Variant report

Variant	rs73466080
Chromosome Location	chr11:46469482-46469483
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	chr11:46468408..46470921-chr11:46496767..46499525,2	K562	blood:
2	chr11:46468131..46471544-chr11:46473469..46477776,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60890473	1.00[AFR][1000 genomes]
rs61493022	1.00[AFR][1000 genomes]
rs73449978	1.00[AFR][1000 genomes]
rs73454020	1.00[AFR][1000 genomes]
rs73454028	1.00[AFR][1000 genomes]
rs73466042	1.00[AFR][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	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
3	esv3417612	chr11:46469279-46469491	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46455200-46472200	Weak transcription	Ovary	ovary
2	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
3	chr11:46455400-46492200	Weak transcription	A549	lung
4	chr11:46456600-46469600	Weak transcription	Fetal Brain Female	brain
5	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
6	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:46457200-46472400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:46457800-46470200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:46458200-46477200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:46460800-46472600	Weak transcription	Small Intestine	intestine
12	chr11:46464000-46470000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:46464200-46472400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:46464200-46489200	Weak transcription	Thymus	Thymus
15	chr11:46464200-46489400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:46464400-46489600	Weak transcription	Placenta	Placenta
18	chr11:46464800-46478600	Weak transcription	Spleen	Spleen
19	chr11:46464800-46479000	Weak transcription	NHEK	skin
20	chr11:46465000-46470000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:46465000-46472400	Weak transcription	NH-A	brain
22	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:46465200-46471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:46465200-46474600	Weak transcription	Fetal Intestine Small	intestine
25	chr11:46465200-46475200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:46465200-46479200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:46465200-46479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:46465200-46489200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:46465200-46489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:46465200-46489400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:46465200-46489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:46465200-46494600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:46465400-46472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:46465400-46476600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:46465400-46483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:46465400-46489400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:46465600-46472200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:46465600-46472600	Weak transcription	Fetal Intestine Large	intestine
40	chr11:46465600-46476800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:46465600-46489400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:46465800-46472400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:46465800-46474400	Weak transcription	HepG2	liver
45	chr11:46465800-46476800	Weak transcription	Fetal Thymus	thymus
46	chr11:46465800-46478200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:46465800-46486800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:46466000-46488800	Weak transcription	Dnd41	blood
49	chr11:46466200-46496200	Weak transcription	GM12878-XiMat	blood
50	chr11:46466400-46469600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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