Variant report

Variant	rs2185136
Chromosome Location	chr1:62294430-62294431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62294253..62296248-chr1:62299623..62302341,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12022830	0.82[AMR][1000 genomes]
rs12029243	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12045057	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1286816	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17371638	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17380420	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2275859	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2365734	1.00[YRI][hapmap]
rs2788614	0.91[ASN][1000 genomes]
rs2788616	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2799629	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs36125117	1.00[YRI][hapmap]
rs58052322	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58932514	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7515512	1.00[JPT][hapmap]
rs7554677	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1099	chr1:62275317-62315943	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62220200-62310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:62227800-62294600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
4	chr1:62247600-62297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:62250000-62302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:62251200-62306400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:62253600-62297400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:62255600-62302400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:62263800-62303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
11	chr1:62264600-62296000	Weak transcription	Fetal Brain Female	brain
12	chr1:62264600-62297400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:62264600-62321600	Weak transcription	Pancreas	Pancrea
14	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:62275000-62301600	Weak transcription	Ovary	ovary
17	chr1:62278200-62316400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:62281200-62295200	Weak transcription	Right Ventricle	heart
19	chr1:62282800-62303600	Weak transcription	Hela-S3	cervix
20	chr1:62283400-62296600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:62283400-62301200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:62283800-62298200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:62283800-62300400	Strong transcription	Liver	Liver
24	chr1:62283800-62302600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:62284000-62295800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:62285200-62294600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:62285600-62294600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
29	chr1:62286200-62297800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:62287000-62297800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:62287200-62296000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:62287400-62295800	Strong transcription	Primary T cells from cord blood	blood
33	chr1:62287400-62296000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:62287400-62296600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:62287400-62297400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:62287600-62301600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:62287800-62296200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:62287800-62302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:62288200-62297800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:62289000-62299000	Weak transcription	Primary B cells from cord blood	blood
41	chr1:62289200-62297400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:62289400-62305400	Weak transcription	A549	lung
43	chr1:62289600-62296400	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:62290000-62304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:62290200-62295200	Strong transcription	NHEK	skin
46	chr1:62290600-62296000	Weak transcription	Lung	lung
47	chr1:62290600-62308600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:62290800-62326000	Weak transcription	Left Ventricle	heart
49	chr1:62291400-62305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:62291600-62305000	Weak transcription	Fetal Heart	heart

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