Variant report

Variant	rs61231969
Chromosome Location	chr12:123748216-123748217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123717253..123719001-chr12:123746538..123748497,2	K562	blood:
2	chr12:123740880..123744807-chr12:123747455..123750621,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10732573	0.95[ASN][1000 genomes]
rs10734901	0.95[ASN][1000 genomes]
rs10744150	0.86[ASN][1000 genomes]
rs10744151	0.89[ASN][1000 genomes]
rs10772997	0.89[ASN][1000 genomes]
rs10772999	0.92[ASN][1000 genomes]
rs10773002	1.00[ASN][1000 genomes]
rs11057202	0.89[ASN][1000 genomes]
rs11057205	0.92[ASN][1000 genomes]
rs11057207	0.92[ASN][1000 genomes]
rs11057209	0.94[ASN][1000 genomes]
rs11554169	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1568427	0.95[ASN][1000 genomes]
rs1609520	0.89[ASN][1000 genomes]
rs1727331	0.87[ASN][1000 genomes]
rs1727332	0.83[ASN][1000 genomes]
rs1969355	0.93[ASN][1000 genomes]
rs1980251	0.95[ASN][1000 genomes]
rs2090764	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28362667	0.83[ASN][1000 genomes]
rs28362669	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs36121382	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3759111	0.89[AFR][1000 genomes]
rs3759114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4474478	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4474479	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4594040	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4759367	0.89[AFR][1000 genomes]
rs4759372	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4759406	0.89[AFR][1000 genomes]
rs4759407	0.89[AFR][1000 genomes]
rs4759408	0.83[ASN][1000 genomes]
rs4759411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4759413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759414	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57676984	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs60077920	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs60254089	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60296110	0.89[AFR][1000 genomes]
rs61187102	0.83[AFR][1000 genomes]
rs61519741	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7137286	0.92[ASN][1000 genomes]
rs7304782	0.89[ASN][1000 genomes]
rs7486723	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:123735200-123751800	Strong transcription	Fetal Stomach	stomach
3	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
4	chr12:123736000-123752200	Strong transcription	Dnd41	blood
5	chr12:123736200-123751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:123736400-123750600	Strong transcription	Fetal Lung	lung
7	chr12:123736400-123752200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:123736400-123752600	Strong transcription	NHLF	lung
9	chr12:123737000-123753000	Strong transcription	Fetal Intestine Small	intestine
10	chr12:123737200-123752000	Strong transcription	A549	lung
11	chr12:123737400-123749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:123738000-123749200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:123738000-123749200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:123738000-123749600	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:123738000-123749600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:123738000-123750400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:123738000-123751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:123738000-123751200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:123738000-123751800	Strong transcription	Liver	Liver
20	chr12:123738000-123751800	Strong transcription	Fetal Intestine Large	intestine
21	chr12:123738000-123752000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:123738000-123752000	Strong transcription	HUVEC	blood vessel
23	chr12:123738000-123752600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:123738000-123752800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr12:123738200-123748400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:123738200-123751800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:123738200-123752000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:123738400-123748400	Strong transcription	NH-A	brain
29	chr12:123738600-123752200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:123738800-123749800	Strong transcription	HSMMtube	muscle
31	chr12:123739000-123748600	Strong transcription	HSMM	muscle
32	chr12:123739000-123749400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:123739000-123751600	Strong transcription	Placenta	Placenta
34	chr12:123739200-123748400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:123739200-123751800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:123739200-123752600	Weak transcription	Psoas Muscle	Psoas
37	chr12:123739200-123753000	Weak transcription	Right Atrium	heart
38	chr12:123739200-123753200	Weak transcription	Fetal Heart	heart
39	chr12:123739200-123754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:123739400-123751800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:123739800-123748400	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:123739800-123749400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:123739800-123751400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:123739800-123752400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:123739800-123753200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:123740000-123749200	Strong transcription	Fetal Brain Female	brain
47	chr12:123740000-123753600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:123741000-123752200	Strong transcription	Osteobl	bone
49	chr12:123741000-123753600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:123742000-123748400	Strong transcription	Left Ventricle	heart

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