Variant report

Variant	rs6688811
Chromosome Location	chr1:185941775-185941776
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	chr1:185938849..185942940-chr1:185946271..185949311,3	MCF-7	breast:
2	chr1:185937559..185939140-chr1:185939272..185942030,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10157742	1.00[LWK][hapmap]
rs10737266	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs10752958	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs10798030	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs10798033	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs10798036	1.00[LWK][hapmap]
rs10911806	0.84[CEU][hapmap]
rs10911808	0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap]
rs10911816	1.00[LWK][hapmap]
rs12129650	0.84[CEU][hapmap]
rs12566113	0.88[CEU][hapmap]
rs1322358	1.00[LWK][hapmap]
rs1475113	1.00[LWK][hapmap]
rs1569989	0.88[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs2024901	0.88[CEU][hapmap]
rs2208085	0.84[CEU][hapmap]
rs2208711	1.00[LWK][hapmap]
rs2224276	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs4141459	0.88[CEU][hapmap]
rs4626827	0.87[CEU][hapmap];0.83[TSI][hapmap]
rs4650689	0.88[CEU][hapmap]
rs4650691	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs4651292	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs4651299	1.00[LWK][hapmap]
rs4651302	1.00[LWK][hapmap]
rs6425012	0.88[CEU][hapmap]
rs6425013	0.86[CEU][hapmap]
rs6425014	0.88[CEU][hapmap]
rs6658929	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs6659819	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs6665753	0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap]
rs6697503	1.00[LWK][hapmap]
rs716756	1.00[LWK][hapmap]
rs743136	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs743137	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs7520459	0.84[CEU][hapmap]
rs7541013	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs7555520	1.00[LWK][hapmap]
rs7555906	1.00[LWK][hapmap]
rs7556344	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs7556537	1.00[LWK][hapmap]
rs980947	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185936800-185942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:185937000-185964000	Weak transcription	Aorta	Aorta
6	chr1:185938200-185944000	Enhancers	NH-A	brain
7	chr1:185938200-185944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:185938600-185946600	Weak transcription	Fetal Kidney	kidney
9	chr1:185938800-185942400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:185938800-185990200	Weak transcription	Liver	Liver
11	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:185939000-185941800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:185939000-185944200	Enhancers	NHDF-Ad	bronchial
14	chr1:185939000-185953600	Weak transcription	Fetal Lung	lung
15	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:185939600-185942200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:185939800-185958600	Weak transcription	Left Ventricle	heart
19	chr1:185940400-185942800	Enhancers	HSMM	muscle
20	chr1:185940400-185944000	Enhancers	NHLF	lung
21	chr1:185940600-185944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:185940800-185941800	Enhancers	HSMMtube	muscle
23	chr1:185940800-185942000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:185940800-185942200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:185940800-185942800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:185940800-185943600	Enhancers	HMEC	breast
27	chr1:185941200-185943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:185941400-185943600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:185941400-185944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:185941400-185944200	Enhancers	Osteobl	bone

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