Variant report

Variant	rs2272383
Chromosome Location	chr11:8123499-8123500
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	chr11:8121814..8124790-chr11:8126729..8128996,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10431029	0.88[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs1055233	0.84[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10734629	0.88[CEU][hapmap];0.94[JPT][hapmap]
rs10743052	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10769872	0.84[CEU][hapmap]
rs1569128	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2049684	0.88[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2141321	0.84[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758042	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6578934	0.80[AMR][1000 genomes]
rs7482611	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs7937959	0.82[EUR][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8105800-8127400	Weak transcription	HepG2	liver
2	chr11:8109000-8125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8113200-8128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:8114400-8124000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:8114400-8125600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:8114400-8125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:8114400-8128200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:8114400-8133600	Weak transcription	Liver	Liver
11	chr11:8114600-8126800	Weak transcription	Fetal Heart	heart
12	chr11:8114800-8124600	Weak transcription	Small Intestine	intestine
13	chr11:8115200-8128800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:8115400-8129400	Strong transcription	Ovary	ovary
15	chr11:8115800-8128800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:8115800-8129400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:8116000-8124600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:8116200-8125600	Weak transcription	Colonic Mucosa	Colon
19	chr11:8116200-8132000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:8117600-8124800	Strong transcription	Brain Germinal Matrix	brain
22	chr11:8117800-8124800	Strong transcription	Fetal Intestine Small	intestine
23	chr11:8117800-8126000	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:8117800-8126400	Strong transcription	Brain Anterior Caudate	brain
25	chr11:8117800-8126400	Strong transcription	Fetal Lung	lung
26	chr11:8117800-8128000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:8118000-8126800	Strong transcription	Adipose Nuclei	Adipose
28	chr11:8118000-8129400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:8118000-8132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:8118200-8123600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:8118200-8123600	Strong transcription	Colon Smooth Muscle	Colon
32	chr11:8118200-8124200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:8118200-8124400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:8118200-8124800	Strong transcription	Aorta	Aorta
35	chr11:8118200-8128600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:8118200-8128600	Strong transcription	Fetal Brain Female	brain
37	chr11:8118200-8132400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:8118400-8124600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:8118400-8124800	Strong transcription	Brain Cingulate Gyrus	brain
40	chr11:8118400-8125800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:8118400-8129600	Strong transcription	Fetal Stomach	stomach
42	chr11:8119400-8127200	Strong transcription	Left Ventricle	heart
43	chr11:8119600-8126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:8119800-8128800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:8120000-8124000	Strong transcription	Fetal Kidney	kidney
46	chr11:8120000-8125600	Strong transcription	Right Ventricle	heart
47	chr11:8120400-8132400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:8120600-8124000	Weak transcription	NHEK	skin
49	chr11:8120600-8124200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:8120600-8126200	Weak transcription	Muscle Satellite Cultured Cells	--

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