Variant report

Variant	rs34441132
Chromosome Location	chr2:110359387-110359388
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	chr2:110358096..110360702-chr2:110361302..110363804,2	K562	blood:

Variant related genes	Relation type
ENSG00000230696	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10195867	1.00[ASN][1000 genomes]
rs1036317	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	1.00[ASN][1000 genomes]
rs13412327	1.00[ASN][1000 genomes]
rs1811388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28441405	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28445980	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28464093	1.00[ASN][1000 genomes]
rs28553892	1.00[ASN][1000 genomes]
rs28570680	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.96[ASN][1000 genomes]
rs28612440	0.84[EUR][1000 genomes]
rs28696274	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28719680	0.83[EUR][1000 genomes]
rs3213866	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34269507	1.00[ASN][1000 genomes]
rs34311530	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35550721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35955221	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	1.00[ASN][1000 genomes]
rs4953729	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4953848	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4953849	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4953853	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55794045	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56265736	0.82[EUR][1000 genomes]
rs56794190	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594053	0.84[EUR][1000 genomes]
rs6594054	0.83[EUR][1000 genomes]
rs6709945	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6751785	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6760577	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72824788	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.96[ASN][1000 genomes]
rs72824796	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	1.00[ASN][1000 genomes]
rs72824802	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72826816	0.82[EUR][1000 genomes]
rs72826817	0.83[EUR][1000 genomes]
rs753492	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9752531	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	0.86[AMR][1000 genomes];1.00[ASN][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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
4	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
5	chr2:110324600-110362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:110329000-110369000	Weak transcription	Ovary	ovary
7	chr2:110329200-110359400	Weak transcription	NHLF	lung
8	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:110329400-110359600	Weak transcription	NHDF-Ad	bronchial
10	chr2:110341600-110359400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:110343400-110362200	Weak transcription	Psoas Muscle	Psoas
12	chr2:110343400-110362200	Weak transcription	Osteobl	bone
13	chr2:110343600-110364400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:110344400-110365800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:110344600-110362200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:110348600-110359400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:110349400-110362200	Weak transcription	Lung	lung
18	chr2:110349400-110364600	Weak transcription	HSMM	muscle
19	chr2:110349800-110359400	Weak transcription	Hela-S3	cervix
20	chr2:110349800-110362200	Weak transcription	A549	lung
21	chr2:110350200-110365800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:110350200-110367000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:110350400-110362200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:110350400-110363600	Weak transcription	Placenta	Placenta
25	chr2:110350400-110369200	Weak transcription	Fetal Stomach	stomach
26	chr2:110352000-110362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:110352400-110362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:110352400-110362200	Weak transcription	HMEC	breast
29	chr2:110352400-110364400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:110352600-110359600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:110352600-110362200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:110352600-110369200	Weak transcription	Fetal Brain Female	brain
33	chr2:110352800-110364800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:110352800-110369400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:110353200-110359400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:110353600-110359400	Weak transcription	NH-A	brain
37	chr2:110353600-110359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:110353600-110363800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:110353800-110362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:110353800-110363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:110353800-110365400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:110354800-110362200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:110355200-110359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:110355200-110359400	Weak transcription	Fetal Lung	lung
45	chr2:110355200-110365800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:110355600-110362200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:110355600-110362200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:110357600-110359400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:110357600-110359600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:110357600-110360000	Enhancers	HUES48 Cell Line	embryonic stem cell

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