Variant report

Variant	rs519630
Chromosome Location	chr6:147558033-147558034
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	chr6:147556538..147559509-chr6:147591738..147594515,2	K562	blood:
2	chr6:147524067..147526505-chr6:147556018..147559013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1039084	0.92[EUR][1000 genomes]
rs1039086	0.91[EUR][1000 genomes]
rs1147846	0.91[EUR][1000 genomes]
rs1147847	0.92[EUR][1000 genomes]
rs1221638	0.90[EUR][1000 genomes]
rs12527235	0.92[EUR][1000 genomes]
rs1992389	0.92[EUR][1000 genomes]
rs2119490	0.81[EUR][1000 genomes]
rs2502732	0.94[EUR][1000 genomes]
rs2582924	0.82[EUR][1000 genomes]
rs2582929	0.92[EUR][1000 genomes]
rs2786183	0.92[EUR][1000 genomes]
rs2786184	0.89[ASN][1000 genomes]
rs2786185	0.93[EUR][1000 genomes]
rs2786187	0.86[EUR][1000 genomes]
rs4896907	0.85[EUR][1000 genomes]
rs533201	0.90[ASN][1000 genomes]
rs556493	0.92[EUR][1000 genomes]
rs562417	0.91[EUR][1000 genomes]
rs566028	0.87[EUR][1000 genomes]
rs580657	0.95[EUR][1000 genomes]
rs584456	0.93[EUR][1000 genomes]
rs58987334	0.84[EUR][1000 genomes]
rs591355	0.94[EUR][1000 genomes]
rs597631	0.94[EUR][1000 genomes]
rs614476	0.93[EUR][1000 genomes]
rs618474	0.94[EUR][1000 genomes]
rs619626	0.95[EUR][1000 genomes]
rs620715	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62435630	0.92[EUR][1000 genomes]
rs633603	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs657155	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs659399	0.92[EUR][1000 genomes]
rs673944	0.80[EUR][1000 genomes]
rs6928919	0.93[EUR][1000 genomes]
rs6932613	0.91[EUR][1000 genomes]
rs7762087	0.92[EUR][1000 genomes]
rs9373522	0.80[EUR][1000 genomes]
rs9377048	0.92[EUR][1000 genomes]
rs9390459	0.83[EUR][1000 genomes]
rs9497725	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
3	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
5	chr6:147527400-147558800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:147527400-147563800	Weak transcription	NH-A	brain
7	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
9	chr6:147527600-147559600	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:147528800-147565800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:147528800-147572000	Weak transcription	A549	lung
13	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
14	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
15	chr6:147530000-147572000	Weak transcription	NHEK	skin
16	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:147537600-147572200	Weak transcription	Ovary	ovary
19	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
21	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
22	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
23	chr6:147540200-147559200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:147540200-147569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
26	chr6:147540800-147561800	Weak transcription	Fetal Kidney	kidney
27	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:147543800-147559000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:147543800-147560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:147543800-147561800	Weak transcription	Adipose Nuclei	Adipose
31	chr6:147543800-147562000	Weak transcription	NHLF	lung
32	chr6:147543800-147562600	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:147543800-147563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:147543800-147566200	Weak transcription	Stomach Mucosa	stomach
35	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:147544000-147559200	Weak transcription	Fetal Intestine Small	intestine
38	chr6:147544000-147561800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood
40	chr6:147544200-147559400	Weak transcription	Fetal Thymus	thymus
41	chr6:147544200-147566800	Weak transcription	Pancreas	Pancrea
42	chr6:147544200-147574200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:147544400-147574800	Weak transcription	HepG2	liver
44	chr6:147545200-147562200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:147545600-147560200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:147545600-147571600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
48	chr6:147547400-147558600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:147549200-147561800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:147549200-147562400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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