Variant report

Variant	rs1688637
Chromosome Location	chr6:119066184-119066185
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	chr6:119060047..119062597-chr6:119065156..119068895,3	K562	blood:
2	chr6:118970885..118973094-chr6:119064943..119066835,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1150121	1.00[EUR][1000 genomes]
rs1288839	1.00[EUR][1000 genomes]
rs1334651	1.00[EUR][1000 genomes]
rs1777652	1.00[EUR][1000 genomes]
rs2000111	1.00[EUR][1000 genomes]
rs2638540	1.00[EUR][1000 genomes]
rs284917	1.00[EUR][1000 genomes]
rs2884001	1.00[EUR][1000 genomes]
rs387819	1.00[EUR][1000 genomes]
rs407747	1.00[EUR][1000 genomes]
rs448134	1.00[EUR][1000 genomes]
rs59547233	1.00[EUR][1000 genomes]
rs60554369	1.00[EUR][1000 genomes]
rs6914241	1.00[EUR][1000 genomes]
rs73519448	1.00[EUR][1000 genomes]
rs73519453	1.00[EUR][1000 genomes]
rs73519455	1.00[EUR][1000 genomes]
rs73521373	1.00[EUR][1000 genomes]
rs73521381	1.00[EUR][1000 genomes]
rs7751545	1.00[EUR][1000 genomes]
rs9372513	1.00[EUR][1000 genomes]
rs9401100	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464030	chr6:119043898-119080379	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv470855	chr6:119043898-119080379	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv604560	chr6:119043898-119080379	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119056600-119067400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:119056600-119069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:119056800-119069800	Weak transcription	Pancreas	Pancrea
4	chr6:119058200-119068800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:119060200-119067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:119060200-119069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:119061400-119069200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:119061800-119067000	Weak transcription	Dnd41	blood
9	chr6:119062000-119066200	Weak transcription	K562	blood
10	chr6:119062000-119066200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:119062000-119067400	Weak transcription	Fetal Brain Male	brain
12	chr6:119062000-119070200	Weak transcription	Fetal Brain Female	brain
13	chr6:119062200-119067000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:119062400-119066200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:119062400-119066400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:119064000-119066400	Weak transcription	GM12878-XiMat	blood
17	chr6:119064000-119068400	Enhancers	Fetal Muscle Leg	muscle
18	chr6:119064600-119066400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:119064600-119068200	Enhancers	HSMM	muscle
20	chr6:119064800-119066200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:119064800-119066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:119064800-119066400	Enhancers	Fetal Lung	lung
23	chr6:119064800-119066400	Enhancers	HMEC	breast
24	chr6:119064800-119066600	Enhancers	NH-A	brain
25	chr6:119064800-119066600	Enhancers	NHDF-Ad	bronchial
26	chr6:119064800-119068600	Enhancers	Fetal Stomach	stomach
27	chr6:119065000-119066200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:119065000-119066200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:119065000-119066400	Enhancers	Osteobl	bone
30	chr6:119065000-119066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:119065200-119069000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:119065400-119066800	Enhancers	NHLF	lung
33	chr6:119065400-119067000	Enhancers	Psoas Muscle	Psoas
34	chr6:119065400-119068800	Enhancers	Fetal Thymus	thymus
35	chr6:119065400-119068800	Weak transcription	Stomach Mucosa	stomach
36	chr6:119065600-119067800	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:119065600-119069600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:119065800-119066200	Enhancers	Brain Hippocampus Middle	brain
39	chr6:119065800-119066200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:119066000-119066200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:119066000-119067200	Weak transcription	HSMMtube	muscle
42	chr6:119066000-119069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:119066000-119069600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:119066000-119069600	Weak transcription	Ovary	ovary
45	chr6:119066000-119069800	Weak transcription	Left Ventricle	heart
46	chr6:119066000-119069800	Weak transcription	Right Atrium	heart
47	chr6:119066000-119071000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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