Variant report

Variant	rs4345604
Chromosome Location	chr8:121793178-121793179
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086173	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087417	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100219	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13256614	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13266005	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13267880	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269664	1.00[CEU][hapmap]
rs13274524	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542435	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608098	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34131072	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34261625	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34274533	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34521781	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35855379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327892	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4509376	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57356692	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67852639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67932638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984228	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988083	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988816	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993049	1.00[CEU][hapmap]
rs6996312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010152	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010935	1.00[CEU][hapmap]
rs7011039	1.00[CEU][hapmap]
rs73325120	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4345604	SCD	trans	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121775200-121797400	Weak transcription	Spleen	Spleen
4	chr8:121777400-121796600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121778200-121797200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:121782000-121796600	Weak transcription	Esophagus	oesophagus
7	chr8:121782000-121797600	Weak transcription	Aorta	Aorta
8	chr8:121785000-121793200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:121785600-121795200	Enhancers	NHDF-Ad	bronchial
10	chr8:121786800-121796600	Weak transcription	Placenta	Placenta
11	chr8:121787000-121793600	Enhancers	HepG2	liver
12	chr8:121787200-121797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:121787600-121794400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:121787800-121793200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:121787800-121794600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:121788200-121794200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:121788400-121794600	Enhancers	NHLF	lung
18	chr8:121788600-121793200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:121788600-121794200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:121788600-121794400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:121788800-121793200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:121788800-121793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:121788800-121794200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:121788800-121794200	Enhancers	HSMM	muscle
25	chr8:121789000-121793200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:121789000-121793600	Enhancers	HSMMtube	muscle
27	chr8:121789000-121793600	Enhancers	HUVEC	blood vessel
28	chr8:121789000-121793800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:121789000-121793800	Enhancers	NH-A	brain
30	chr8:121789000-121794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:121789000-121797400	Weak transcription	Primary B cells from cord blood	blood
32	chr8:121789000-121797800	Weak transcription	Thymus	Thymus
33	chr8:121789400-121794400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:121789600-121793600	Enhancers	Hela-S3	cervix
35	chr8:121789800-121793400	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:121790000-121794600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr8:121790400-121797200	Weak transcription	Right Atrium	heart
38	chr8:121790400-121797600	Weak transcription	Gastric	stomach
39	chr8:121790800-121794200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:121790800-121797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:121791200-121797200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:121791400-121793800	Weak transcription	Small Intestine	intestine
43	chr8:121791400-121796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:121791400-121796600	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:121791400-121797400	Weak transcription	Fetal Stomach	stomach
46	chr8:121791600-121793200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:121792200-121793200	Weak transcription	Psoas Muscle	Psoas
48	chr8:121792200-121794200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:121792200-121794600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:121792200-121794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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