Variant report

Variant	rs744196
Chromosome Location	chr6:134568216-134568217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134564852..134569014-chr6:134570433..134573870,3	K562	blood:

Variant related genes	Relation type
ENSG00000118515	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009840	0.89[JPT][hapmap]
rs13193056	0.92[ASN][1000 genomes]
rs13203172	0.83[JPT][hapmap]
rs1621042	0.83[JPT][hapmap]
rs1631657	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs1631879	0.85[ASN][1000 genomes]
rs17063535	0.88[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17063545	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs17063554	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs17063563	0.82[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1743936	0.92[ASN][1000 genomes]
rs1743937	0.84[ASN][1000 genomes]
rs1743938	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs1743940	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs1743942	0.85[ASN][1000 genomes]
rs1743946	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1763502	0.84[JPT][hapmap]
rs1763509	0.87[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1763510	0.82[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1763511	0.92[ASN][1000 genomes]
rs1763520	0.89[ASN][1000 genomes]
rs4896028	0.83[JPT][hapmap]
rs4896029	0.99[ASN][1000 genomes]
rs57109798	0.81[ASN][1000 genomes]
rs62425170	0.85[ASN][1000 genomes]
rs62425189	0.85[ASN][1000 genomes]
rs62425190	0.85[ASN][1000 genomes]
rs734738	1.00[JPT][hapmap]
rs9385680	0.84[ASN][1000 genomes]
rs9493857	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492292	chr6:134464255-135028540	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026369	chr6:134468470-135122264	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	81 gene(s)	inside rSNPs	diseases
3	nsv538444	chr6:134468470-135122264	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv1018677	chr6:134512542-134638259	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv538445	chr6:134512542-134638259	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1023931	chr6:134512542-134668702	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv538446	chr6:134512542-134668702	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134557800-134571000	Weak transcription	NH-A	brain
2	chr6:134561000-134569600	Weak transcription	Ovary	ovary
3	chr6:134561200-134568400	Weak transcription	Brain Substantia Nigra	brain
4	chr6:134561200-134568400	Weak transcription	Esophagus	oesophagus
5	chr6:134562600-134569400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:134562600-134570600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:134562600-134574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:134562800-134568600	Weak transcription	Brain Anterior Caudate	brain
9	chr6:134566000-134571400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:134566200-134568600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:134566200-134568800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:134566200-134568800	Enhancers	NHEK	skin
13	chr6:134566200-134569000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:134566200-134569000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:134566200-134569000	Enhancers	HMEC	breast
16	chr6:134566200-134570800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:134566200-134571200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:134566200-134572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:134566200-134572200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:134566200-134572200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:134566200-134572200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:134566200-134572800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:134566400-134569400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:134566400-134570400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:134566600-134568800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:134566600-134571000	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:134566600-134571600	Enhancers	Primary B cells from cord blood	blood
28	chr6:134566800-134569400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:134567000-134570000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:134567000-134570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:134567800-134568400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:134567800-134569800	Enhancers	Pancreas	Pancrea
33	chr6:134567800-134570000	Enhancers	HepG2	liver
34	chr6:134567800-134570800	Enhancers	Thymus	Thymus
35	chr6:134568000-134568400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr6:134568000-134568600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:134568000-134570600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:134568200-134568400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:134568200-134568400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:134568200-134568400	Flanking Active TSS	Fetal Thymus	thymus
41	chr6:134568200-134568400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:134568200-134568400	Enhancers	Stomach Mucosa	stomach
43	chr6:134568200-134568600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:134568200-134568600	Enhancers	Adipose Nuclei	Adipose
45	chr6:134568200-134568600	Enhancers	Psoas Muscle	Psoas
46	chr6:134568200-134568800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr6:134568200-134569000	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:134568200-134569200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:134568200-134569200	Enhancers	Hela-S3	cervix
50	chr6:134568200-134570600	Enhancers	Brain Hippocampus Middle	brain

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