Variant report

Variant	rs387819
Chromosome Location	chr6:118889327-118889328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118888846..118889639-chr6:118939253..118940221,2	MCF-7	breast:
2	chr6:118845234..118848026-chr6:118887537..118889460,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1150121	1.00[EUR][1000 genomes]
rs1288839	1.00[EUR][1000 genomes]
rs1319989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334651	1.00[EUR][1000 genomes]
rs1688637	1.00[EUR][1000 genomes]
rs1777652	1.00[EUR][1000 genomes]
rs2000111	1.00[EUR][1000 genomes]
rs2496350	1.00[EUR][1000 genomes]
rs2496351	1.00[EUR][1000 genomes]
rs2496354	1.00[EUR][1000 genomes]
rs2516263	1.00[EUR][1000 genomes]
rs2884001	1.00[EUR][1000 genomes]
rs407747	1.00[EUR][1000 genomes]
rs415198	1.00[EUR][1000 genomes]
rs448134	1.00[EUR][1000 genomes]
rs4946340	1.00[EUR][1000 genomes]
rs4946342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4946345	1.00[EUR][1000 genomes]
rs6914241	1.00[EUR][1000 genomes]
rs9387577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised 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	9 gene(s)	inside rSNPs	diseases
14	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases
17	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
19	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118847800-118895400	Weak transcription	Pancreas	Pancrea
2	chr6:118852600-118895200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:118864400-118895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:118868600-118894000	Weak transcription	Fetal Stomach	stomach
5	chr6:118872200-118895200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118872800-118895200	Weak transcription	HMEC	breast
7	chr6:118873800-118895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:118874600-118895200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:118874600-118895200	Weak transcription	K562	blood
10	chr6:118875400-118895200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:118877800-118895200	Weak transcription	Gastric	stomach
12	chr6:118880200-118890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:118880400-118895200	Weak transcription	Left Ventricle	heart
14	chr6:118880400-118895200	Weak transcription	Right Ventricle	heart
15	chr6:118880600-118889400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:118880800-118894400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:118880800-118895000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:118881000-118895200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:118881800-118895200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:118884200-118889600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:118884200-118894600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:118884200-118895200	Weak transcription	Aorta	Aorta
23	chr6:118884200-118895400	Weak transcription	NHLF	lung
24	chr6:118884400-118889800	Weak transcription	NHDF-Ad	bronchial
25	chr6:118884600-118894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:118885000-118891800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:118885000-118894000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:118885200-118889400	Weak transcription	Stomach Mucosa	stomach
29	chr6:118885400-118895400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:118886800-118895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:118887000-118889600	Weak transcription	Adipose Nuclei	Adipose
32	chr6:118887000-118891600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:118887000-118895000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:118887000-118895200	Weak transcription	Psoas Muscle	Psoas
35	chr6:118887200-118891400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:118887200-118891400	Weak transcription	Fetal Brain Female	brain
37	chr6:118887200-118891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:118887200-118894200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:118887200-118895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:118887200-118895200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:118887200-118895200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:118887200-118895200	Weak transcription	Osteobl	bone
43	chr6:118887400-118889400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:118887400-118892400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:118887400-118892600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:118887400-118894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:118887400-118894600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:118887400-118894800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:118887400-118895000	Weak transcription	NH-A	brain
50	chr6:118887400-118895200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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