Variant report

Variant	rs12185728
Chromosome Location	chr2:11296969-11296970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11296019..11298621-chr2:11300609..11302864,3	K562	blood:
2	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
3	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
4	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
5	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
6	chr12:92538292..92539809-chr2:11295819..11297319,2	K562	blood:
7	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:
8	chr2:11295929..11299678-chr2:11300609..11303606,5	K562	blood:
9	chr2:11295159..11297169-chr2:11486526..11488952,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150873	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10183455	0.92[AMR][1000 genomes]
rs10183461	0.92[AMR][1000 genomes]
rs34558207	0.95[AMR][1000 genomes]
rs35208606	0.95[AMR][1000 genomes]
rs7601432	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11297000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11296200-11297000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:11296200-11297000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:11296200-11298200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:11296200-11298200	Enhancers	Lung	lung
6	chr2:11296200-11298200	Enhancers	Spleen	Spleen
7	chr2:11296200-11299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11296200-11329400	Weak transcription	Gastric	stomach
9	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
10	chr2:11296400-11297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:11296400-11297000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:11296400-11297000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:11296400-11297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:11296400-11297000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:11296400-11297000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr2:11296400-11297000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:11296400-11297200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:11296400-11297200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:11296400-11297200	Bivalent Enhancer	HepG2	liver
20	chr2:11296400-11297400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:11296400-11297400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:11296400-11297400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:11296400-11297400	Weak transcription	Right Atrium	heart
24	chr2:11296400-11297600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:11296400-11297600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:11296400-11297600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:11296400-11297600	Enhancers	Right Ventricle	heart
28	chr2:11296400-11297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:11296400-11297800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:11296400-11297800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:11296400-11298200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr2:11296400-11298200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:11296400-11298200	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:11296400-11298200	Enhancers	Fetal Brain Male	brain
35	chr2:11296400-11301000	Weak transcription	GM12878-XiMat	blood
36	chr2:11296400-11303600	Weak transcription	HSMMtube	muscle
37	chr2:11296400-11306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:11296400-11307200	Weak transcription	Thymus	Thymus
39	chr2:11296400-11308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:11296400-11309600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:11296400-11314200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:11296400-11314800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:11296400-11315200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:11296400-11315200	Weak transcription	Brain Substantia Nigra	brain
45	chr2:11296400-11315400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:11296400-11318800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:11296600-11297000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:11296600-11297200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:11296600-11297200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:11296600-11297200	Active TSS	Stomach Smooth Muscle	stomach

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