Variant report

Variant	rs4841051
Chromosome Location	chr8:8685646-8685647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8680684..8683788-chr8:8684972..8687852,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10046783	0.81[CHB][hapmap]
rs10046784	0.81[CHB][hapmap]
rs1039915	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1039916	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115138	0.81[CHB][hapmap]
rs11249891	0.84[EUR][1000 genomes]
rs11249893	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11775523	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11777085	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11783966	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs11784052	0.82[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12544992	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs12545499	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12547493	0.89[CEU][hapmap];0.83[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12677543	0.83[EUR][1000 genomes]
rs12677550	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs12682352	0.93[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs13254903	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs13259070	0.84[EUR][1000 genomes]
rs13259216	0.89[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13265731	0.83[CHB][hapmap]
rs1510934	0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs1533058	0.96[CEU][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1533059	0.96[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1567398	0.91[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1876836	0.80[CHB][hapmap]
rs2048419	0.86[EUR][1000 genomes]
rs2271342	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2409092	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2409096	0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs2428	0.81[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs332039	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs332040	0.89[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.89[MEX][hapmap]
rs35039922	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35431455	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3789843	0.81[ASN][1000 genomes]
rs3789849	0.83[EUR][1000 genomes]
rs3827806	0.91[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs408459	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap]
rs435953	0.86[ASN][1000 genomes]
rs437895	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4382480	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs440788	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4481596	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840362	0.82[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4841040	0.84[EUR][1000 genomes]
rs4841042	0.82[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs4841044	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs4841045	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4841055	1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs57312668	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59046059	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60315134	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601265	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6993494	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs6994038	0.84[EUR][1000 genomes]
rs7006589	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs7017599	0.81[ASN][1000 genomes]
rs7823757	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7832968	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs882462	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs907183	0.92[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4841051	C8orf13	cis	multi-tissue	Pritchard
rs4841051	MFHAS1	cis	cerebellum	SCAN
rs4841051	CLDN23	cis	multi-tissue	Pritchard
rs4841051	SGK223	cis	Thyroid	GTEx
rs4841051	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs4841051	TDH	cis	cerebellum	SCAN
rs4841051	CTSB	cis	cerebellum	SCAN
rs4841051	PPP1R3B	cis	cerebellum	SCAN
rs4841051	PRSS55	cis	cerebellum	SCAN
rs4841051	FAM86B3P	cis	Esophagus Mucosa	GTEx
rs4841051	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs4841051	FLJ10661	cis	cerebellum	SCAN
rs4841051	RP11-62H7.2	cis	Thyroid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:8667200-8685800	Weak transcription	Right Atrium	heart
6	chr8:8667200-8686200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
8	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:8667400-8686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
11	chr8:8667600-8685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:8670200-8701200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:8670400-8685800	Weak transcription	Thymus	Thymus
16	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:8670800-8692400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:8671000-8692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:8672000-8700200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:8674800-8701800	Weak transcription	Primary T cells from cord blood	blood
21	chr8:8675200-8699000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:8675400-8685800	Weak transcription	Gastric	stomach
23	chr8:8675600-8686000	Weak transcription	Pancreas	Pancrea
24	chr8:8675800-8699800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:8676200-8699400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:8676600-8691400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:8677200-8686000	Weak transcription	Liver	Liver
28	chr8:8678000-8688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:8678600-8694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:8678800-8685800	Weak transcription	Left Ventricle	heart
31	chr8:8678800-8701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:8679400-8686000	Weak transcription	Right Ventricle	heart
33	chr8:8679600-8701400	Weak transcription	A549	lung
34	chr8:8679600-8701600	Weak transcription	HepG2	liver
35	chr8:8680000-8686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:8680400-8700200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:8680600-8685800	Weak transcription	Fetal Kidney	kidney
38	chr8:8680600-8685800	Weak transcription	Lung	lung
39	chr8:8680800-8687400	Weak transcription	Brain Angular Gyrus	brain
40	chr8:8681000-8686200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:8681800-8685800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:8681800-8686200	Weak transcription	Brain Anterior Caudate	brain
43	chr8:8681800-8700000	Weak transcription	Fetal Thymus	thymus
44	chr8:8682200-8686200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:8682600-8685800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:8683200-8691400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:8683200-8701400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:8683800-8701000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:8684000-8686000	Weak transcription	K562	blood
50	chr8:8684000-8691800	Weak transcription	NHDF-Ad	bronchial

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