Variant report

Variant	rs12282981
Chromosome Location	chr11:36475722-36475723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:36475281-36475743	HL-60	blood:	n/a	n/a
2	TAL1	chr11:36475590-36475849	K562	blood:	n/a	n/a
3	MAZ	chr11:36475403-36475829	K562	blood:	n/a	n/a
4	ATF1	chr11:36475482-36475750	K562	blood:	n/a	n/a
5	FOXA2	chr11:36475100-36475782	A549	lung:	n/a	n/a
6	BHLHE40	chr11:36475658-36475791	K562	blood:	n/a	n/a
7	FOXA2	chr11:36475139-36475723	A549	lung:	n/a	n/a
8	EP300	chr11:36475721-36475730	K562	blood:	n/a	n/a
9	POLR2A	chr11:36475226-36478437	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

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

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

rs_ID	r²[population]
rs890258	0.84[EUR][1000 genomes]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
6	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
9	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
10	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:36471200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:36471400-36475800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:36471600-36475800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:36471600-36478400	Genic enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:36471800-36506800	Weak transcription	Gastric	stomach
17	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
18	chr11:36472000-36475800	Enhancers	Thymus	Thymus
19	chr11:36472000-36476400	Weak transcription	Fetal Brain Female	brain
20	chr11:36472000-36477800	Enhancers	Fetal Lung	lung
21	chr11:36472200-36475800	Enhancers	Primary T cells from cord blood	blood
22	chr11:36472200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:36472600-36477600	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:36472800-36476000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:36473000-36488000	Weak transcription	Liver	Liver
26	chr11:36473200-36478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:36473400-36476600	Enhancers	Dnd41	blood
29	chr11:36473400-36477000	Enhancers	HSMM	muscle
30	chr11:36473400-36477600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:36473400-36477600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:36473600-36476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:36473600-36478200	Enhancers	Osteobl	bone
34	chr11:36473600-36478600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:36473600-36478800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:36473600-36478800	Enhancers	Placenta	Placenta
37	chr11:36473800-36475800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:36473800-36476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:36473800-36476400	Genic enhancers	Spleen	Spleen
40	chr11:36473800-36477000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:36473800-36478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:36473800-36478600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:36473800-36478600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:36473800-36478600	Enhancers	Right Atrium	heart
45	chr11:36473800-36478800	Enhancers	Ovary	ovary
46	chr11:36474000-36475800	Enhancers	Fetal Muscle Leg	muscle
47	chr11:36474000-36476000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36474000-36476200	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:36474000-36477800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:36474000-36478400	Enhancers	Brain Substantia Nigra	brain

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