Variant report

Variant	rs334159
Chromosome Location	chr2:128243462-128243463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128241495..128243616-chr2:128253341..128255366,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10177052	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1019842	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496661	1.00[ASN][1000 genomes]
rs10803587	1.00[CHB][hapmap]
rs10803589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11679414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs12621149	0.80[CEU][hapmap]
rs13030463	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1549767	0.81[CEU][hapmap]
rs1568278	1.00[ASN][1000 genomes]
rs17261845	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17261859	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1820969	1.00[ASN][1000 genomes]
rs1864552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864554	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2099210	0.91[EUR][1000 genomes]
rs2163345	1.00[ASN][1000 genomes]
rs2163348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs334137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334138	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334158	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893897	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs4150400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150402	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150471	1.00[ASN][1000 genomes]
rs4662719	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs4662736	1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6709113	0.85[CEU][hapmap]
rs6722447	0.81[CEU][hapmap]
rs6756535	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7556675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7582598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592490	0.88[EUR][1000 genomes]
rs7607907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287540	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
3	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
4	chr2:128235200-128270000	Strong transcription	Dnd41	blood
5	chr2:128237200-128244000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:128237600-128243600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:128237600-128243800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:128237600-128243800	Strong transcription	Osteobl	bone
11	chr2:128237600-128244000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:128237600-128244600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:128237600-128244800	Strong transcription	Esophagus	oesophagus
14	chr2:128237600-128246600	Strong transcription	Fetal Stomach	stomach
15	chr2:128237600-128247200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:128237600-128247600	Strong transcription	Thymus	Thymus
17	chr2:128237600-128248000	Strong transcription	Fetal Intestine Large	intestine
18	chr2:128237600-128251400	Strong transcription	Rectal Smooth Muscle	rectum
19	chr2:128237600-128252200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:128237600-128252200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:128237600-128256200	Strong transcription	HepG2	liver
26	chr2:128237600-128263200	Strong transcription	Adipose Nuclei	Adipose
27	chr2:128237600-128263200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:128237600-128263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:128237600-128263400	Strong transcription	Fetal Thymus	thymus
30	chr2:128237800-128248600	Strong transcription	Colonic Mucosa	Colon
31	chr2:128237800-128252400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:128237800-128252400	Strong transcription	Left Ventricle	heart
33	chr2:128237800-128252400	Strong transcription	GM12878-XiMat	blood
34	chr2:128237800-128254400	Strong transcription	Brain Substantia Nigra	brain
35	chr2:128237800-128254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:128237800-128255800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:128237800-128263200	Strong transcription	Liver	Liver
38	chr2:128237800-128263200	Strong transcription	HUVEC	blood vessel
39	chr2:128237800-128263400	Strong transcription	Placenta	Placenta
40	chr2:128238400-128244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:128238400-128255200	Strong transcription	K562	blood
42	chr2:128238400-128262400	Strong transcription	NH-A	brain
43	chr2:128238800-128248200	Strong transcription	Ovary	ovary
44	chr2:128238800-128260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:128239000-128244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:128239000-128246400	Strong transcription	Fetal Intestine Small	intestine
47	chr2:128239200-128263400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:128239400-128248200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:128239400-128252400	Strong transcription	H9 Cell Line	embryonic stem cell

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