Variant report

Variant	rs12581892
Chromosome Location	chr12:120615806-120615807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120615719-120615885	K562	blood:	n/a	n/a
2	POLR2A	chr12:120615651-120616002	K562	blood:	n/a	n/a
3	POLR2A	chr12:120615577-120615988	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:120615511-120615880	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:120615512-120616834	K562	blood:	n/a	n/a
6	POLR2A	chr12:120615488-120615913	K562	blood:	n/a	n/a
7	POLR2A	chr12:120615552-120616974	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:120615635-120615930	K562	blood:	n/a	n/a
9	POLR2A	chr12:120615487-120615832	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120614885..120617842-chr12:120729498..120731481,2	K562	blood:
2	chr12:120612920..120617279-chr12:120727207..120731965,7	MCF-7	breast:
3	chr12:120615329..120617657-chr12:120728352..120730114,2	MCF-7	breast:
4	chr12:120609425..120611927-chr12:120614187..120616646,3	K562	blood:

No data

Variant related genes	Relation type
GCN1L1	TF binding region
ENSG00000263913	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16950051	1.00[MEX][hapmap]
rs2269940	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
2	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
3	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
6	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
7	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
8	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:120564400-120628600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:120564400-120631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:120564800-120618000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:120565000-120628800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:120565000-120630200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120565000-120630800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:120565200-120630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:120565400-120618000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:120565400-120628400	Strong transcription	Adipose Nuclei	Adipose
29	chr12:120565800-120625200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:120565800-120629400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:120565800-120630200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:120565800-120630400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:120571000-120621200	Weak transcription	Right Atrium	heart
34	chr12:120571200-120617800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:120571200-120628200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:120580400-120619600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120583200-120616400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:120594200-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:120594600-120630200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:120597800-120618800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:120601400-120628400	Strong transcription	Liver	Liver
42	chr12:120604400-120619000	Strong transcription	A549	lung
43	chr12:120604600-120619000	Strong transcription	Osteobl	bone
44	chr12:120604600-120630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:120604600-120630200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:120604800-120628200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:120605000-120617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:120605000-120618400	Strong transcription	Lung	lung
49	chr12:120605000-120628200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:120605000-120628400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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