Variant report

Variant	rs1492888
Chromosome Location	chr12:46660508-46660509
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46658442..46662665-chr12:46774451..46778723,6	K562	blood:
2	chr12:46122734..46124564-chr12:46660289..46662102,2	K562	blood:
3	chr12:46590494..46598595-chr12:46658954..46664180,10	MCF-7	breast:
4	chr12:46613955..46615802-chr12:46659789..46661302,2	MCF-7	breast:
5	chr12:46656458..46664971-chr12:46763618..46767965,19	MCF-7	breast:
6	chr12:46659532..46664131-chr12:46762494..46766775,7	K562	blood:
7	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
8	chr12:46658898..46664029-chr12:46756711..46760586,4	K562	blood:
9	chr12:46383984..46386304-chr12:46660462..46663011,4	MCF-7	breast:
10	chr12:46658047..46664131-chr12:46762494..46767686,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000189079	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12833767	0.81[MKK][hapmap]
rs4768109	0.82[CHB][hapmap]
rs4768697	0.81[MKK][hapmap]
rs973988	0.86[CHB][hapmap]

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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1492888	RP11-96H19.1	cis	Nerve Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
2	chr12:46654600-46661000	Weak transcription	Spleen	Spleen
3	chr12:46656000-46660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46656000-46660600	Weak transcription	Lung	lung
5	chr12:46658000-46662600	Active TSS	Right Ventricle	heart
6	chr12:46658600-46660800	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr12:46658600-46660800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr12:46658800-46660600	Active TSS	Placenta	Placenta
9	chr12:46658800-46660800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:46658800-46664200	Active TSS	Placenta Amnion	Placenta Amnion
11	chr12:46659000-46660600	Enhancers	Pancreas	Pancrea
12	chr12:46659000-46663400	Active TSS	Left Ventricle	heart
13	chr12:46659200-46660600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:46659200-46661200	Transcr. at gene 5' and 3'	NHEK	skin
15	chr12:46659400-46660600	Flanking Active TSS	Thymus	Thymus
16	chr12:46659400-46660800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:46659400-46664200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:46659400-46664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:46659600-46660600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:46659600-46660600	Enhancers	Brain Substantia Nigra	brain
21	chr12:46659600-46660600	Flanking Active TSS	A549	lung
22	chr12:46659600-46660800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:46659600-46660800	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr12:46659600-46661000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:46659600-46661200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:46659600-46661600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:46659600-46661800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46659600-46661800	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:46659600-46664000	Active TSS	Brain Angular Gyrus	brain
30	chr12:46659800-46660600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:46659800-46660600	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr12:46659800-46660600	Active TSS	Fetal Stomach	stomach
33	chr12:46659800-46660600	Weak transcription	Small Intestine	intestine
34	chr12:46659800-46660800	Transcr. at gene 5' and 3'	K562	blood
35	chr12:46659800-46661000	Active TSS	Colonic Mucosa	Colon
36	chr12:46659800-46661000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr12:46659800-46661000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:46659800-46661200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:46659800-46661200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:46659800-46661200	Flanking Active TSS	HUVEC	blood vessel
41	chr12:46659800-46663600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:46659800-46663600	Active TSS	Brain Hippocampus Middle	brain
43	chr12:46659800-46663600	Active TSS	Psoas Muscle	Psoas
44	chr12:46659800-46663600	Active TSS	HSMM	muscle
45	chr12:46659800-46664000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:46659800-46664200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr12:46659800-46664200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:46659800-46664200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:46660000-46660600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr12:46660000-46660600	Active TSS	Fetal Muscle Trunk	muscle

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