Variant report

Variant	rs12284782
Chromosome Location	chr11:75544404-75544405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75542965..75545521-chr11:75546194..75548831,2	K562	blood:
2	chr11:75542621..75546363-chr11:75550755..75554633,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200256	Chromatin interaction
ENSG00000199362	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1458837	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:75528400-75561600	Weak transcription	HSMM	muscle
5	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
7	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
8	chr11:75528600-75563600	Weak transcription	Dnd41	blood
9	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:75532200-75551000	Weak transcription	NHEK	skin
11	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:75533600-75549000	Weak transcription	K562	blood
13	chr11:75534800-75549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:75535000-75547200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:75535400-75545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:75535400-75550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:75535600-75550800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:75535600-75556200	Weak transcription	A549	lung
21	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:75537000-75547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:75537000-75548800	Weak transcription	Fetal Stomach	stomach
24	chr11:75537600-75549000	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:75538000-75551400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:75538000-75563000	Weak transcription	HepG2	liver
27	chr11:75538200-75548800	Weak transcription	Fetal Intestine Small	intestine
28	chr11:75538200-75551400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:75538400-75546800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:75538600-75567600	Weak transcription	Placenta	Placenta
31	chr11:75538800-75546400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:75538800-75551000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:75539200-75547200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:75539200-75547600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:75539200-75551000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:75539600-75549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:75539600-75550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:75540200-75561000	Weak transcription	Lung	lung
40	chr11:75540400-75547400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:75540600-75551000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:75540800-75547200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:75540800-75550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:75541800-75548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:75542200-75546800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:75542200-75548600	Weak transcription	HUVEC	blood vessel
47	chr11:75542200-75549400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:75542800-75561800	Weak transcription	Fetal Thymus	thymus
49	chr11:75543000-75547200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:75543200-75546000	Weak transcription	Monocytes-CD14+_RO01746	blood

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