Variant report

Variant	rs6493131
Chromosome Location	chr15:45321129-45321130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45313440..45317462-chr15:45317525..45323259,9	K562	blood:

Variant related genes	Relation type
ENSG00000140263	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11070436	1.00[CEU][hapmap]
rs11070439	1.00[CEU][hapmap]
rs11635836	1.00[CEU][hapmap]
rs11636558	1.00[CEU][hapmap]
rs11637679	1.00[CEU][hapmap]
rs12441189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12902975	1.00[CEU][hapmap]
rs12913288	1.00[CEU][hapmap]
rs13380326	1.00[CEU][hapmap]
rs1704792	0.82[CEU][hapmap]
rs199138	0.82[CHB][hapmap]
rs2036831	1.00[CEU][hapmap]
rs2437866	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2470686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2554451	0.82[CHB][hapmap]
rs269863	0.82[CHB][hapmap]
rs269868	0.82[CHB][hapmap]
rs3759890	1.00[CEU][hapmap]
rs452762	1.00[CEU][hapmap]
rs925350	1.00[CEU][hapmap]
rs963002	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv977710	chr15:45316191-45360995	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv9259	chr15:45317368-45326350	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3401551	chr15:45317760-45325058	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3370250	chr15:45318060-45325358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1811585	chr15:45318399-45323951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820185	chr15:45318399-45323951	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv827314	chr15:45318708-45323951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv827315	chr15:45318832-45323951	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv827316	chr15:45318855-45323951	Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv827317	chr15:45318881-45323951	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv827318	chr15:45318881-45328666	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv820141	chr15:45318900-45326138	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv20125	chr15:45318919-45323774	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
20	esv1809051	chr15:45319651-45323951	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1809467	chr15:45319651-45323951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1818156	chr15:45319651-45323951	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1818197	chr15:45319651-45323951	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv569311	chr15:45321049-45323264	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316000-45321600	Weak transcription	Aorta	Aorta
2	chr15:45316200-45326200	Weak transcription	Psoas Muscle	Psoas
3	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45316400-45321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:45316400-45321400	Weak transcription	Primary T cells from cord blood	blood
6	chr15:45316400-45321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:45316400-45321600	Weak transcription	Right Atrium	heart
8	chr15:45316400-45321800	Weak transcription	Ovary	ovary
9	chr15:45316400-45323400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
11	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:45316400-45333000	Weak transcription	Lung	lung
13	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
15	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45316600-45321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:45316600-45321400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:45316600-45321400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:45316600-45321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:45316600-45321400	Weak transcription	Fetal Intestine Small	intestine
21	chr15:45316600-45321400	Weak transcription	Fetal Stomach	stomach
22	chr15:45316600-45321800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:45316600-45322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:45316600-45322800	Weak transcription	Colonic Mucosa	Colon
25	chr15:45316600-45323000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:45316600-45323000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:45316600-45324800	Weak transcription	Spleen	Spleen
28	chr15:45316600-45325400	Weak transcription	NHDF-Ad	bronchial
29	chr15:45316600-45326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
31	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
33	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:45316600-45329000	Weak transcription	Osteobl	bone
36	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45316600-45329200	Weak transcription	NHLF	lung
38	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
41	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:45316800-45321400	Weak transcription	NHEK	skin
49	chr15:45316800-45337600	Weak transcription	GM12878-XiMat	blood
50	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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