Variant report

Variant	rs1019710
Chromosome Location	chr2:172038524-172038525
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	chr2:172037115..172039035-chr2:172040563..172042289,2	K562	blood:
2	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883894	0.98[ASN][1000 genomes]
rs12464487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467411	0.81[EUR][1000 genomes]
rs12469418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12469870	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12470359	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473741	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12477413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477548	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477555	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12478336	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16859157	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16859189	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16859203	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16859206	0.99[ASN][1000 genomes]
rs1863679	0.95[ASN][1000 genomes]
rs1989612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1989613	0.98[ASN][1000 genomes]
rs2356517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35614064	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770419	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4305237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4365428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56216250	1.00[ASN][1000 genomes]
rs56686274	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57335774	0.98[ASN][1000 genomes]
rs57851561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58126203	0.81[EUR][1000 genomes]
rs58289498	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58441581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58712847	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59083018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60091560	0.98[ASN][1000 genomes]
rs60241632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60724749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60729063	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60928633	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs728456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7423767	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[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	nsv522291	chr2:172034918-172043803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172036600-172038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:172036800-172038800	Enhancers	NHEK	skin
3	chr2:172037200-172038600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:172037200-172038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:172037200-172041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:172037400-172038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:172037800-172038600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:172037800-172038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:172037800-172038800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:172038000-172038600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:172038000-172038600	Active TSS	Duodenum Mucosa	Duodenum
12	chr2:172038000-172038600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:172038000-172038600	Enhancers	Pancreas	Pancrea
14	chr2:172038000-172038600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:172038000-172038600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:172038000-172038600	Enhancers	GM12878-XiMat	blood
17	chr2:172038000-172038600	Flanking Active TSS	K562	blood
18	chr2:172038000-172038600	Enhancers	NHDF-Ad	bronchial
19	chr2:172038000-172038800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:172038000-172038800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:172038000-172038800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:172038000-172038800	Enhancers	Primary B cells from cord blood	blood
23	chr2:172038200-172038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:172038200-172038600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:172038200-172038600	Enhancers	Stomach Mucosa	stomach
26	chr2:172038200-172038600	Bivalent Enhancer	HepG2	liver
27	chr2:172038400-172038600	Active TSS	Adipose Nuclei	Adipose
28	chr2:172038400-172038800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:172038400-172039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:172038400-172041800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:172038400-172042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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