Variant report

Variant	rs10951977
Chromosome Location	chr7:6239038-6239039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6238671..6240280-chr7:6246179..6247952,2	K562	blood:
2	chr7:6237378..6239314-chr7:6387267..6389950,2	MCF-7	breast:
3	chr7:6137902..6140709-chr7:6237423..6239773,2	K562	blood:

Variant related genes	Relation type
ENSG00000178397	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10224504	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10247585	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10253501	0.82[AMR][1000 genomes]
rs10253733	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10257191	0.86[AMR][1000 genomes]
rs12669486	0.83[ASN][1000 genomes]
rs58466335	0.83[ASN][1000 genomes]
rs7811702	0.82[EUR][1000 genomes]

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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6213200-6240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6219600-6241800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6219600-6243000	Weak transcription	K562	blood
4	chr7:6219800-6241800	Weak transcription	Pancreas	Pancrea
5	chr7:6227400-6242800	Weak transcription	A549	lung
6	chr7:6228200-6240800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:6228600-6247800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:6228600-6257400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:6228800-6244200	Weak transcription	NHDF-Ad	bronchial
10	chr7:6229000-6259800	Weak transcription	NHEK	skin
11	chr7:6229200-6241800	Weak transcription	Esophagus	oesophagus
12	chr7:6229200-6244000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:6229200-6244600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:6229200-6252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:6229400-6240200	Weak transcription	HSMM	muscle
16	chr7:6229400-6240600	Weak transcription	Spleen	Spleen
17	chr7:6229400-6242200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:6229400-6270600	Weak transcription	Gastric	stomach
19	chr7:6229800-6240600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:6229800-6244200	Weak transcription	Lung	lung
21	chr7:6229800-6244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:6229800-6248600	Weak transcription	Fetal Lung	lung
23	chr7:6229800-6257600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6230000-6240200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:6230000-6240400	Weak transcription	Fetal Stomach	stomach
26	chr7:6230000-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:6230000-6240600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:6230000-6248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:6230400-6240400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:6230400-6244600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:6231600-6240400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:6233600-6240600	Weak transcription	NHLF	lung
33	chr7:6235600-6239200	Enhancers	Psoas Muscle	Psoas
34	chr7:6237000-6239600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:6237000-6241000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:6237400-6239200	Enhancers	Fetal Heart	heart
37	chr7:6237600-6239200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:6237600-6239600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:6237600-6240200	Weak transcription	Left Ventricle	heart
40	chr7:6237600-6242600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:6237800-6239400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:6237800-6239600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:6238000-6240000	Enhancers	Fetal Kidney	kidney
44	chr7:6238000-6241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:6238200-6239600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:6238400-6239200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:6238400-6239200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:6238400-6239200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:6238400-6239200	Enhancers	Ovary	ovary
50	chr7:6238400-6239200	Enhancers	Small Intestine	intestine

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