Variant report

Variant	rs11265500
Chromosome Location	chr1:160832212-160832213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10908807	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11265498	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11265499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265501	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12035295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12035537	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12036607	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12036670	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12037395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12037740	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12037885	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12038419	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12038600	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039896	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039959	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12040060	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040152	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12040750	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12041508	0.82[ASN][1000 genomes]
rs12046019	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12046021	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12047127	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048113	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1412849	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1576964	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1855188	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1855189	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3766378	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4017458	0.85[ASN][1000 genomes]
rs4656940	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656941	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656943	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4656944	0.82[ASN][1000 genomes]
rs4656945	0.82[ASN][1000 genomes]
rs480104	0.82[CHB][hapmap]
rs57483437	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58418513	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59712018	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61803263	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61803285	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6698454	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6699162	0.81[ASN][1000 genomes]
rs72710762	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7410867	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7412693	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7412696	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7419088	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7419110	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7419145	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs955370	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs955371	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11265500	CD244	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160828600-160835000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:160829200-160832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:160830000-160833000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:160830000-160833200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:160830000-160833800	Enhancers	Primary B cells from cord blood	blood
6	chr1:160830200-160834200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:160830600-160832600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:160830600-160833000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:160830600-160833000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:160830600-160833600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr1:160830800-160832600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:160830800-160832600	Enhancers	Spleen	Spleen
13	chr1:160830800-160832800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:160831200-160832800	Weak transcription	Ovary	ovary
15	chr1:160831200-160833600	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:160831600-160832800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:160831800-160832400	Active TSS	Fetal Intestine Small	intestine
18	chr1:160831800-160832400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:160831800-160832400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:160831800-160832800	Enhancers	Placenta	Placenta
21	chr1:160831800-160833000	Enhancers	Primary T cells from cord blood	blood
22	chr1:160831800-160833000	Enhancers	Fetal Heart	heart
23	chr1:160831800-160834400	Enhancers	GM12878-XiMat	blood
24	chr1:160832000-160832400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:160832000-160832400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:160832000-160832400	Weak transcription	Liver	Liver
27	chr1:160832000-160832600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:160832000-160832800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:160832200-160832400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:160832200-160832400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr1:160832200-160832400	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:160832200-160832400	Active TSS	Colonic Mucosa	Colon
33	chr1:160832200-160832400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:160832200-160832400	Flanking Active TSS	Fetal Thymus	thymus
35	chr1:160832200-160832400	Enhancers	Right Atrium	heart
36	chr1:160832200-160832400	Bivalent Enhancer	HepG2	liver
37	chr1:160832200-160832600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:160832200-160832600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:160832200-160832600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:160832200-160832600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:160832200-160832600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:160832200-160832600	Enhancers	Esophagus	oesophagus
43	chr1:160832200-160832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:160832200-160832800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:160832200-160833000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:160832200-160833000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:160832200-160837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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