Variant report

Variant	rs17014962
Chromosome Location	chr4:89959271-89959272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89958290..89961976-chr4:89962319..89966068,4	K562	blood:
2	chr4:89958647..89961976-chr4:89962746..89966068,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10516824	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16996151	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014896	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014898	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014901	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17014931	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014934	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17014939	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014952	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014954	1.00[AFR][1000 genomes]
rs17014966	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014977	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014983	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17015012	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs56749689	1.00[AFR][1000 genomes]
rs60843670	1.00[AFR][1000 genomes]
rs61049728	1.00[AFR][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89940400-89961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
4	chr4:89945600-89963000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:89946200-89972800	Weak transcription	A549	lung
6	chr4:89956600-89959400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:89957800-89959400	ZNF genes & repeats	Fetal Stomach	stomach
8	chr4:89958000-89972200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:89958200-89974400	Weak transcription	Aorta	Aorta
10	chr4:89958400-89959400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:89958400-89959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:89958400-89961600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:89958400-89962000	Weak transcription	Lung	lung
14	chr4:89958400-89965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:89958400-89970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:89958400-89971400	Weak transcription	Ovary	ovary
17	chr4:89958800-89960600	Weak transcription	Fetal Lung	lung
18	chr4:89959000-89962400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:89959000-89972200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:89959000-89972400	Weak transcription	Fetal Intestine Small	intestine
21	chr4:89959000-89972600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:89959000-89975400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:89959200-89964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:89959200-89965000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:89959200-89965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:89959200-89974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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