Variant report

Variant	rs2187435
Chromosome Location	chr11:74857789-74857790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74850392..74852587-chr11:74855694..74858278,2	MCF-7	breast:
2	chr11:74855408..74858303-chr11:74861375..74864283,3	K562	blood:
3	chr11:74856309..74859040-chr11:74914787..74916343,2	MCF-7	breast:
4	chr11:74851665..74854336-chr11:74855499..74858438,2	MCF-7	breast:
5	chr11:74856690..74858303-chr11:74861317..74863016,2	K562	blood:
6	chr11:74856790..74858510-chr11:74872953..74874736,2	K562	blood:

Variant related genes	Relation type
ENSG00000255395	Chromatin interaction
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10899068	0.80[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs11236316	0.82[ASN][1000 genomes]
rs11236317	0.82[ASN][1000 genomes]
rs11236322	0.82[ASN][1000 genomes]
rs11236323	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11236325	0.87[CEU][hapmap];0.81[ASN][1000 genomes]
rs11236359	0.95[CEU][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1893839	0.81[ASN][1000 genomes]
rs2712781	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2712787	0.94[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2712789	0.90[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2712796	0.83[JPT][hapmap]
rs2712805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712819	0.95[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712820	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2712821	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851066	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851073	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851074	0.95[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2851085	0.90[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851094	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2851096	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851102	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851110	0.83[ASN][1000 genomes]
rs3017932	0.80[ASN][1000 genomes]
rs3018832	0.81[ASN][1000 genomes]
rs34806493	0.82[ASN][1000 genomes]
rs4146884	0.90[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7112183	0.81[ASN][1000 genomes]
rs7122948	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs753171	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs949072	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9634028	0.80[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	nsv526053	chr11:74857436-74861545	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2187435	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74852000-74861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74852400-74858200	Weak transcription	Esophagus	oesophagus
3	chr11:74852400-74861000	Weak transcription	Stomach Mucosa	stomach
4	chr11:74853800-74857800	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:74853800-74860200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:74853800-74862000	Enhancers	HepG2	liver
7	chr11:74853800-74862200	Enhancers	Placenta	Placenta
8	chr11:74854000-74862000	Enhancers	Fetal Intestine Large	intestine
9	chr11:74854400-74858400	Weak transcription	Left Ventricle	heart
10	chr11:74854400-74858400	Weak transcription	Right Atrium	heart
11	chr11:74854400-74858400	Weak transcription	Right Ventricle	heart
12	chr11:74855200-74862200	Enhancers	Fetal Intestine Small	intestine
13	chr11:74855400-74857800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:74855600-74858200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:74855600-74858200	Weak transcription	Spleen	Spleen
16	chr11:74855600-74861200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:74855600-74861600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:74855800-74857800	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:74855800-74858000	Weak transcription	Fetal Thymus	thymus
20	chr11:74855800-74858200	Weak transcription	Liver	Liver
21	chr11:74855800-74858200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:74855800-74858400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:74855800-74858800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:74855800-74858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:74856000-74857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:74856000-74857800	Weak transcription	Lung	lung
27	chr11:74856000-74858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:74856000-74858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:74856200-74860200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:74856400-74859200	Enhancers	K562	blood
31	chr11:74856400-74859600	Enhancers	Colonic Mucosa	Colon
32	chr11:74856600-74858600	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:74856600-74863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:74857000-74857800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:74857000-74859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:74857000-74860000	Enhancers	Adipose Nuclei	Adipose
37	chr11:74857400-74858600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:74857400-74859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
40	chr11:74857600-74859200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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