Variant report

Variant	rs1131514
Chromosome Location	chr12:57133140-57133141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57130745..57133268-chr12:57135239..57137445,2	K562	blood:
2	chr12:57127883..57130911-chr12:57131858..57134742,3	K562	blood:
3	chr12:57117542..57119619-chr12:57131721..57134140,2	K562	blood:
4	chr12:57118862..57121047-chr12:57132771..57134870,2	MCF-7	breast:
5	chr12:57130745..57133569-chr12:57135239..57138151,3	K562	blood:

Variant related genes	Relation type
ENSG00000198056	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1026565	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459246	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747769	0.81[EUR][1000 genomes]
rs10747770	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876916	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10876918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171951	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171956	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227117	0.86[ASN][1000 genomes]
rs12828563	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466382	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1563897	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1975875	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979325	0.94[ASN][1000 genomes]
rs2035081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2035082	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290893	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2290894	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926741	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926743	0.94[ASN][1000 genomes]
rs2926747	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958132	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958134	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2958148	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958149	0.90[ASN][1000 genomes]
rs3214051	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4759256	0.94[ASN][1000 genomes]
rs4788	0.93[ASN][1000 genomes]
rs4902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137749	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295862	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7313074	0.94[ASN][1000 genomes]
rs7966391	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967600	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978685	0.93[ASN][1000 genomes]
rs7980317	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980835	0.81[EUR][1000 genomes]
rs898609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs898611	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57119400-57134000	Weak transcription	Esophagus	oesophagus
2	chr12:57119400-57138000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:57119400-57145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57119800-57134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57119800-57134000	Weak transcription	Left Ventricle	heart
6	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:57119800-57144800	Weak transcription	NHLF	lung
8	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
9	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
10	chr12:57120000-57133200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:57120000-57134200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:57120000-57134200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:57120000-57134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:57120000-57137200	Weak transcription	NHEK	skin
15	chr12:57120000-57138400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:57120000-57140400	Weak transcription	HUVEC	blood vessel
17	chr12:57120000-57144400	Weak transcription	Fetal Brain Male	brain
18	chr12:57120000-57144600	Weak transcription	NHDF-Ad	bronchial
19	chr12:57120000-57144800	Weak transcription	Fetal Heart	heart
20	chr12:57120000-57144800	Weak transcription	Fetal Kidney	kidney
21	chr12:57120000-57144800	Weak transcription	NH-A	brain
22	chr12:57120000-57145000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:57120000-57145200	Weak transcription	Aorta	Aorta
24	chr12:57120200-57137800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:57120200-57144800	Weak transcription	Osteobl	bone
26	chr12:57120200-57145000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:57120400-57144000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:57120600-57144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57120800-57136400	Strong transcription	Fetal Stomach	stomach
30	chr12:57120800-57143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:57120800-57144000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:57121200-57143800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:57121400-57144200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:57121400-57144600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:57122000-57143000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:57122000-57144000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:57122200-57143600	Strong transcription	Fetal Thymus	thymus
38	chr12:57122400-57141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:57122400-57142400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:57122400-57143800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr12:57122400-57144200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:57122600-57142000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:57122800-57142000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:57123000-57140800	Strong transcription	Dnd41	blood
45	chr12:57123000-57142800	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:57123200-57136400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr12:57123200-57142000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:57123600-57141000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:57123600-57144200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:57124400-57140800	Strong transcription	H9 Cell Line	embryonic stem cell

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