Variant report

Variant	rs3811569
Chromosome Location	chr2:153495666-153495667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153495600..153499231-chr2:153499718..153501941,4	MCF-7	breast:
2	chr2:153495009..153497280-chr2:153502746..153506564,3	K562	blood:
3	chr2:153495557..153498820-chr2:153502340..153505191,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10931263	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10931271	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10931279	0.85[CEU][hapmap]
rs1135617	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11674911	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11676069	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11694512	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11901227	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs12475871	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478681	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12693429	0.92[ASN][1000 genomes]
rs12989903	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12995388	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12999331	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13003670	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13006652	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13014141	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13017131	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13022436	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13023779	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13023975	0.86[EUR][1000 genomes]
rs1370499	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831440	0.86[EUR][1000 genomes]
rs16831456	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17328776	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17400456	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17400938	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17400952	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17400980	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2083097	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346551	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34199006	0.89[EUR][1000 genomes]
rs34454505	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34469468	0.87[EUR][1000 genomes]
rs34619076	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34775858	0.90[EUR][1000 genomes]
rs35002744	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35421285	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35754252	0.89[EUR][1000 genomes]
rs35894330	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35937874	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36107565	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36122595	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3811568	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575677	0.90[EUR][1000 genomes]
rs6434172	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66492085	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66849546	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6728189	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6736003	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71417232	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71417235	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72871148	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7591590	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7598878	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][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	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693437	chr2:153484685-153505003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
7	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
8	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
9	chr2:153469600-153496800	Weak transcription	HSMM	muscle
10	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:153473800-153496400	Weak transcription	Osteobl	bone
14	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
17	chr2:153479400-153496200	Weak transcription	NH-A	brain
18	chr2:153481200-153502200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:153481200-153502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:153481400-153502400	Strong transcription	Placenta	Placenta
21	chr2:153481400-153503000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:153484400-153496000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:153484400-153502600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:153484400-153503000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:153484400-153504200	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:153485200-153500000	Weak transcription	Hela-S3	cervix
27	chr2:153485400-153496800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:153486200-153496600	Weak transcription	HUVEC	blood vessel
29	chr2:153486200-153503000	Strong transcription	Fetal Stomach	stomach
30	chr2:153487600-153505000	Weak transcription	Fetal Thymus	thymus
31	chr2:153488600-153503200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:153489000-153496600	Weak transcription	Pancreas	Pancrea
33	chr2:153489600-153495800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:153489600-153496400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:153490600-153496600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:153491600-153502800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:153491600-153504000	Strong transcription	HepG2	liver
38	chr2:153492000-153508200	Weak transcription	Primary B cells from cord blood	blood
39	chr2:153492200-153502600	Strong transcription	Lung	lung
40	chr2:153492200-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:153492400-153502400	Strong transcription	NHEK	skin
42	chr2:153492400-153506200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:153492400-153513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:153492600-153496600	Weak transcription	Liver	Liver
45	chr2:153492600-153497800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153492600-153501400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:153492600-153501400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:153492600-153501800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:153492600-153502400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:153492600-153502400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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