Variant report

Variant	rs17792118
Chromosome Location	chr6:114261596-114261597
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114260142..114261684-chr6:114265096..114267766,2	K562	blood:
2	chr6:114260434..114263162-chr6:114272567..114274765,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11758632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2169506	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2475623	1.00[CHB][hapmap]
rs2475624	1.00[CHB][hapmap]
rs2499612	1.00[CHB][hapmap]
rs35598148	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62415876	0.87[ASN][1000 genomes]
rs62415904	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415909	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415915	1.00[ASN][1000 genomes]
rs62415916	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415923	1.00[ASN][1000 genomes]
rs73548638	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744487	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488293	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488294	0.91[AMR][1000 genomes];0.93[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114242400-114265400	Weak transcription	Thymus	Thymus
2	chr6:114248600-114265400	Weak transcription	Fetal Heart	heart
3	chr6:114252400-114265200	Weak transcription	Fetal Brain Male	brain
4	chr6:114252400-114266800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:114252600-114262600	Weak transcription	Fetal Kidney	kidney
6	chr6:114252600-114263800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:114252600-114264600	Weak transcription	Left Ventricle	heart
8	chr6:114252800-114262200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
11	chr6:114254000-114265800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:114254000-114267800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:114254000-114271400	Weak transcription	Stomach Mucosa	stomach
14	chr6:114254200-114265600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:114254600-114281800	Strong transcription	Dnd41	blood
16	chr6:114255400-114281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:114255600-114276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:114256600-114262200	Weak transcription	Brain Anterior Caudate	brain
19	chr6:114256600-114270000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:114257400-114263800	Weak transcription	Colonic Mucosa	Colon
21	chr6:114257400-114265800	Weak transcription	Pancreas	Pancrea
22	chr6:114258000-114265200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:114258200-114265400	Weak transcription	Ovary	ovary
24	chr6:114258200-114267400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:114258400-114267400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:114258400-114274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:114258400-114279600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:114258600-114262000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:114258600-114265400	Weak transcription	Small Intestine	intestine
30	chr6:114258600-114267400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:114258600-114267600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:114258600-114268000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:114258600-114270200	Strong transcription	Liver	Liver
34	chr6:114258600-114282600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:114258600-114291000	Weak transcription	Lung	lung
36	chr6:114258800-114262200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:114258800-114263200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:114258800-114263600	Weak transcription	Psoas Muscle	Psoas
39	chr6:114258800-114263800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:114258800-114265200	Weak transcription	NHLF	lung
41	chr6:114258800-114266800	Weak transcription	A549	lung
42	chr6:114258800-114267400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:114258800-114270600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:114258800-114279600	Strong transcription	Fetal Intestine Large	intestine
45	chr6:114258800-114281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:114258800-114281600	Weak transcription	Gastric	stomach
47	chr6:114258800-114285600	Weak transcription	Right Ventricle	heart
48	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
49	chr6:114259000-114263200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:114259000-114263600	Weak transcription	Brain Substantia Nigra	brain

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