Variant report

Variant	rs17094594
Chromosome Location	chr14:97353336-97353337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97342981..97345508-chr14:97352791..97354634,2	MCF-7	breast:
2	chr14:97347013..97350002-chr14:97352064..97354916,2	K562	blood:
3	chr14:97352755..97355141-chr14:97359581..97361820,2	K562	blood:
4	chr14:97352755..97357017-chr14:97358100..97363870,8	K562	blood:
5	chr14:97349904..97353834-chr14:97354372..97357371,3	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147248	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094552	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs7149464	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355679	0.89[EUR][1000 genomes]
rs7494297	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.94[EUR][1000 genomes]
rs9635293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:97303400-97371600	Weak transcription	Ovary	ovary
5	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
7	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
10	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
11	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:97331000-97378400	Weak transcription	A549	lung
13	chr14:97337400-97354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
15	chr14:97341000-97354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:97342800-97354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:97342800-97367000	Weak transcription	NHEK	skin
19	chr14:97343200-97354600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:97345200-97353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:97347000-97354600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:97347000-97368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:97347200-97353800	Weak transcription	Fetal Thymus	thymus
24	chr14:97347200-97354600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:97348200-97354200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:97348200-97361400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:97348600-97356000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:97349000-97354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:97349200-97353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:97349200-97355000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:97349200-97359200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:97349200-97367200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:97349200-97367600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:97349200-97377400	Weak transcription	Primary T cells from cord blood	blood
35	chr14:97349400-97354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:97349400-97354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:97349400-97354600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:97349400-97354800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:97349400-97355000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:97349400-97356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:97349400-97359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:97349400-97369200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:97351400-97353400	Weak transcription	Dnd41	blood
44	chr14:97352200-97353400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:97352200-97353400	Weak transcription	GM12878-XiMat	blood
46	chr14:97353200-97355200	Enhancers	K562	blood

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