Variant report

Variant	rs979935
Chromosome Location	chr1:172332009-172332010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172330690..172333183-chr1:172340261..172343230,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1011731	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs1023479	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs10489284	0.89[CHB][hapmap]
rs10752944	0.89[CHB][hapmap]
rs10797996	0.81[ASN][1000 genomes]
rs10911654	0.83[ASN][1000 genomes]
rs10911684	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs10911792	0.81[CHB][hapmap]
rs12404665	0.81[ASN][1000 genomes]
rs1894633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2001129	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2032528	0.88[CHB][hapmap]
rs2213731	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs2213732	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2227198	0.89[CHB][hapmap]
rs2227199	0.90[CHB][hapmap]
rs2227200	0.82[ASN][1000 genomes]
rs2269612	0.81[ASN][1000 genomes]
rs2301453	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs3213564	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs34945663	0.80[ASN][1000 genomes]
rs3768445	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs4471302	0.90[CHB][hapmap]
rs4504922	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4916251	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs4916252	0.81[ASN][1000 genomes]
rs57668887	0.96[ASN][1000 genomes]
rs6424894	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6676665	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs6697844	0.93[ASN][1000 genomes]
rs6698987	0.89[CHB][hapmap]
rs714515	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs73046851	1.00[ASN][1000 genomes]
rs7518039	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7534393	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7539972	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7544610	0.80[ASN][1000 genomes]
rs9286854	0.90[CHB][hapmap]
rs9425291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9425301	0.90[CHB][hapmap]
rs9425568	0.93[ASN][1000 genomes]
rs9425573	0.98[ASN][1000 genomes]
rs9425575	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425579	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9425586	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9425587	0.81[ASN][1000 genomes]
rs9425589	0.81[ASN][1000 genomes]
rs9425592	0.89[CHB][hapmap]
rs9425628	0.89[CHB][hapmap]
rs991790	0.81[CHB][hapmap]

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	nsv3543	chr1:172323563-172334586	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172320800-172332800	Enhancers	Fetal Intestine Small	intestine
2	chr1:172323000-172333000	Enhancers	Fetal Intestine Large	intestine
3	chr1:172326600-172332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:172327200-172332200	Enhancers	Brain Substantia Nigra	brain
5	chr1:172328000-172332400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:172328400-172334000	Weak transcription	Aorta	Aorta
7	chr1:172329000-172332400	Weak transcription	Fetal Brain Male	brain
8	chr1:172329200-172334600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:172329800-172334000	Weak transcription	Left Ventricle	heart
10	chr1:172329800-172334000	Weak transcription	Osteobl	bone
11	chr1:172330200-172332200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:172330400-172332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:172330400-172332200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:172330400-172336600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:172330400-172343000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:172330600-172332200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:172331000-172336400	Weak transcription	Small Intestine	intestine
18	chr1:172331200-172347200	Weak transcription	Fetal Kidney	kidney
19	chr1:172331800-172332400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:172332000-172332200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:172332000-172332200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:172332000-172332200	Enhancers	Brain Anterior Caudate	brain
23	chr1:172332000-172332200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:172332000-172332200	Enhancers	Fetal Lung	lung
25	chr1:172332000-172332200	Enhancers	A549	lung
26	chr1:172332000-172332400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:172332000-172332800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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