Variant report

Variant	rs12814523
Chromosome Location	chr12:106896988-106896989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12814176	1.00[ASN][1000 genomes]
rs12815560	1.00[ASN][1000 genomes]
rs12827304	1.00[ASN][1000 genomes]
rs12831519	1.00[ASN][1000 genomes]
rs17217845	1.00[ASN][1000 genomes]
rs34826388	1.00[ASN][1000 genomes]
rs34855793	1.00[ASN][1000 genomes]
rs34956441	1.00[ASN][1000 genomes]
rs34998821	1.00[ASN][1000 genomes]
rs36010188	1.00[ASN][1000 genomes]
rs4964177	1.00[ASN][1000 genomes]
rs4964463	1.00[ASN][1000 genomes]
rs61941947	1.00[ASN][1000 genomes]
rs61941956	1.00[ASN][1000 genomes]
rs71452919	1.00[ASN][1000 genomes]
rs71452921	1.00[ASN][1000 genomes]
rs7316434	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106854400-106904800	Weak transcription	HSMM	muscle
3	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
4	chr12:106856800-106899400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:106865400-106897800	Weak transcription	Spleen	Spleen
6	chr12:106872600-106897800	Weak transcription	Psoas Muscle	Psoas
7	chr12:106884800-106899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:106886200-106916400	Weak transcription	A549	lung
9	chr12:106887600-106898000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:106887600-106907800	Weak transcription	Small Intestine	intestine
11	chr12:106887800-106900200	Weak transcription	Fetal Brain Male	brain
12	chr12:106888000-106899800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:106888200-106897800	Weak transcription	Fetal Brain Female	brain
14	chr12:106888200-106898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:106888200-106899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:106888200-106906800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:106888800-106900400	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:106889000-106899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:106889200-106897200	Weak transcription	Stomach Mucosa	stomach
20	chr12:106889200-106903200	Weak transcription	HMEC	breast
21	chr12:106889200-106904600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:106889200-106905400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:106889400-106899600	Strong transcription	Fetal Stomach	stomach
24	chr12:106889400-106904000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:106889400-106904600	Strong transcription	Liver	Liver
26	chr12:106889800-106899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:106889800-106899800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:106889800-106900200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106889800-106901600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:106890000-106904200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:106890200-106899200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:106890200-106899400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:106890400-106899800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:106890400-106901400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:106890600-106898000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:106890600-106899800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:106890800-106897800	Weak transcription	HSMMtube	muscle
38	chr12:106890800-106899800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:106890800-106905200	Weak transcription	Colonic Mucosa	Colon
40	chr12:106891200-106897600	Weak transcription	Osteobl	bone
41	chr12:106891200-106901600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:106891600-106897600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:106892000-106897800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:106892000-106900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:106892000-106904400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:106892000-106905200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:106892000-106906400	Weak transcription	Brain Angular Gyrus	brain
48	chr12:106892000-106907800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:106892200-106897400	Weak transcription	HepG2	liver
50	chr12:106892200-106899400	Weak transcription	HUVEC	blood vessel

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