Variant report

Variant	rs7456581
Chromosome Location	chr7:6243255-6243256
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	chr7:6236702..6238483-chr7:6243119..6244691,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10085518	0.91[ASW][hapmap];0.85[JPT][hapmap]
rs10253805	0.93[JPT][hapmap];0.85[TSI][hapmap]
rs10254043	0.88[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap]
rs10272684	0.83[CHB][hapmap]
rs11762792	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap]
rs12536508	0.83[CHB][hapmap]
rs2002952	0.82[ASN][1000 genomes]
rs3793207	0.91[ASW][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.94[YRI][hapmap]
rs4035512	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap]
rs6463532	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6962026	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6973832	0.87[JPT][hapmap];0.95[TSI][hapmap]
rs7810368	0.87[JPT][hapmap]
rs9886265	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak 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	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv5629	chr7:6217866-6263131	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7456581	CYTH3	cis	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6228600-6247800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:6228600-6257400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:6228800-6244200	Weak transcription	NHDF-Ad	bronchial
4	chr7:6229000-6259800	Weak transcription	NHEK	skin
5	chr7:6229200-6244000	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:6229200-6244600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:6229200-6252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:6229400-6270600	Weak transcription	Gastric	stomach
9	chr7:6229800-6244200	Weak transcription	Lung	lung
10	chr7:6229800-6244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:6229800-6248600	Weak transcription	Fetal Lung	lung
12	chr7:6229800-6257600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:6230000-6248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:6230400-6244600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:6238400-6243800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:6238600-6245200	Weak transcription	HSMMtube	muscle
17	chr7:6238600-6261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:6238800-6248400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:6239000-6245200	Weak transcription	Aorta	Aorta
20	chr7:6239200-6245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6239200-6249200	Weak transcription	Small Intestine	intestine
22	chr7:6239600-6248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:6240800-6265400	Weak transcription	HSMM	muscle
24	chr7:6241000-6243800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:6241000-6243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:6241000-6244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:6241000-6245600	Weak transcription	Fetal Heart	heart
28	chr7:6241000-6248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:6241000-6265200	Weak transcription	Fetal Stomach	stomach
30	chr7:6241200-6245200	Weak transcription	NHLF	lung
31	chr7:6241200-6265600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:6241400-6246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:6241800-6246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:6242000-6244000	Weak transcription	Psoas Muscle	Psoas
35	chr7:6242000-6244600	Weak transcription	Ovary	ovary
36	chr7:6242000-6245800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:6242000-6245800	Weak transcription	Pancreas	Pancrea
38	chr7:6242000-6246000	Weak transcription	Right Ventricle	heart
39	chr7:6242200-6244000	Weak transcription	Left Ventricle	heart
40	chr7:6242200-6245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:6242200-6246000	Weak transcription	Right Atrium	heart
42	chr7:6242200-6249000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:6242400-6245800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:6242800-6243400	Enhancers	A549	lung
45	chr7:6243000-6243400	Enhancers	K562	blood
46	chr7:6243000-6245200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:6243200-6243600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:6243200-6244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:6243200-6245600	Weak transcription	Osteobl	bone

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