Variant report

Variant	rs1472000
Chromosome Location	chr11:46465826-46465827
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46461604..46463369-chr11:46465505..46467389,2	K562	blood:
2	chr11:46449230..46453145-chr11:46464134..46466452,3	MCF-7	breast:
3	chr11:46461604..46464506-chr11:46464583..46467005,4	K562	blood:

Variant related genes	Relation type
ENSG00000244313	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11823766	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	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
2	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:46436600-46466400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:46440400-46466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46451400-46467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:46455200-46472200	Weak transcription	Ovary	ovary
7	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
8	chr11:46455400-46467400	Weak transcription	Stomach Mucosa	stomach
9	chr11:46455400-46492200	Weak transcription	A549	lung
10	chr11:46456400-46466800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:46456400-46467200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:46456400-46467200	Weak transcription	HMEC	breast
13	chr11:46456400-46468200	Weak transcription	Fetal Kidney	kidney
14	chr11:46456600-46469600	Weak transcription	Fetal Brain Female	brain
15	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
16	chr11:46456800-46468200	Weak transcription	NHLF	lung
17	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:46457200-46472400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:46457600-46467600	Weak transcription	Right Ventricle	heart
21	chr11:46457800-46470200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:46458000-46466800	Weak transcription	Fetal Heart	heart
23	chr11:46458200-46477200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:46458800-46467600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:46459400-46466800	Weak transcription	K562	blood
26	chr11:46460000-46467600	Weak transcription	HUVEC	blood vessel
27	chr11:46460200-46466800	Weak transcription	Right Atrium	heart
28	chr11:46460200-46467600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:46460200-46468000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:46460400-46467600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:46460600-46467600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:46460800-46472600	Weak transcription	Small Intestine	intestine
33	chr11:46461200-46466000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:46461200-46466000	Strong transcription	Dnd41	blood
35	chr11:46463000-46466200	Strong transcription	GM12878-XiMat	blood
36	chr11:46464000-46470000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:46464200-46467000	Weak transcription	Fetal Brain Male	brain
38	chr11:46464200-46467600	Weak transcription	Osteobl	bone
39	chr11:46464200-46468600	Weak transcription	Lung	lung
40	chr11:46464200-46472400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:46464200-46489200	Weak transcription	Thymus	Thymus
42	chr11:46464200-46489400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:46464400-46467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:46464400-46467600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:46464400-46489600	Weak transcription	Placenta	Placenta
47	chr11:46464600-46467600	Weak transcription	Aorta	Aorta
48	chr11:46464600-46468200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:46464600-46469000	Weak transcription	Pancreas	Pancrea
50	chr11:46464800-46467400	Weak transcription	Muscle Satellite Cultured Cells	--

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