Variant report

Variant	rs6811858
Chromosome Location	chr4:110541840-110541841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110518488..110520568-chr4:110541257..110543563,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10017233	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511564	0.80[EUR][1000 genomes]
rs13116996	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs149772	0.81[ASN][1000 genomes]
rs183192	0.84[ASN][1000 genomes]
rs197202	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs197212	0.89[TSI][hapmap]
rs197215	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs197217	0.89[TSI][hapmap]
rs197232	0.84[ASN][1000 genomes]
rs197234	0.84[ASN][1000 genomes]
rs6533437	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533439	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533440	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533441	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6810719	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818852	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6827415	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6832174	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6841563	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9993676	0.89[TSI][hapmap]

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3419480	chr4:110521397-110549622	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6811858	CASP6	cis	cerebellum	SCAN
rs6811858	CASP6	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110531000-110546000	Weak transcription	Esophagus	oesophagus
2	chr4:110531000-110550600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:110531400-110546000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:110531400-110546000	Weak transcription	Spleen	Spleen
5	chr4:110531600-110543800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:110531600-110543800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:110531600-110545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:110531600-110546000	Weak transcription	Thymus	Thymus
9	chr4:110531600-110549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:110531800-110543800	Weak transcription	Fetal Thymus	thymus
11	chr4:110532600-110545800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:110532800-110546000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:110533400-110552800	Weak transcription	Primary B cells from cord blood	blood
15	chr4:110534800-110547000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:110536000-110545800	Weak transcription	Dnd41	blood
17	chr4:110536000-110552800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:110536200-110546000	Weak transcription	Aorta	Aorta
19	chr4:110536400-110552800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:110536400-110552800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:110537400-110543800	Weak transcription	Ovary	ovary
22	chr4:110537400-110547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:110538000-110546000	Weak transcription	Gastric	stomach
24	chr4:110538400-110552000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:110538600-110545800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:110538600-110546000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:110538600-110546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:110538800-110544600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:110538800-110546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:110539400-110544600	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:110539400-110546000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:110539400-110549200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:110539400-110550800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:110539600-110543800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:110539800-110542400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:110539800-110543600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:110540000-110546000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:110541400-110546000	Weak transcription	Pancreas	Pancrea
39	chr4:110541600-110543000	Enhancers	Primary T helper cells PMA-I stimulated	--

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