Variant report

Variant	rs11218301
Chromosome Location	chr11:121342087-121342088
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	chr11:121314908..121316644-chr11:121341905..121344129,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10892752	0.84[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs11218304	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218312	0.81[AMR][1000 genomes]
rs11218319	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11218326	0.90[CHB][hapmap]
rs11512476	0.90[CHB][hapmap]
rs11518396	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12360983	0.81[AMR][1000 genomes]
rs12361125	0.84[AMR][1000 genomes]
rs12796043	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12796201	0.81[AMR][1000 genomes]
rs2276346	0.90[CHB][hapmap]
rs3862605	0.81[MEX][hapmap];1.00[YRI][hapmap]
rs3862606	0.89[CEU][hapmap]
rs3933403	0.90[CHB][hapmap]
rs4935775	0.89[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap]
rs7105365	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs7109029	0.83[AMR][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	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11218301	CD3G	cis	cerebellum	SCAN
rs11218301	HEPACAM	cis	cerebellum	SCAN
rs11218301	MLL	cis	cerebellum	SCAN
rs11218301	TMEM25	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121333200-121343400	Enhancers	Liver	Liver
2	chr11:121337400-121343000	Weak transcription	Small Intestine	intestine
3	chr11:121337400-121347000	Weak transcription	Gastric	stomach
4	chr11:121337400-121349400	Weak transcription	Ovary	ovary
5	chr11:121337400-121350600	Weak transcription	Left Ventricle	heart
6	chr11:121337400-121358800	Weak transcription	Right Ventricle	heart
7	chr11:121337600-121358800	Weak transcription	Brain Germinal Matrix	brain
8	chr11:121338200-121348800	Weak transcription	Colonic Mucosa	Colon
9	chr11:121338200-121349000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:121338600-121343800	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:121339000-121343200	Strong transcription	Fetal Intestine Small	intestine
12	chr11:121339000-121343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:121339000-121349200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:121339000-121358200	Weak transcription	Aorta	Aorta
15	chr11:121339200-121343600	Weak transcription	NHEK	skin
16	chr11:121339200-121343800	Weak transcription	HMEC	breast
17	chr11:121339200-121344000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:121339200-121345600	Genic enhancers	GM12878-XiMat	blood
19	chr11:121339200-121346200	Weak transcription	Stomach Mucosa	stomach
20	chr11:121339200-121346800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:121339200-121347200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:121339200-121348200	Weak transcription	Pancreas	Pancrea
23	chr11:121339200-121348800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:121339200-121349000	Weak transcription	Lung	lung
25	chr11:121339200-121349000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:121339400-121345000	Strong transcription	HepG2	liver
27	chr11:121339400-121345600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:121339800-121343800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:121339800-121347200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:121339800-121351000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:121339800-121351000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:121340000-121348200	Weak transcription	Esophagus	oesophagus
33	chr11:121340000-121349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:121340200-121342600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:121340200-121344000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:121340400-121342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:121340400-121342800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:121340400-121349400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:121340600-121342200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr11:121340600-121342200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:121340600-121342200	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr11:121340600-121342400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:121340600-121342400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:121340600-121342400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:121340600-121342600	Strong transcription	Primary B cells from cord blood	blood
46	chr11:121340600-121342600	Strong transcription	Fetal Stomach	stomach
47	chr11:121340600-121342800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:121340600-121342800	Strong transcription	Spleen	Spleen
49	chr11:121340600-121343000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:121340600-121343200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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