Variant report

Variant	rs1620
Chromosome Location	chr11:72720860-72720861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11235621	1.00[LWK][hapmap]
rs11235637	1.00[LWK][hapmap]
rs12418521	1.00[LWK][hapmap]
rs12808532	1.00[LWK][hapmap]
rs1460035	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs1807188	1.00[LWK][hapmap]
rs479093	1.00[GIH][hapmap];1.00[LWK][hapmap]
rs7937866	1.00[LWK][hapmap]

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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
3	chr11:72666600-72721600	Weak transcription	Lung	lung
4	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
6	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:72686600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:72687600-72722200	Weak transcription	NHLF	lung
9	chr11:72687600-72724200	Weak transcription	HMEC	breast
10	chr11:72688600-72721600	Weak transcription	Brain Germinal Matrix	brain
11	chr11:72693400-72721600	Weak transcription	Left Ventricle	heart
12	chr11:72696000-72724000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:72697000-72721600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:72699200-72721600	Weak transcription	HSMM	muscle
15	chr11:72701000-72721600	Weak transcription	Pancreas	Pancrea
16	chr11:72701000-72727200	Weak transcription	HUVEC	blood vessel
17	chr11:72701200-72721600	Weak transcription	Ovary	ovary
18	chr11:72705400-72721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:72705600-72721000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:72708400-72721600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:72711000-72721600	Weak transcription	Aorta	Aorta
22	chr11:72711200-72721600	Weak transcription	Osteobl	bone
23	chr11:72711200-72723000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:72713400-72721400	Weak transcription	Fetal Lung	lung
25	chr11:72715000-72723000	ZNF genes & repeats	GM12878-XiMat	blood
26	chr11:72716200-72731200	Weak transcription	Fetal Kidney	kidney
27	chr11:72716600-72721600	Weak transcription	Spleen	Spleen
28	chr11:72717600-72721600	Weak transcription	Gastric	stomach
29	chr11:72719200-72721000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:72719400-72721200	Weak transcription	HepG2	liver
31	chr11:72719600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:72719600-72723400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr11:72719600-72724400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:72719800-72722600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr11:72720000-72721600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:72720000-72731200	Weak transcription	Small Intestine	intestine
37	chr11:72720200-72721800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:72720400-72721800	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr11:72720400-72722200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr11:72720400-72722600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr11:72720400-72723000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:72720600-72721000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:72720600-72721800	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr11:72720600-72722000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr11:72720600-72722200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:72720600-72722400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr11:72720600-72722400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
48	chr11:72720600-72722400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr11:72720600-72722600	ZNF genes & repeats	A549	lung
50	chr11:72720600-72722600	ZNF genes & repeats	Dnd41	blood

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