Variant report

Variant	rs17117714
Chromosome Location	chr1:59003225-59003226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58999840..59003717-chr1:59009218..59013187,5	K562	blood:
2	chr1:59000599..59004010-chr1:59008365..59012989,5	MCF-7	breast:
3	chr1:59001436..59003298-chr1:59241272..59243943,2	K562	blood:

Variant related genes	Relation type
ENSG00000173406	Chromatin interaction
ENSG00000162600	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11801938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11805701	1.00[ASN][1000 genomes]
rs11805835	1.00[ASN][1000 genomes]
rs11807197	1.00[ASN][1000 genomes]
rs11808438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11809508	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs14008	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17096876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17117650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117720	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117850	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs179798	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2268943	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2271005	1.00[ASN][1000 genomes]
rs232835	0.84[ASN][1000 genomes]
rs232840	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4912340	1.00[ASN][1000 genomes]
rs4912345	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4912346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57318433	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57329436	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58370911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59493428	0.86[EUR][1000 genomes]
rs60008712	0.86[EUR][1000 genomes]
rs60179866	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60614132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61629658	1.00[ASN][1000 genomes]
rs61781815	1.00[ASN][1000 genomes]
rs61781821	1.00[ASN][1000 genomes]
rs61781822	1.00[ASN][1000 genomes]
rs61781823	1.00[ASN][1000 genomes]
rs61781824	1.00[ASN][1000 genomes]
rs6587829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6683669	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs6686976	1.00[ASN][1000 genomes]
rs725907	1.00[ASN][1000 genomes]
rs72672292	0.86[ASN][1000 genomes]
rs729084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7333	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7533855	1.00[CEU][hapmap]
rs7535313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7537470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
3	chr1:58967600-59010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:58974800-59005000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:58974800-59010800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:58974800-59011800	Weak transcription	Spleen	Spleen
7	chr1:58975000-59010600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:58975000-59010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:58977200-59005000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:58977200-59010800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:58977200-59011400	Weak transcription	Ovary	ovary
12	chr1:58977400-59005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:58977400-59008600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:58977400-59010400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:58977400-59010600	Weak transcription	Aorta	Aorta
16	chr1:58977400-59010600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:58977400-59010600	Weak transcription	Psoas Muscle	Psoas
18	chr1:58977400-59011400	Weak transcription	Left Ventricle	heart
19	chr1:58977400-59011400	Weak transcription	Lung	lung
20	chr1:58977600-59011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:58978200-59010200	Weak transcription	Dnd41	blood
22	chr1:58979000-59005400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:58979000-59011400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:58982200-59008200	Weak transcription	Brain Substantia Nigra	brain
25	chr1:58985200-59010600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:58985800-59010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:58985800-59010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:58989200-59004600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:58989200-59010600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:58989400-59010600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:58990800-59008200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:58990800-59011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:58991400-59003800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:58992400-59003400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:58992400-59010800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:58993000-59004400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:58993000-59008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:58993000-59010400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:58993000-59010600	Weak transcription	Liver	Liver
40	chr1:58994200-59011000	Weak transcription	HSMM	muscle
41	chr1:58994400-59010800	Weak transcription	NHEK	skin
42	chr1:58994600-59005000	Weak transcription	Fetal Lung	lung
43	chr1:58994600-59010600	Weak transcription	NHDF-Ad	bronchial
44	chr1:58995000-59004600	Weak transcription	Fetal Intestine Large	intestine
45	chr1:58995000-59004600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:58995000-59010600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:58995200-59005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:58996200-59011000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:58996600-59004400	Weak transcription	Primary T cells from cord blood	blood
50	chr1:58996600-59010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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