Variant report

Variant	rs3130675
Chromosome Location	chr6:30669354-30669355
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30582379..30585084-chr6:30667890..30669551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1264422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]
rs9262217	0.83[EUR][1000 genomes]
rs9262222	0.83[EUR][1000 genomes]
rs9262223	0.83[EUR][1000 genomes]
rs9262225	0.83[EUR][1000 genomes]
rs9262234	0.83[EUR][1000 genomes]
rs9262239	0.83[EUR][1000 genomes]
rs9262242	0.83[EUR][1000 genomes]
rs9262256	0.83[EUR][1000 genomes]
rs9262257	1.00[EUR][1000 genomes]
rs9262268	0.83[EUR][1000 genomes]
rs9262270	0.83[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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30658800-30670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:30658800-30670400	Weak transcription	Lung	lung
3	chr6:30659000-30669800	Weak transcription	Left Ventricle	heart
4	chr6:30659000-30670200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30659000-30670200	Weak transcription	Esophagus	oesophagus
6	chr6:30659000-30670200	Weak transcription	Gastric	stomach
7	chr6:30659000-30670200	Weak transcription	Ovary	ovary
8	chr6:30659000-30670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:30659000-30670200	Weak transcription	Spleen	Spleen
10	chr6:30659000-30670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:30659000-30670800	Weak transcription	Right Ventricle	heart
12	chr6:30659200-30669800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:30659200-30670000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:30659200-30670200	Weak transcription	Colonic Mucosa	Colon
15	chr6:30659200-30670400	Weak transcription	Aorta	Aorta
16	chr6:30659200-30670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
18	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
19	chr6:30659400-30670200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:30659400-30671000	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:30659400-30672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
24	chr6:30659600-30669600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:30659600-30670000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:30659600-30670000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:30659600-30670000	Weak transcription	Brain Anterior Caudate	brain
28	chr6:30659600-30670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:30659600-30670200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:30659600-30670200	Weak transcription	Brain Angular Gyrus	brain
31	chr6:30659600-30670200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:30659600-30670200	Weak transcription	Fetal Lung	lung
33	chr6:30659600-30670200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:30659600-30670200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:30659600-30670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:30659600-30670400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:30659600-30670400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:30659600-30670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:30659600-30670400	Weak transcription	HUVEC	blood vessel
40	chr6:30659600-30670800	Weak transcription	Primary B cells from cord blood	blood
41	chr6:30659600-30672200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
43	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
45	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
46	chr6:30659800-30669800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:30659800-30674800	Weak transcription	GM12878-XiMat	blood
48	chr6:30663200-30674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:30663200-30674600	Weak transcription	A549	lung
50	chr6:30663200-30677000	Weak transcription	NHDF-Ad	bronchial

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