcription	Aorta	Aorta
2	chr1:171105800-171110400	Enhancers	Fetal Lung	lung
3	chr1:171106400-171110400	Enhancers	Adipose Nuclei	Adipose
4	chr1:171107000-171110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:171107200-171110200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:171107200-171110800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:171107200-171111200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:171107200-171111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:171107200-171111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:171107200-171111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:171107400-171109200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:171107800-171110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:171107800-171112400	Enhancers	Fetal Muscle Leg	muscle
14	chr1:171108000-171112600	Weak transcription	Small Intestine	intestine
15	chr1:171108400-171112800	Enhancers	NHLF	lung
16	chr1:171108600-171109200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:171108800-171109200	Enhancers	Psoas Muscle	Psoas
18	chr1:171108800-171110200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:171108800-171111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:171108800-171112400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:171108800-171112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:171109000-171109200	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:171109000-171109400	Enhancers	Left Ventricle	heart
24	chr1:171109000-171109400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:171109000-171109400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:171109000-171110000	Enhancers	Ovary	ovary
27	chr1:171109000-171110000	Enhancers	Right Ventricle	heart
28	chr1:171109000-171110200	Enhancers	Right Atrium	heart
29	chr1:171109000-171111200	Enhancers	Fetal Intestine Small	intestine
30	chr1:171109000-171112200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:171109000-171112200	Enhancers	Stomach Mucosa	stomach

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