Variant report

Variant	rs17117747
Chromosome Location	chr1:59010738-59010739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59000333..59003093-chr1:59009787..59012199,2	MCF-7	breast:
2	chr1:58983446..58986008-chr1:59008978..59011103,2	K562	blood:
3	chr1:59004925..59008153-chr1:59009746..59011637,3	MCF-7	breast:
4	chr1:59010701..59012328-chr1:59112006..59114513,3	MCF-7	breast:
5	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
6	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
7	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270209	Chromatin interaction
ENSG00000184292	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];0.97[ASN][1000 genomes]
rs11805701	0.97[ASN][1000 genomes]
rs11805835	0.97[ASN][1000 genomes]
rs11807197	0.97[ASN][1000 genomes]
rs11808438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11809508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs14008	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs17096876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17117650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117720	0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117732	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];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179798	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2268943	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2271005	0.97[ASN][1000 genomes]
rs232835	0.86[ASN][1000 genomes]
rs232840	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4912340	0.97[ASN][1000 genomes]
rs4912345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4912346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs57318433	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57329436	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58370911	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59493428	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60008712	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60179866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60614132	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61629658	0.97[ASN][1000 genomes]
rs61781815	0.97[ASN][1000 genomes]
rs61781821	0.97[ASN][1000 genomes]
rs61781822	0.97[ASN][1000 genomes]
rs61781823	0.97[ASN][1000 genomes]
rs61781824	0.97[ASN][1000 genomes]
rs6587829	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6683669	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs6686976	0.97[ASN][1000 genomes]
rs725907	0.97[ASN][1000 genomes]
rs72672292	0.89[ASN][1000 genomes]
rs729084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs7533855	1.00[CEU][hapmap]
rs7535313	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7537470	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[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:96 , 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	chr1:58974800-59010800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:58974800-59011800	Weak transcription	Spleen	Spleen
4	chr1:58975000-59010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:58977200-59010800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:58977200-59011400	Weak transcription	Ovary	ovary
7	chr1:58977400-59011400	Weak transcription	Left Ventricle	heart
8	chr1:58977400-59011400	Weak transcription	Lung	lung
9	chr1:58977600-59011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:58979000-59011400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:58990800-59011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:58992400-59010800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:58994200-59011000	Weak transcription	HSMM	muscle
14	chr1:58994400-59010800	Weak transcription	NHEK	skin
15	chr1:58996200-59011000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:58997200-59010800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:58998200-59010800	Weak transcription	GM12878-XiMat	blood
18	chr1:59001200-59011400	Weak transcription	Pancreas	Pancrea
19	chr1:59001800-59011200	Weak transcription	Right Ventricle	heart
20	chr1:59004200-59010800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:59005000-59011200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:59005600-59010800	Weak transcription	Primary B cells from cord blood	blood
23	chr1:59005800-59010800	Weak transcription	Fetal Lung	lung
24	chr1:59005800-59011000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:59006000-59010800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:59006200-59010800	Weak transcription	Stomach Mucosa	stomach
27	chr1:59008600-59010800	Enhancers	Brain Anterior Caudate	brain
28	chr1:59009000-59010800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:59009200-59010800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:59009200-59011200	Weak transcription	Right Atrium	heart
31	chr1:59009400-59011200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:59009400-59011200	Weak transcription	K562	blood
33	chr1:59009600-59011200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:59010200-59010800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:59010200-59010800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:59010200-59011000	Enhancers	Fetal Brain Male	brain
37	chr1:59010200-59011000	Enhancers	Fetal Brain Female	brain
38	chr1:59010200-59011400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:59010400-59010800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:59010400-59011000	Enhancers	Colon Smooth Muscle	Colon
41	chr1:59010400-59011200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:59010400-59011200	Enhancers	Fetal Kidney	kidney
43	chr1:59010400-59011400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:59010400-59011400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:59010600-59010800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:59010600-59010800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:59010600-59010800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:59010600-59010800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:59010600-59010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:59010600-59010800	Enhancers	Duodenum Smooth Muscle	Duodenum

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