Variant report

Variant	rs6604646
Chromosome Location	chr1:216989961-216989962
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:21)

rs_ID	r²[population]
rs11117687	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1126021	0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12568029	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12723353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12727957	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733125	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12745662	0.94[CHB][hapmap];0.85[EUR][1000 genomes]
rs12753723	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760372	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1344874	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1545109	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1545110	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1821787	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1971804	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2164613	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2164614	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7526618	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528362	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7531310	0.94[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543938	0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216987000-216991000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:216987600-216992400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:216988000-216997200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:216988600-216990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:216989000-217005800	Weak transcription	Left Ventricle	heart
6	chr1:216989200-216992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:216989400-216990000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:216989400-216990600	Weak transcription	Fetal Brain Male	brain
9	chr1:216989400-216998200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:216989600-216990200	Enhancers	Fetal Lung	lung
11	chr1:216989600-216991800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:216989600-216992400	Enhancers	Fetal Heart	heart
13	chr1:216989600-216992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:216989600-216992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:216989600-216993200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:216989600-216993200	Weak transcription	Small Intestine	intestine
17	chr1:216989600-216993200	Weak transcription	HSMMtube	muscle
18	chr1:216989600-216993600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:216989600-216993800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:216989600-216993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:216989600-216994000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:216989600-216997800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:216989600-216998000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:216989600-217000600	Weak transcription	Psoas Muscle	Psoas
25	chr1:216989800-216990000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:216989800-216992800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:216989800-216993800	Weak transcription	Fetal Kidney	kidney

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