Variant report

Variant	rs17094510
Chromosome Location	chr14:97301247-97301248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97300473..97303064-chr14:97305409..97307983,2	K562	blood:
2	chr14:97295418..97297368-chr14:97301033..97303820,2	K562	blood:
3	chr14:97299339..97301771-chr14:97302252..97306278,3	MCF-7	breast:
4	chr14:97293502..97295046-chr14:97299094..97301646,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131963	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10147248	0.94[EUR][1000 genomes]
rs17094552	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094594	0.85[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1957136	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs2145633	0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2145634	0.85[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28441262	0.82[ASN][1000 genomes]
rs4900343	0.84[ASN][1000 genomes]
rs55657801	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55696631	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116530	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56165690	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56225078	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57994017	1.00[ASN][1000 genomes]
rs7149464	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73355679	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7494297	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8016074	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022580	0.84[ASN][1000 genomes]
rs9323953	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635293	0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
3	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:97282800-97301800	Weak transcription	Thymus	Thymus
5	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:97287000-97301600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:97288200-97303200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:97288200-97314400	Weak transcription	Lung	lung
9	chr14:97289400-97302000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:97291600-97302000	Weak transcription	NHLF	lung
13	chr14:97293000-97309000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:97293400-97313800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
16	chr14:97293600-97306200	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:97293600-97323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:97293800-97313800	Weak transcription	Fetal Lung	lung
19	chr14:97294000-97314400	Weak transcription	Esophagus	oesophagus
20	chr14:97294000-97323000	Weak transcription	Gastric	stomach
21	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
22	chr14:97294600-97313800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:97296000-97307200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:97296200-97318400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:97296600-97302000	Weak transcription	HepG2	liver
26	chr14:97296800-97303200	Weak transcription	HUVEC	blood vessel
27	chr14:97297400-97301600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:97297400-97302600	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:97297400-97323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:97297600-97304600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:97297800-97302200	Weak transcription	Aorta	Aorta
34	chr14:97298000-97310400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:97298000-97313600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:97298200-97313800	Weak transcription	Left Ventricle	heart
37	chr14:97298400-97303000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:97298600-97313800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:97298800-97308600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:97298800-97309400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:97298800-97309600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:97298800-97348800	Strong transcription	Dnd41	blood
43	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:97299000-97303400	Strong transcription	Primary T cells from cord blood	blood
45	chr14:97299000-97304800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:97299000-97308000	Weak transcription	Small Intestine	intestine
47	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:97299200-97305600	Strong transcription	K562	blood
49	chr14:97299200-97315800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:97299200-97316200	Weak transcription	Pancreas	Pancrea

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