Variant report

Variant	rs962947
Chromosome Location	chr12:21797827-21797828
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21784249..21785911-chr12:21797410..21799380,2	K562	blood:
2	chr12:21789441..21791816-chr12:21797717..21800629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111716	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1012354	1.00[EUR][1000 genomes]
rs1030452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1030453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1072993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10841863	1.00[EUR][1000 genomes]
rs10841864	1.00[EUR][1000 genomes]
rs10841865	1.00[EUR][1000 genomes]
rs10841866	1.00[EUR][1000 genomes]
rs11829561	1.00[EUR][1000 genomes]
rs11835091	1.00[EUR][1000 genomes]
rs1427830	1.00[EUR][1000 genomes]
rs1478293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1540405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613889	0.92[AFR][1000 genomes]
rs1614040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1624003	1.00[EUR][1000 genomes]
rs1626167	1.00[EUR][1000 genomes]
rs1626303	1.00[EUR][1000 genomes]
rs1629683	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1630514	1.00[EUR][1000 genomes]
rs1650272	1.00[EUR][1000 genomes]
rs1650277	1.00[EUR][1000 genomes]
rs1650278	1.00[EUR][1000 genomes]
rs1650279	1.00[EUR][1000 genomes]
rs1650280	1.00[EUR][1000 genomes]
rs1650282	1.00[EUR][1000 genomes]
rs1650285	1.00[EUR][1000 genomes]
rs1650286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650288	1.00[EUR][1000 genomes]
rs1650289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650292	1.00[EUR][1000 genomes]
rs1650293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650297	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1650300	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677073	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677074	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677088	1.00[EUR][1000 genomes]
rs1677090	1.00[EUR][1000 genomes]
rs1677092	1.00[EUR][1000 genomes]
rs1677093	1.00[EUR][1000 genomes]
rs1677094	1.00[EUR][1000 genomes]
rs1677095	1.00[EUR][1000 genomes]
rs1677096	1.00[EUR][1000 genomes]
rs1677097	1.00[EUR][1000 genomes]
rs1677098	1.00[EUR][1000 genomes]
rs1677100	1.00[EUR][1000 genomes]
rs1677104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677110	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677113	1.00[EUR][1000 genomes]
rs1677118	1.00[EUR][1000 genomes]
rs1677124	1.00[EUR][1000 genomes]
rs1677125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677135	1.00[EUR][1000 genomes]
rs1677136	1.00[EUR][1000 genomes]
rs1677138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677139	1.00[EUR][1000 genomes]
rs1677141	1.00[EUR][1000 genomes]
rs1813751	1.00[EUR][1000 genomes]
rs2077044	1.00[EUR][1000 genomes]
rs2217238	1.00[EUR][1000 genomes]
rs2247376	1.00[AFR][1000 genomes]
rs255449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs255452	1.00[EUR][1000 genomes]
rs2617117	1.00[EUR][1000 genomes]
rs4237915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337087	0.89[AFR][1000 genomes]
rs4438091	1.00[EUR][1000 genomes]
rs4762714	1.00[EUR][1000 genomes]
rs4762716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762856	1.00[EUR][1000 genomes]
rs4762858	1.00[EUR][1000 genomes]
rs4762859	1.00[EUR][1000 genomes]
rs4762862	1.00[EUR][1000 genomes]
rs56013787	1.00[EUR][1000 genomes]
rs56035640	1.00[EUR][1000 genomes]
rs56066637	1.00[EUR][1000 genomes]
rs56160727	1.00[EUR][1000 genomes]
rs56271252	1.00[EUR][1000 genomes]
rs56729740	1.00[EUR][1000 genomes]
rs56871137	1.00[EUR][1000 genomes]
rs56994698	1.00[EUR][1000 genomes]
rs57115374	1.00[EUR][1000 genomes]
rs57200111	1.00[EUR][1000 genomes]
rs57338327	1.00[EUR][1000 genomes]
rs57842305	1.00[EUR][1000 genomes]
rs58465040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58527132	1.00[EUR][1000 genomes]
rs59247664	1.00[EUR][1000 genomes]
rs59468844	1.00[EUR][1000 genomes]
rs59541120	1.00[EUR][1000 genomes]
rs60486179	1.00[EUR][1000 genomes]
rs60632805	1.00[EUR][1000 genomes]
rs60652753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299674	1.00[EUR][1000 genomes]
rs7299680	1.00[EUR][1000 genomes]
rs7300051	1.00[EUR][1000 genomes]
rs73249228	1.00[EUR][1000 genomes]
rs73249231	1.00[EUR][1000 genomes]
rs73249234	1.00[EUR][1000 genomes]
rs73249241	1.00[EUR][1000 genomes]
rs73249265	1.00[EUR][1000 genomes]
rs73249266	1.00[EUR][1000 genomes]
rs73249268	1.00[EUR][1000 genomes]
rs73249276	1.00[EUR][1000 genomes]
rs73249282	1.00[EUR][1000 genomes]
rs73262386	1.00[EUR][1000 genomes]
rs736047	1.00[EUR][1000 genomes]
rs74066770	1.00[EUR][1000 genomes]
rs74067628	1.00[EUR][1000 genomes]
rs74069327	1.00[EUR][1000 genomes]
rs74069332	1.00[EUR][1000 genomes]
rs74069333	1.00[EUR][1000 genomes]
rs74069343	1.00[EUR][1000 genomes]
rs74069345	1.00[EUR][1000 genomes]
rs74069349	1.00[EUR][1000 genomes]
rs74069350	1.00[EUR][1000 genomes]
rs74069351	1.00[EUR][1000 genomes]
rs74069352	1.00[EUR][1000 genomes]
rs74069353	1.00[EUR][1000 genomes]
rs74069354	1.00[EUR][1000 genomes]
rs74069355	1.00[EUR][1000 genomes]
rs74069356	1.00[EUR][1000 genomes]
rs74069357	1.00[EUR][1000 genomes]
rs74069362	1.00[EUR][1000 genomes]
rs74069363	1.00[EUR][1000 genomes]
rs759931	1.00[EUR][1000 genomes]
rs759932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs759933	1.00[EUR][1000 genomes]
rs759934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953451	0.90[AFR][1000 genomes]
rs7974267	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
2	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
3	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:21785000-21801400	Strong transcription	Dnd41	blood
5	chr12:21785200-21798600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
7	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:21786400-21807800	Strong transcription	Osteobl	bone
10	chr12:21786800-21799200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:21787200-21798400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:21787200-21806800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:21787200-21807400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:21787200-21807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:21787200-21808200	Strong transcription	NH-A	brain
22	chr12:21787200-21808600	Strong transcription	HMEC	breast
23	chr12:21787200-21808600	Strong transcription	HSMM	muscle
24	chr12:21787400-21803800	Strong transcription	HUVEC	blood vessel
25	chr12:21787800-21801800	Strong transcription	NHDF-Ad	bronchial
26	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:21788600-21810000	Weak transcription	Liver	Liver
28	chr12:21788800-21798000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:21788800-21798000	Weak transcription	Spleen	Spleen
30	chr12:21788800-21798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:21788800-21798400	Weak transcription	Gastric	stomach
32	chr12:21788800-21801400	Weak transcription	Right Ventricle	heart
33	chr12:21788800-21803800	Weak transcription	Esophagus	oesophagus
34	chr12:21788800-21803800	Weak transcription	Pancreas	Pancrea
35	chr12:21789000-21798200	Weak transcription	Lung	lung
36	chr12:21790000-21808200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:21790200-21806000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:21791000-21807600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:21791600-21807600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:21791800-21809400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:21792000-21798600	Weak transcription	Fetal Intestine Small	intestine
42	chr12:21792000-21807200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:21792400-21807200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:21792600-21800400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:21793200-21807800	Strong transcription	Fetal Thymus	thymus
46	chr12:21793400-21798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:21793400-21800400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:21793400-21805600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:21793600-21799200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:21793600-21800200	Strong transcription	Brain Anterior Caudate	brain

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