Variant report

Variant	rs6683647
Chromosome Location	chr1:214677298-214677299
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	chr1:214677154..214678655-chr1:214700789..214703552,2	MCF-7	breast:
2	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11120349	0.84[CEU][hapmap]
rs11801700	0.82[ASN][1000 genomes]
rs12073252	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs12562411	0.87[CEU][hapmap]
rs12562873	0.88[CEU][hapmap]
rs12565246	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12565465	0.82[ASN][1000 genomes]
rs12753039	0.94[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs17023117	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs17023132	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs28565340	0.83[ASN][1000 genomes]
rs34952927	0.88[CEU][hapmap]
rs4129059	0.93[YRI][hapmap];0.95[ASN][1000 genomes]
rs4326598	0.92[JPT][hapmap]
rs4414018	0.89[CEU][hapmap]
rs4465173	0.92[JPT][hapmap]
rs61443257	0.93[ASN][1000 genomes]
rs6665967	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6680964	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6685189	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6687162	0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6693492	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72759615	0.95[ASN][1000 genomes]
rs72759620	0.88[ASN][1000 genomes]
rs72759626	0.88[ASN][1000 genomes]
rs7533482	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214654400-214677400	Weak transcription	Gastric	stomach
2	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
3	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
4	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
5	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
9	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:214670000-214680000	Weak transcription	NH-A	brain
11	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
15	chr1:214674200-214677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
17	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
18	chr1:214674400-214678200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:214674400-214678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:214674400-214679400	Weak transcription	HMEC	breast
21	chr1:214674400-214680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
23	chr1:214674600-214677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:214674600-214677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:214674600-214677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:214674600-214677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:214674600-214678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:214674600-214678400	Weak transcription	Ovary	ovary
29	chr1:214674600-214678600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:214674600-214678800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:214674600-214680000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:214674600-214680200	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:214674800-214677600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:214675000-214677400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:214675000-214677600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:214675000-214677600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:214675000-214678000	Weak transcription	NHLF	lung
39	chr1:214675000-214680000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:214675200-214680000	Weak transcription	NHDF-Ad	bronchial
41	chr1:214676000-214679800	Genic enhancers	NHEK	skin
42	chr1:214676400-214677800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:214676400-214677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:214676400-214680000	Enhancers	A549	lung
45	chr1:214676600-214681000	Enhancers	Stomach Mucosa	stomach
46	chr1:214676800-214677600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:214676800-214678000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:214676800-214678000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:214676800-214681400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:214677000-214677400	Enhancers	Hela-S3	cervix

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