Variant report

Variant	rs7948143
Chromosome Location	chr11:108566989-108566990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108562559..108564466-chr11:108566545..108568940,3	K562	blood:
2	chr11:108565072..108567285-chr11:108567349..108569590,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11212756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212775	0.83[AFR][1000 genomes]
rs12279185	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12281684	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6589030	1.00[AMR][1000 genomes]
rs73554972	0.82[AFR][1000 genomes]
rs7929960	0.89[AMR][1000 genomes]
rs7934946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951395	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
6	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
8	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
10	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:108549200-108577400	Weak transcription	Right Ventricle	heart
13	chr11:108554400-108577800	Weak transcription	Psoas Muscle	Psoas
14	chr11:108556200-108567000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:108556200-108567400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:108556200-108567800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:108558000-108578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:108559600-108567400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:108559800-108567600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:108560000-108567600	Strong transcription	Fetal Intestine Large	intestine
21	chr11:108560600-108574600	Weak transcription	Fetal Brain Female	brain
22	chr11:108560600-108577800	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:108561400-108571800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:108561600-108571800	Weak transcription	A549	lung
25	chr11:108561600-108575200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:108561600-108577400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:108561600-108578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:108561800-108569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:108561800-108569400	Weak transcription	Esophagus	oesophagus
30	chr11:108561800-108577600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:108561800-108577600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:108561800-108577800	Weak transcription	Brain Substantia Nigra	brain
33	chr11:108561800-108577800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:108561800-108579200	Weak transcription	Fetal Intestine Small	intestine
35	chr11:108561800-108579200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:108561800-108581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:108561800-108581400	Weak transcription	Gastric	stomach
38	chr11:108561800-108581400	Weak transcription	Thymus	Thymus
39	chr11:108561800-108581600	Weak transcription	Spleen	Spleen
40	chr11:108562000-108577400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:108563000-108581400	Weak transcription	Pancreas	Pancrea
42	chr11:108563600-108577600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:108564200-108570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:108564400-108577400	Weak transcription	Small Intestine	intestine
45	chr11:108564800-108569400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:108564800-108574600	Weak transcription	Fetal Lung	lung
47	chr11:108564800-108575000	Weak transcription	Aorta	Aorta
48	chr11:108564800-108575000	Weak transcription	Brain Anterior Caudate	brain
49	chr11:108564800-108576000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:108564800-108577200	Weak transcription	Rectal Mucosa Donor 31	rectum

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