Variant report

Variant	rs12590169
Chromosome Location	chr14:97314173-97314174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97295429..97297910-chr14:97313409..97315091,2	K562	blood:
2	chr14:97050419..97051179-chr14:97313148..97314310,4	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10145383	1.00[CHB][hapmap]
rs10146571	0.90[CHB][hapmap]
rs11160369	0.91[CHB][hapmap]
rs11160377	0.92[ASN][1000 genomes]
rs11627455	0.92[ASN][1000 genomes]
rs11628733	0.91[CHB][hapmap]
rs12101203	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433112	1.00[CHB][hapmap]
rs12586511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589919	0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878184	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs12881995	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882038	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882853	0.90[CHB][hapmap]
rs12887093	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889255	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892609	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893513	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12893711	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12894533	0.95[ASN][1000 genomes]
rs12894621	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12897588	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17191471	0.84[JPT][hapmap]
rs1957135	0.83[CHD][hapmap]
rs2145635	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145636	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2180897	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224442	0.91[CHB][hapmap]
rs2224443	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2230532	1.00[CHB][hapmap]
rs4270096	1.00[CHB][hapmap]
rs4900346	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900348	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900350	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4900351	0.90[CHB][hapmap]
rs4900352	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4900353	0.90[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4905548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905550	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905551	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905558	0.81[CHB][hapmap]
rs4905561	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905562	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4905563	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4905567	0.92[ASN][1000 genomes]
rs7156355	1.00[CHB][hapmap]
rs723810	1.00[CHB][hapmap]
rs736929	0.90[CHB][hapmap]
rs749279	0.90[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs764300	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013081	1.00[CHB][hapmap]
rs8022152	0.92[ASN][1000 genomes]
rs9323955	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	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
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97288200-97314400	Weak transcription	Lung	lung
3	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
6	chr14:97293600-97323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:97294000-97314400	Weak transcription	Esophagus	oesophagus
8	chr14:97294000-97323000	Weak transcription	Gastric	stomach
9	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
10	chr14:97296200-97318400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:97297400-97323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:97298800-97348800	Strong transcription	Dnd41	blood
15	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:97299200-97315800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:97299200-97316200	Weak transcription	Pancreas	Pancrea
19	chr14:97299200-97318400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:97299200-97329600	Weak transcription	Osteobl	bone
21	chr14:97299400-97329600	Weak transcription	NHEK	skin
22	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:97299600-97314400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:97300200-97319000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:97300200-97323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:97300400-97321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:97300600-97322600	Weak transcription	Fetal Kidney	kidney
28	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:97303400-97314400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:97303400-97326600	Weak transcription	NHLF	lung
32	chr14:97303400-97371600	Weak transcription	Ovary	ovary
33	chr14:97303600-97314200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:97303600-97315000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:97303600-97315600	Weak transcription	A549	lung
36	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:97305400-97321400	Weak transcription	HSMM	muscle
38	chr14:97305800-97321600	Weak transcription	Hela-S3	cervix
39	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
40	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:97309800-97326600	Weak transcription	Placenta	Placenta
43	chr14:97310800-97325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:97311600-97325800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:97311800-97316400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:97311800-97319000	Strong transcription	Primary B cells from cord blood	blood
47	chr14:97312200-97316200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:97312400-97315000	Strong transcription	HMEC	breast
49	chr14:97312400-97315600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:97312400-97316200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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