Variant report

Variant	rs6690708
Chromosome Location	chr1:184836446-184836447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16823606	1.00[EUR][1000 genomes]
rs16823626	0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823651	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2840217	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57144153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57440078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60903884	1.00[EUR][1000 genomes]
rs6662843	1.00[TSI][hapmap]
rs6664204	1.00[MEX][hapmap]
rs6673017	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683230	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050643	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:184826400-184836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:184831400-184836600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:184831400-184874200	Weak transcription	Lung	lung
6	chr1:184831600-184836600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:184831600-184851600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:184832400-184847200	Weak transcription	Pancreas	Pancrea
9	chr1:184833000-184849400	Weak transcription	Fetal Heart	heart
10	chr1:184834400-184836600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:184834600-184837800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:184834600-184837800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:184834800-184837200	Enhancers	NHDF-Ad	bronchial
14	chr1:184834800-184837400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:184834800-184837600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:184835000-184837400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:184835200-184837600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:184835200-184840000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:184835400-184837400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:184835400-184837600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:184835400-184838200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:184835400-184838200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:184835600-184836600	Active TSS	Primary B cells from cord blood	blood
24	chr1:184835600-184838000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:184835800-184837200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:184835800-184837200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:184835800-184837200	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:184835800-184837200	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:184835800-184837200	Enhancers	HMEC	breast
30	chr1:184835800-184837200	Enhancers	NH-A	brain
31	chr1:184835800-184837200	Bivalent Enhancer	Osteobl	bone
32	chr1:184835800-184837400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:184835800-184837600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:184835800-184838000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:184835800-184838200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:184836000-184836800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:184836000-184837000	Enhancers	Primary T cells from cord blood	blood
38	chr1:184836000-184837400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:184836000-184837400	Enhancers	NHEK	skin
40	chr1:184836000-184838200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:184836200-184836600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:184836200-184836800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:184836200-184836800	Enhancers	HSMM	muscle
44	chr1:184836200-184837000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:184836200-184837000	Enhancers	Adipose Nuclei	Adipose
46	chr1:184836200-184837000	Enhancers	Psoas Muscle	Psoas
47	chr1:184836200-184837000	Enhancers	Right Ventricle	heart
48	chr1:184836200-184837000	Enhancers	Hela-S3	cervix
49	chr1:184836200-184837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:184836200-184837200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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