Variant report

Variant	rs60574031
Chromosome Location	chr12:57074445-57074446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57072323..57076098-chr12:57080520..57083187,3	MCF-7	breast:
2	chr12:57035470..57039783-chr12:57074333..57078299,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11829496	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831054	0.82[EUR][1000 genomes]
rs11833209	0.88[AFR][1000 genomes]
rs11833254	0.85[AFR][1000 genomes]
rs11833282	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11837790	0.88[AFR][1000 genomes]
rs11838315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	0.82[EUR][1000 genomes]
rs17118901	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17118921	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118953	0.88[AFR][1000 genomes]
rs1800638	0.82[EUR][1000 genomes]
rs4262757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55962252	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258039	0.83[AFR][1000 genomes]
rs57406430	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136370	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7307573	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307578	0.82[EUR][1000 genomes]
rs74091637	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs74095026	0.82[EUR][1000 genomes]
rs7954160	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7958515	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7974103	0.82[EUR][1000 genomes]
rs7974600	0.82[EUR][1000 genomes]
rs7977632	0.86[AFR][1000 genomes];0.82[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
3	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57061400-57075000	Genic enhancers	A549	lung
6	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
7	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
10	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
11	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:57066200-57075600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:57066600-57077800	Weak transcription	Osteobl	bone
16	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:57067000-57074600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:57067000-57077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart
21	chr12:57067200-57077800	Weak transcription	Fetal Kidney	kidney
22	chr12:57067200-57077800	Weak transcription	HUVEC	blood vessel
23	chr12:57067200-57077800	Weak transcription	NHLF	lung
24	chr12:57068000-57077600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:57068200-57076000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:57068200-57077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:57068800-57075600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:57068800-57077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:57069000-57077200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:57069400-57074600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:57069400-57077200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:57069600-57077000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:57070000-57076000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:57070200-57077200	Strong transcription	Fetal Stomach	stomach
35	chr12:57070400-57074600	Weak transcription	NHEK	skin
36	chr12:57071600-57075400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:57071600-57076000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:57071800-57074800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:57071800-57077800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:57072200-57076000	Strong transcription	Fetal Intestine Small	intestine
41	chr12:57072200-57076400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:57072400-57075200	Strong transcription	HMEC	breast
43	chr12:57072400-57076200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:57072400-57076400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:57072400-57076800	Strong transcription	Thymus	Thymus
46	chr12:57072400-57077800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:57072400-57077800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:57072600-57074600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:57072600-57074600	Genic enhancers	Spleen	Spleen
50	chr12:57072600-57074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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