Variant report

Variant	rs59853867
Chromosome Location	chr2:172789359-172789360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172784866..172787052-chr2:172788179..172790740,2	K562	blood:
2	chr2:172777875..172780643-chr2:172787911..172791077,3	MCF-7	breast:
3	chr2:172780580..172784087-chr2:172788193..172790516,4	K562	blood:
4	chr2:172788825..172792438-chr2:172794169..172796469,4	K562	blood:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10166352	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10177679	0.84[ASN][1000 genomes]
rs10188587	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10439296	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930496	0.83[AMR][1000 genomes]
rs10930498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930500	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930501	0.80[ASN][1000 genomes]
rs11676484	0.80[ASN][1000 genomes]
rs11677573	0.84[ASN][1000 genomes]
rs11692418	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11695887	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883977	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12467010	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12468218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473516	0.80[ASN][1000 genomes]
rs12478215	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12617265	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12619137	0.82[AMR][1000 genomes]
rs13017988	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13018515	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13399316	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1443700	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1982288	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2028670	0.80[ASN][1000 genomes]
rs2028671	0.80[ASN][1000 genomes]
rs2028672	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2028673	0.80[AFR][1000 genomes]
rs2028674	0.80[AFR][1000 genomes]
rs2138873	0.82[AMR][1000 genomes]
rs2357207	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2357208	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28372952	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3791343	0.80[ASN][1000 genomes]
rs4072279	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4668416	0.82[AMR][1000 genomes]
rs4668419	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60706248	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6433318	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6707142	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6708365	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6711813	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6714214	0.80[ASN][1000 genomes]
rs6726991	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6736159	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6740705	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6742905	0.84[ASN][1000 genomes]
rs6757680	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6758494	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7340516	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7371503	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7579509	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588025	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7594478	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7597525	0.84[ASN][1000 genomes]
rs925881	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172791000	Weak transcription	Esophagus	oesophagus
3	chr2:172780000-172812800	Weak transcription	Lung	lung
4	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:172780200-172789800	Weak transcription	Colonic Mucosa	Colon
6	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
7	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
8	chr2:172780200-172795400	Weak transcription	Gastric	stomach
9	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:172780600-172795200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
16	chr2:172780600-172811200	Weak transcription	NHEK	skin
17	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:172780600-172822200	Weak transcription	Liver	Liver
19	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
20	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
22	chr2:172781000-172789800	Weak transcription	NHLF	lung
23	chr2:172781000-172792600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:172781000-172795400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
26	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:172781200-172801400	Weak transcription	NHDF-Ad	bronchial
28	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:172781400-172792400	Weak transcription	Fetal Heart	heart
31	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
32	chr2:172781800-172790000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:172782200-172789800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:172782600-172789400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:172782600-172789400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:172783000-172790000	Strong transcription	Primary B cells from cord blood	blood
37	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:172783800-172792800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:172783800-172792800	Weak transcription	Osteobl	bone
40	chr2:172783800-172796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:172783800-172811200	Weak transcription	HMEC	breast
42	chr2:172784000-172804200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:172784000-172811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:172784200-172795200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:172784200-172811200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:172784600-172815000	Weak transcription	Left Ventricle	heart
47	chr2:172785000-172811200	Weak transcription	Adipose Nuclei	Adipose
48	chr2:172785200-172796200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:172785400-172822400	Weak transcription	Placenta	Placenta

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