Variant report

Variant	rs2286045
Chromosome Location	chr12:120589064-120589065
allele	C/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120589050..120592801-chr12:120631386..120634506,4	K562	blood:
2	chr12:120589064..120590793-chr12:120626859..120629130,2	K562	blood:
3	chr12:120587776..120590251-chr12:120726393..120729476,3	MCF-7	breast:
4	chr12:120580898..120582942-chr12:120588270..120591019,2	MCF-7	breast:
5	chr12:120585916..120589195-chr12:120646328..120649433,3	MCF-7	breast:
6	chr12:120587934..120590804-chr12:120729363..120731222,2	K562	blood:
7	chr12:120587934..120594600-chr12:120726818..120731222,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10437836	0.86[EUR][1000 genomes]
rs11065035	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065036	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11833158	0.90[EUR][1000 genomes]
rs11836049	0.86[EUR][1000 genomes]
rs12305184	0.91[EUR][1000 genomes]
rs12306075	0.91[EUR][1000 genomes]
rs12310433	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12312562	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320253	0.80[EUR][1000 genomes]
rs12578300	0.88[EUR][1000 genomes]
rs2074540	0.90[EUR][1000 genomes]
rs2238155	0.82[EUR][1000 genomes]
rs2240314	0.87[EUR][1000 genomes]
rs2240315	0.94[EUR][1000 genomes]
rs2240317	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240318	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240319	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240320	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240321	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240322	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240323	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240325	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2269940	0.92[EUR][1000 genomes]
rs2269941	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2269943	0.92[EUR][1000 genomes]
rs2269944	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269945	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2283362	0.85[EUR][1000 genomes]
rs2286043	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286044	0.88[EUR][1000 genomes]
rs2286049	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286050	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2286051	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3815210	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4522230	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57546423	0.84[EUR][1000 genomes]
rs57780521	0.82[EUR][1000 genomes]
rs59601514	0.92[EUR][1000 genomes]
rs60271600	0.90[EUR][1000 genomes]
rs7133235	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7134706	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7135914	0.89[EUR][1000 genomes]
rs7294892	0.83[EUR][1000 genomes]
rs7296380	0.81[ASN][1000 genomes]
rs7299429	0.90[EUR][1000 genomes]
rs7301660	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953741	0.87[EUR][1000 genomes]
rs7978061	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7978175	0.86[EUR][1000 genomes]
rs9630281	0.91[EUR][1000 genomes]
rs9651914	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120563000-120596800	Strong transcription	Stomach Smooth Muscle	stomach
2	chr12:120563000-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
4	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
5	chr12:120563200-120602800	Strong transcription	Brain Germinal Matrix	brain
6	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
9	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
10	chr12:120563600-120596400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120563600-120602400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:120563600-120603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:120563600-120603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:120563600-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
16	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:120563800-120602600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:120563800-120602600	Strong transcription	Primary T cells from cord blood	blood
25	chr12:120563800-120602600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr12:120563800-120602800	Strong transcription	Dnd41	blood
27	chr12:120563800-120603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:120564000-120603600	Strong transcription	Brain Angular Gyrus	brain
32	chr12:120564000-120603800	Strong transcription	Thymus	Thymus
33	chr12:120564200-120594200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120564400-120597000	Strong transcription	HepG2	liver
37	chr12:120564400-120602600	Strong transcription	Brain Hippocampus Middle	brain
38	chr12:120564400-120602600	Strong transcription	Placenta	Placenta
39	chr12:120564400-120602600	Strong transcription	HSMMtube	muscle
40	chr12:120564400-120603600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:120564400-120603600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr12:120564400-120603600	Strong transcription	Right Ventricle	heart
43	chr12:120564400-120628600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:120564400-120631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:120564600-120589800	Strong transcription	Esophagus	oesophagus
46	chr12:120564600-120602800	Strong transcription	Ovary	ovary
47	chr12:120564600-120603800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:120564600-120603800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:120564800-120618000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:120565000-120602600	Strong transcription	Aorta	Aorta

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