Variant report

Variant	rs4351403
Chromosome Location	chr8:125364138-125364139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
2	chr8:125311034..125312561-chr8:125362533..125365224,2	K562	blood:
3	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
4	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089507	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs10092974	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs10102946	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107757	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111526	0.92[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10217100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994409	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11998018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs12682324	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13250065	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264575	0.84[EUR][1000 genomes]
rs4076119	0.96[CEU][hapmap]
rs4131904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4464954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs4592013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870894	0.88[CEU][hapmap]
rs62530025	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6980763	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004196	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9656954	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3384288	chr8:125350820-125377284	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4351403	LOC286052	Cis_1M	lymphoblastoid	RTeQTL
rs4351403	RP11-383J24.6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:125353000-125376200	Weak transcription	HSMM	muscle
4	chr8:125353200-125364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:125353200-125364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:125354600-125365000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:125357600-125366600	Weak transcription	Right Ventricle	heart
9	chr8:125358600-125364800	Weak transcription	Psoas Muscle	Psoas
10	chr8:125358600-125365000	Weak transcription	Left Ventricle	heart
11	chr8:125360400-125364800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:125361400-125368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:125362800-125367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:125362800-125382800	Weak transcription	Ovary	ovary
16	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:125363200-125364200	Enhancers	Small Intestine	intestine
18	chr8:125363200-125365000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:125363400-125364400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:125363400-125368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:125363600-125364400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr8:125363600-125364600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:125363800-125364400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:125363800-125364400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125363800-125364400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:125363800-125364400	Enhancers	Fetal Intestine Small	intestine
28	chr8:125363800-125364400	Enhancers	Fetal Lung	lung
29	chr8:125363800-125364400	Enhancers	A549	lung
30	chr8:125363800-125364400	Flanking Active TSS	K562	blood
31	chr8:125363800-125364600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:125363800-125365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:125364000-125364200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr8:125364000-125364200	Active TSS	Adipose Nuclei	Adipose
35	chr8:125364000-125364400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:125364000-125364400	Flanking Active TSS	Fetal Heart	heart
37	chr8:125364000-125364400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr8:125364000-125364400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:125364000-125364600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr8:125364000-125364600	Enhancers	HUVEC	blood vessel
41	chr8:125364000-125365200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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