Variant report

Variant	rs34617159
Chromosome Location	chr5:14726609-14726610
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14720788..14722772-chr5:14725861..14727703,2	MCF-7	breast:
2	chr5:14717556..14719233-chr5:14725303..14727840,2	K562	blood:
3	chr5:14726225..14728660-chr5:15003605..15005990,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13159680	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149125	0.84[ASN][1000 genomes]
rs149497	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152719	1.00[ASN][1000 genomes]
rs152970	1.00[ASN][1000 genomes]
rs152971	1.00[ASN][1000 genomes]
rs152972	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152973	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153831	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153832	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153833	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153835	1.00[ASN][1000 genomes]
rs153837	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154667	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17249895	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011206	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2455240	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250878	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25941	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25942	1.00[ASN][1000 genomes]
rs25943	1.00[ASN][1000 genomes]
rs28107	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31993	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31994	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31995	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34087737	0.88[ASN][1000 genomes]
rs39609	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs430035	0.83[EUR][1000 genomes]
rs455943	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456977	0.85[EUR][1000 genomes]
rs457377	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458863	0.83[EUR][1000 genomes]
rs461015	0.83[EUR][1000 genomes]
rs461056	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs461154	0.83[EUR][1000 genomes]
rs620434	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:14713400-14727400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:14713800-14727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:14714400-14727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
7	chr5:14715200-14727600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:14715200-14728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:14715200-14728600	Weak transcription	Esophagus	oesophagus
10	chr5:14715200-14736200	Weak transcription	Pancreas	Pancrea
11	chr5:14715200-14737400	Weak transcription	Spleen	Spleen
12	chr5:14716000-14727800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:14716000-14730600	Weak transcription	Fetal Thymus	thymus
14	chr5:14716000-14737000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:14716200-14727400	Weak transcription	Fetal Brain Male	brain
16	chr5:14717000-14727600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:14717000-14727600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:14717200-14727600	Weak transcription	Brain Germinal Matrix	brain
19	chr5:14717200-14728800	Weak transcription	Lung	lung
20	chr5:14717200-14730600	Weak transcription	Ovary	ovary
21	chr5:14717400-14727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:14718000-14728200	Weak transcription	Colonic Mucosa	Colon
23	chr5:14718200-14733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:14721200-14730000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:14721400-14727200	Weak transcription	Fetal Brain Female	brain
26	chr5:14721400-14727600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:14721400-14727600	Weak transcription	Hela-S3	cervix
28	chr5:14721400-14739000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:14721400-14741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:14721600-14727200	Strong transcription	Primary T cells from cord blood	blood
31	chr5:14721600-14727600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:14721600-14729800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:14721600-14737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:14721600-14738200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:14721800-14727400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:14722600-14727200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:14722600-14727800	Weak transcription	Stomach Mucosa	stomach
38	chr5:14722800-14727200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:14722800-14727600	Weak transcription	HepG2	liver
40	chr5:14722800-14727800	Strong transcription	Fetal Intestine Small	intestine
41	chr5:14723000-14727200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:14723000-14727200	Strong transcription	Fetal Intestine Large	intestine
43	chr5:14724000-14727200	Strong transcription	Dnd41	blood
44	chr5:14724400-14727800	Enhancers	Brain Hippocampus Middle	brain
45	chr5:14724800-14727200	Genic enhancers	Left Ventricle	heart
46	chr5:14725200-14727000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:14725200-14727200	Genic enhancers	Brain Cingulate Gyrus	brain
48	chr5:14725200-14727200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr5:14725200-14727200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:14725200-14727600	Weak transcription	Primary B cells from peripheral blood	blood

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