Variant report

Variant	rs12591178
Chromosome Location	chr15:44717594-44717595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44674181..44676932-chr15:44716918..44719048,2	K562	blood:
2	chr15:44673967..44676346-chr15:44716009..44718980,2	K562	blood:
3	chr15:44704582..44707025-chr15:44716948..44718913,2	K562	blood:
4	chr15:44694836..44697659-chr15:44716673..44718460,2	K562	blood:

Variant related genes	Relation type
ENSG00000166734	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10152710	0.94[EUR][1000 genomes]
rs10162700	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs1021800	0.94[EUR][1000 genomes]
rs10467977	1.00[EUR][1000 genomes]
rs12324710	0.82[JPT][hapmap]
rs12591581	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12592995	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12593125	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593943	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12594110	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12594167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594621	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12594645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12594746	1.00[EUR][1000 genomes]
rs12594905	0.92[JPT][hapmap]
rs12595484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12595838	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs16964045	0.82[YRI][hapmap]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2288340	0.83[YRI][hapmap]
rs2288341	0.94[EUR][1000 genomes]
rs2288342	1.00[EUR][1000 genomes]
rs2303577	0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	1.00[EUR][1000 genomes]
rs2412909	1.00[EUR][1000 genomes]
rs2433350	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2555353	0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs2556566	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2556567	0.94[EUR][1000 genomes]
rs28508235	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28561508	1.00[EUR][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3752690	1.00[YRI][hapmap]
rs3784565	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3784566	1.00[YRI][hapmap]
rs3784567	1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs3809471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816928	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3986142	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3986143	0.92[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4415978	1.00[EUR][1000 genomes]
rs4477677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924746	0.85[ASN][1000 genomes]
rs57270586	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58956090	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59230801	1.00[EUR][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	1.00[EUR][1000 genomes]
rs60399672	1.00[EUR][1000 genomes]
rs61185650	1.00[EUR][1000 genomes]
rs61234123	1.00[EUR][1000 genomes]
rs61258861	1.00[EUR][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61501839	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6493103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7162671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7164709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7166278	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7166945	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7167752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7169333	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7170248	1.00[EUR][1000 genomes]
rs7172106	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7175200	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7178318	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7179390	0.92[JPT][hapmap]
rs7179894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7181772	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7183109	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8023453	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8024623	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8024805	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8025876	1.00[EUR][1000 genomes]
rs8025955	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8026945	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs8027036	1.00[EUR][1000 genomes]
rs8028509	1.00[EUR][1000 genomes]
rs8028907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8032079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8037395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs883943	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9672237	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9673085	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9806511	0.90[JPT][hapmap]
rs9806725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44655800-44718400	Weak transcription	Fetal Brain Female	brain
2	chr15:44657000-44719000	Weak transcription	Spleen	Spleen
3	chr15:44661400-44718400	Weak transcription	Fetal Brain Male	brain
4	chr15:44661400-44718600	Weak transcription	Fetal Lung	lung
5	chr15:44661800-44718200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:44663000-44717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:44663400-44718800	Weak transcription	Aorta	Aorta
8	chr15:44667000-44718000	Weak transcription	Thymus	Thymus
9	chr15:44667200-44719000	Weak transcription	Lung	lung
10	chr15:44673800-44718200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:44673800-44718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:44677800-44718400	Weak transcription	HSMM	muscle
13	chr15:44678000-44718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:44678000-44718200	Weak transcription	NHDF-Ad	bronchial
15	chr15:44678200-44718200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:44678200-44718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:44679400-44718800	Weak transcription	Ovary	ovary
18	chr15:44681000-44718000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:44682200-44718200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:44682200-44718200	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:44682600-44718400	Weak transcription	Osteobl	bone
22	chr15:44683200-44718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:44684600-44718000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:44686600-44718200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:44686800-44718600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:44687000-44718200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:44688400-44718200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:44690800-44718200	Weak transcription	Hela-S3	cervix
29	chr15:44691000-44718000	Weak transcription	Primary T cells from cord blood	blood
30	chr15:44694800-44717800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:44695400-44717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:44695600-44718200	Weak transcription	Fetal Stomach	stomach
33	chr15:44695600-44718400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:44695800-44718400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:44697800-44718200	Weak transcription	Brain Anterior Caudate	brain
36	chr15:44701800-44718200	Weak transcription	A549	lung
37	chr15:44702600-44717600	Weak transcription	Fetal Thymus	thymus
38	chr15:44704000-44718200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:44706600-44718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:44706600-44718000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:44709800-44718400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:44710000-44717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:44710000-44718200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:44710000-44718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:44712600-44717800	Weak transcription	HepG2	liver
46	chr15:44716600-44717600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:44717400-44718000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:44717400-44718000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr15:44717400-44718200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:44717400-44718200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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