Variant report

Variant	rs17101158
Chromosome Location	chr14:63887142-63887143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63886647..63888599-chr14:64009349..64011541,2	K562	blood:
2	chr14:63884387..63889474-chr14:63890982..63895061,6	MCF-7	breast:
3	chr14:63881053..63883432-chr14:63886290..63888118,2	K562	blood:

Variant related genes	Relation type
ENSG00000261242	Chromatin interaction
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11850471	1.00[EUR][1000 genomes]
rs1255615	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255717	1.00[EUR][1000 genomes]
rs1255773	1.00[EUR][1000 genomes]
rs1255787	1.00[EUR][1000 genomes]
rs17101157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17101167	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17225133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17225301	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17824943	1.00[EUR][1000 genomes]
rs17824967	1.00[EUR][1000 genomes]
rs17824991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825003	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17825015	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17825021	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17825057	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17825063	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17825081	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs1951211	1.00[EUR][1000 genomes]
rs2144967	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2180493	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28583743	0.93[ASN][1000 genomes]
rs3783737	1.00[EUR][1000 genomes]
rs3783742	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4147457	1.00[CHB][hapmap]
rs61995012	0.93[ASN][1000 genomes]
rs7140400	1.00[CHB][hapmap]
rs73274647	1.00[EUR][1000 genomes]
rs74060078	1.00[EUR][1000 genomes]
rs74060079	1.00[EUR][1000 genomes]
rs8023046	1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2533003	chr14:63887004-63888568	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
2	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:63849000-63888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
5	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:63852600-63899000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:63854000-63893400	Weak transcription	Fetal Brain Male	brain
9	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:63858000-63890200	Weak transcription	Pancreas	Pancrea
11	chr14:63858400-63900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:63858600-63891400	Weak transcription	Osteobl	bone
13	chr14:63859800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:63860000-63888000	Weak transcription	HUVEC	blood vessel
15	chr14:63862000-63902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:63862200-63897800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:63862200-63902600	Weak transcription	Brain Angular Gyrus	brain
18	chr14:63862200-63903600	Weak transcription	HMEC	breast
19	chr14:63862400-63887800	Weak transcription	Thymus	Thymus
20	chr14:63862400-63894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:63863800-63888000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:63864200-63890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:63865800-63887800	Weak transcription	Fetal Brain Female	brain
24	chr14:63869000-63888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:63870400-63888800	Weak transcription	Psoas Muscle	Psoas
26	chr14:63871800-63900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:63872000-63898200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:63872200-63901200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:63872400-63888200	Weak transcription	Brain Anterior Caudate	brain
30	chr14:63872600-63899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:63873800-63890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:63874000-63892200	Weak transcription	Fetal Kidney	kidney
33	chr14:63877400-63894400	Weak transcription	Spleen	Spleen
34	chr14:63877400-63903200	Weak transcription	Aorta	Aorta
35	chr14:63877800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:63878000-63887800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:63878000-63888200	Weak transcription	Fetal Heart	heart
38	chr14:63878000-63889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:63878600-63899000	Weak transcription	Fetal Stomach	stomach
40	chr14:63879000-63887800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:63879000-63888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:63879200-63887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:63879200-63891400	Weak transcription	Esophagus	oesophagus
44	chr14:63879400-63894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:63879400-63894800	Weak transcription	Ovary	ovary
46	chr14:63880000-63887200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:63880800-63888000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:63880800-63888400	Weak transcription	HSMMtube	muscle
49	chr14:63880800-63902000	Weak transcription	NHLF	lung
50	chr14:63880800-63902600	Weak transcription	Lung	lung

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