Variant report

Variant	rs7747973
Chromosome Location	chr6:30661987-30661988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30660190..30662374-chr6:30672012..30673610,2	MCF-7	breast:
2	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
3	chr6:30580498..30587281-chr6:30649167..30662031,51	K562	blood:
4	chr6:30660276..30662136-chr6:30669560..30671241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000224328	Chromatin interaction
ENSG00000272540	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17189357	1.00[ASN][1000 genomes]
rs28986467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57529939	1.00[ASN][1000 genomes]
rs61059475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931296	1.00[ASN][1000 genomes]
rs73422011	0.85[AFR][1000 genomes]
rs73422013	0.85[AFR][1000 genomes]
rs73422044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433122	1.00[ASN][1000 genomes]
rs73433127	1.00[ASN][1000 genomes]
rs73433141	1.00[ASN][1000 genomes]
rs73433149	1.00[ASN][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	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
9	nsv884095	chr6:30644987-30664567	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv884096	chr6:30647979-30664567	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884098	chr6:30650378-30664567	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv969377	chr6:30659579-30667545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30658800-30662400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:30658800-30668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30658800-30670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:30658800-30670400	Weak transcription	Lung	lung
5	chr6:30659000-30663600	Weak transcription	Pancreas	Pancrea
6	chr6:30659000-30669800	Weak transcription	Left Ventricle	heart
7	chr6:30659000-30670200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:30659000-30670200	Weak transcription	Esophagus	oesophagus
9	chr6:30659000-30670200	Weak transcription	Gastric	stomach
10	chr6:30659000-30670200	Weak transcription	Ovary	ovary
11	chr6:30659000-30670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:30659000-30670200	Weak transcription	Spleen	Spleen
13	chr6:30659000-30670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:30659000-30670800	Weak transcription	Right Ventricle	heart
15	chr6:30659200-30666400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:30659200-30667800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:30659200-30668000	Weak transcription	Thymus	Thymus
18	chr6:30659200-30669800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:30659200-30670000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:30659200-30670200	Weak transcription	Colonic Mucosa	Colon
21	chr6:30659200-30670400	Weak transcription	Aorta	Aorta
22	chr6:30659200-30670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
24	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
25	chr6:30659400-30662800	Weak transcription	Fetal Kidney	kidney
26	chr6:30659400-30662800	Weak transcription	Osteobl	bone
27	chr6:30659400-30666200	Weak transcription	Fetal Intestine Small	intestine
28	chr6:30659400-30666400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:30659400-30667600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:30659400-30667800	Weak transcription	Fetal Brain Female	brain
31	chr6:30659400-30669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:30659400-30669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:30659400-30670200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:30659400-30671000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:30659400-30672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
38	chr6:30659600-30662400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:30659600-30662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:30659600-30662400	Weak transcription	HMEC	breast
41	chr6:30659600-30662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:30659600-30662600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:30659600-30662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:30659600-30662600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:30659600-30662600	Weak transcription	Hela-S3	cervix
46	chr6:30659600-30662600	Weak transcription	NHEK	skin
47	chr6:30659600-30662800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:30659600-30662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:30659600-30662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:30659600-30662800	Weak transcription	Muscle Satellite Cultured Cells	--

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