Variant report

Variant	rs10495257
Chromosome Location	chr1:227312132-227312133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11582863	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11583489	0.82[CEU][hapmap]
rs12118840	1.00[JPT][hapmap]
rs12403775	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1319103	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13376552	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1929855	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2813956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34111989	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3768420	0.81[CEU][hapmap]
rs3768437	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4146588	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4653822	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6426578	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6426584	1.00[JPT][hapmap]
rs66796195	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72748174	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750169	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72750202	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72753628	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7355000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7531992	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7540155	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7540391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7553837	0.85[CEU][hapmap]
rs7553990	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs938257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
4	chr1:227272800-227331000	Weak transcription	Lung	lung
5	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:227285600-227313800	Weak transcription	Gastric	stomach
8	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
10	chr1:227288000-227326400	Weak transcription	A549	lung
11	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
18	chr1:227288600-227332400	Weak transcription	NHLF	lung
19	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
20	chr1:227288800-227317200	Weak transcription	NHEK	skin
21	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
22	chr1:227295200-227316000	Weak transcription	Fetal Kidney	kidney
23	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:227295400-227313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:227296400-227326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:227296600-227316400	Weak transcription	HSMMtube	muscle
27	chr1:227296600-227326200	Weak transcription	Fetal Lung	lung
28	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
29	chr1:227299200-227318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:227299800-227313800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:227299800-227319600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:227300000-227312600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:227300000-227315800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:227300000-227316200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:227300000-227316400	Weak transcription	Osteobl	bone
37	chr1:227300000-227321800	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:227300000-227325800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:227300000-227326400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:227300000-227328600	Weak transcription	Fetal Brain Female	brain
41	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
42	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:227300200-227312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:227300200-227315200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:227300200-227315600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:227300200-227315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:227300200-227316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:227300200-227316200	Weak transcription	HepG2	liver
50	chr1:227300200-227322000	Weak transcription	Muscle Satellite Cultured Cells	--

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