Variant report

Variant	rs1688639
Chromosome Location	chr6:119068696-119068697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119057902..119060681-chr6:119068005..119070664,2	K562	blood:
2	chr6:119060047..119062597-chr6:119065156..119068895,3	K562	blood:
3	chr6:119066428..119069279-chr6:119071576..119073945,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11153775	0.98[ASN][1000 genomes]
rs1546083	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1688625	0.93[ASN][1000 genomes]
rs1688640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688641	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1688642	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1771736	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771740	0.91[ASN][1000 genomes]
rs60653259	0.84[AMR][1000 genomes]
rs794880	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs947138	0.90[ASN][1000 genomes]
rs986152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119056600-119069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:119056800-119069800	Weak transcription	Pancreas	Pancrea
3	chr6:119058200-119068800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:119060200-119069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:119061400-119069200	Weak transcription	Brain Substantia Nigra	brain
6	chr6:119062000-119070200	Weak transcription	Fetal Brain Female	brain
7	chr6:119065200-119069000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:119065400-119068800	Enhancers	Fetal Thymus	thymus
9	chr6:119065400-119068800	Weak transcription	Stomach Mucosa	stomach
10	chr6:119065600-119069600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:119066000-119069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:119066000-119069600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:119066000-119069600	Weak transcription	Ovary	ovary
14	chr6:119066000-119069800	Weak transcription	Left Ventricle	heart
15	chr6:119066000-119069800	Weak transcription	Right Atrium	heart
16	chr6:119066000-119071000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:119066200-119069200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:119066200-119069200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:119066200-119069200	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:119066200-119069600	Enhancers	Thymus	Thymus
21	chr6:119066200-119069800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:119066200-119070000	Enhancers	Primary B cells from cord blood	blood
23	chr6:119066200-119070800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:119066400-119069000	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:119066400-119069200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:119066400-119069200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:119066400-119069200	Weak transcription	HMEC	breast
28	chr6:119066400-119069200	Weak transcription	Osteobl	bone
29	chr6:119066400-119069400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:119066400-119069600	Enhancers	GM12878-XiMat	blood
31	chr6:119066400-119070000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:119066400-119070200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:119066400-119070200	Weak transcription	Fetal Lung	lung
34	chr6:119066600-119069200	Weak transcription	NH-A	brain
35	chr6:119066600-119069400	Weak transcription	NHDF-Ad	bronchial
36	chr6:119066800-119068800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:119066800-119069000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:119066800-119069600	Weak transcription	NHLF	lung
39	chr6:119067000-119068800	Enhancers	Dnd41	blood
40	chr6:119067000-119069800	Weak transcription	Spleen	Spleen
41	chr6:119067000-119070600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:119067400-119069200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:119067600-119069600	Weak transcription	Psoas Muscle	Psoas
44	chr6:119067600-119070200	Enhancers	Primary hematopoietic stem cells	blood
45	chr6:119067800-119069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:119067800-119069200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:119067800-119069400	Weak transcription	K562	blood
48	chr6:119067800-119069800	Weak transcription	Fetal Brain Male	brain
49	chr6:119067800-119069800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:119068000-119069200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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