Variant report

Variant	rs12147439
Chromosome Location	chr14:97040579-97040580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97040398..97040962-chr14:97100553..97101449,2	MCF-7	breast:
2	chr14:97040333..97042090-chr14:97100526..97101489,19	MCF-7	breast:
3	chr14:97039485..97041409-chr14:97041476..97043217,2	K562	blood:
4	chr14:97034631..97037578-chr14:97040490..97042712,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136277	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139164	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140247	0.86[EUR][1000 genomes]
rs10143834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144704	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10145194	0.83[JPT][hapmap]
rs10467873	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160344	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621778	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625090	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627288	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848720	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11848778	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147717	0.83[JPT][hapmap]
rs12586789	0.83[JPT][hapmap]
rs13329034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379390	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28600893	0.83[JPT][hapmap];0.85[TSI][hapmap]
rs28718054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28738720	0.85[EUR][1000 genomes]
rs2887550	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809425	0.83[JPT][hapmap]
rs4514608	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56184178	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56960368	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58112821	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60920648	0.86[EUR][1000 genomes]
rs61435932	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61570427	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66881740	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7142226	0.83[JPT][hapmap]
rs7142806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7146883	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7160148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs965950	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:97020200-97042600	Weak transcription	Esophagus	oesophagus
4	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
5	chr14:97020800-97040800	Weak transcription	Colonic Mucosa	Colon
6	chr14:97023200-97046400	Weak transcription	K562	blood
7	chr14:97023600-97041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart
9	chr14:97023800-97040600	Weak transcription	Pancreas	Pancrea
10	chr14:97023800-97040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:97023800-97042400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:97023800-97043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:97023800-97044800	Weak transcription	Lung	lung
14	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
15	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:97024000-97040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:97024000-97040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:97026200-97041000	Weak transcription	Brain Germinal Matrix	brain
20	chr14:97027600-97040600	Weak transcription	HSMMtube	muscle
21	chr14:97031600-97042400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:97032000-97040800	Weak transcription	Brain Anterior Caudate	brain
23	chr14:97032200-97043000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:97032200-97047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:97032400-97041800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:97032400-97042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:97032600-97040600	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:97032600-97040600	Weak transcription	Ovary	ovary
29	chr14:97032600-97044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:97033400-97042600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:97033400-97043600	Weak transcription	Placenta	Placenta
32	chr14:97033600-97040800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:97034200-97042200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:97034200-97042400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:97034200-97043000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:97034400-97042800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:97035200-97041400	Weak transcription	Dnd41	blood
38	chr14:97035200-97042400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:97035400-97043000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:97037000-97046600	Weak transcription	Fetal Brain Female	brain
41	chr14:97037000-97047200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:97037000-97047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:97037200-97042800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:97038400-97041200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:97038600-97042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:97038800-97040600	Strong transcription	Left Ventricle	heart
47	chr14:97038800-97043200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:97039000-97041000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:97039000-97042000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:97039200-97040600	Enhancers	HUES6 Cell Line	embryonic stem cell

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