Variant report

Variant	rs57406430
Chromosome Location	chr12:57067496-57067497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57067457-57068181	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57038172..57039913-chr12:57066902..57070182,3	MCF-7	breast:
2	chr12:57062507..57064037-chr12:57065872..57067801,2	K562	blood:
3	chr12:57066002..57068436-chr12:57117289..57119149,2	MCF-7	breast:
4	chr12:57065416..57068047-chr12:57082190..57083976,3	MCF-7	breast:
5	chr12:57067309..57072885-chr12:57076964..57083697,11	K562	blood:

No data

Variant related genes	Relation type
RN7SL809P	TF binding region
ENSG00000110958	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10876912	0.84[EUR][1000 genomes]
rs11171909	0.84[EUR][1000 genomes]
rs11171910	0.84[EUR][1000 genomes]
rs11829496	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11831054	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833282	0.86[AFR][1000 genomes]
rs11838315	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12312913	0.84[EUR][1000 genomes]
rs12314491	0.84[EUR][1000 genomes]
rs12321649	0.84[EUR][1000 genomes]
rs1527140	0.84[EUR][1000 genomes]
rs17118865	1.00[EUR][1000 genomes]
rs17118901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118921	0.82[EUR][1000 genomes]
rs17444925	0.91[EUR][1000 genomes]
rs17541679	0.91[EUR][1000 genomes]
rs1800638	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4262757	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55962252	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56258039	0.87[AMR][1000 genomes]
rs59711560	0.84[EUR][1000 genomes]
rs60574031	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136370	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307573	0.82[EUR][1000 genomes]
rs7307578	1.00[EUR][1000 genomes]
rs74091637	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095026	1.00[EUR][1000 genomes]
rs7954160	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956952	0.91[EUR][1000 genomes]
rs7958515	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974103	1.00[EUR][1000 genomes]
rs7974600	1.00[EUR][1000 genomes]
rs7977632	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941210	0.84[EUR][1000 genomes]
rs9738534	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
2	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
5	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57055600-57068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:57056000-57068000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:57056000-57069200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:57056400-57068000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:57056400-57068200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:57056400-57068200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:57056600-57068000	Strong transcription	GM12878-XiMat	blood
14	chr12:57056800-57067800	Strong transcription	Dnd41	blood
15	chr12:57056800-57068200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:57056800-57068200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:57056800-57068200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:57056800-57068200	Strong transcription	HSMM	muscle
19	chr12:57057600-57068200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr12:57058000-57070400	Weak transcription	Psoas Muscle	Psoas
21	chr12:57058800-57068200	Strong transcription	Fetal Lung	lung
22	chr12:57061400-57075000	Genic enhancers	A549	lung
23	chr12:57062000-57068000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:57062400-57068400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:57063400-57068200	Strong transcription	Primary B cells from cord blood	blood
26	chr12:57064600-57070200	Weak transcription	Fetal Brain Male	brain
27	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
28	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:57065000-57072400	Weak transcription	Brain Angular Gyrus	brain
30	chr12:57065000-57072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
33	chr12:57065200-57067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:57065200-57067600	Weak transcription	NHEK	skin
35	chr12:57065200-57068000	Strong transcription	K562	blood
36	chr12:57065200-57069000	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:57065200-57069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:57065200-57069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:57065200-57069400	Weak transcription	Gastric	stomach
40	chr12:57065200-57069400	Weak transcription	Ovary	ovary
41	chr12:57065200-57069400	Weak transcription	Right Ventricle	heart
42	chr12:57065200-57069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:57065200-57069400	Weak transcription	Thymus	Thymus
44	chr12:57065200-57070400	Weak transcription	Spleen	Spleen
45	chr12:57065200-57072400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:57065200-57072600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:57065200-57072600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:57065200-57072600	Weak transcription	Esophagus	oesophagus
49	chr12:57065200-57072600	Weak transcription	Lung	lung
50	chr12:57065200-57074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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