Variant report

Variant	rs7119553
Chromosome Location	chr11:46838937-46838938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46838312..46841025-chr11:46845017..46847859,4	K562	blood:
2	chr11:46835200..46837262-chr11:46837857..46839815,2	K562	blood:
3	chr11:46830883..46837323-chr11:46838185..46842346,7	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10734550	1.00[AMR][1000 genomes]
rs10769209	1.00[AMR][1000 genomes]
rs1585455	1.00[AMR][1000 genomes]
rs4268467	1.00[AMR][1000 genomes]
rs4417228	1.00[AMR][1000 genomes]
rs4472899	1.00[AMR][1000 genomes]
rs4752928	1.00[AMR][1000 genomes]
rs4752943	1.00[AMR][1000 genomes]
rs6485698	1.00[AMR][1000 genomes]
rs6485699	1.00[AMR][1000 genomes]
rs6485701	1.00[AMR][1000 genomes]
rs7106513	1.00[AMR][1000 genomes]
rs7111229	1.00[AMR][1000 genomes]
rs7111243	1.00[AMR][1000 genomes]
rs7119251	1.00[AMR][1000 genomes]
rs7128533	1.00[AMR][1000 genomes]
rs72550707	1.00[AMR][1000 genomes]
rs72550708	1.00[AMR][1000 genomes]
rs7950924	1.00[AMR][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	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3335996	chr11:46818751-46843532	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
8	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:46812000-46847600	Weak transcription	Right Ventricle	heart
11	chr11:46814600-46845800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:46815200-46847800	Weak transcription	Gastric	stomach
13	chr11:46816400-46847800	Weak transcription	Spleen	Spleen
14	chr11:46818800-46846800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:46819000-46847400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:46819200-46847600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:46819600-46847600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:46819600-46847800	Weak transcription	Pancreas	Pancrea
19	chr11:46819800-46847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:46820800-46847600	Weak transcription	Small Intestine	intestine
21	chr11:46821600-46847600	Weak transcription	Psoas Muscle	Psoas
22	chr11:46824200-46847600	Weak transcription	Right Atrium	heart
23	chr11:46824800-46841000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:46827000-46841800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:46827200-46840200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:46827400-46840400	Strong transcription	Fetal Thymus	thymus
27	chr11:46827400-46841200	Strong transcription	Hela-S3	cervix
28	chr11:46827600-46841000	Strong transcription	Dnd41	blood
29	chr11:46828600-46843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:46828800-46847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:46829400-46839000	Weak transcription	Fetal Heart	heart
32	chr11:46830400-46847400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:46830800-46839000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:46831200-46847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:46831400-46847400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:46831400-46847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:46831800-46846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:46831800-46846800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:46832000-46847000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:46832000-46848000	Weak transcription	Lung	lung
41	chr11:46832200-46847600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:46832400-46847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:46833800-46842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:46834000-46841600	Strong transcription	HepG2	liver
45	chr11:46834200-46839800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:46834400-46839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:46834400-46841200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:46834600-46847600	Weak transcription	Fetal Intestine Small	intestine
49	chr11:46834800-46840000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:46834800-46841600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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