Variant report

Variant	rs3742055
Chromosome Location	chr12:46577893-46577894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46576985..46579984-chr12:46581597..46583636,2	K562	blood:
2	chr12:46575058..46579580-chr12:46659887..46664284,8	MCF-7	breast:
3	chr12:46577568..46579158-chr12:46579572..46581325,2	MCF-7	breast:
4	chr12:46575837..46582939-chr12:46590012..46593799,8	MCF-7	breast:
5	chr12:46550250..46552499-chr12:46577718..46580199,2	MCF-7	breast:
6	chr12:46558727..46560852-chr12:46575322..46578203,2	MCF-7	breast:
7	chr12:46571987..46573574-chr12:46577416..46579341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11183385	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12581511	0.94[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1822742	0.89[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742057	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv826360	chr12:46515374-46598243	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46562000-46578000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46565000-46581000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:46569000-46578600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46569000-46580600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:46569000-46589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:46572000-46578800	Enhancers	Fetal Intestine Small	intestine
7	chr12:46572200-46578000	Enhancers	Fetal Intestine Large	intestine
8	chr12:46572200-46578400	Weak transcription	Thymus	Thymus
9	chr12:46572200-46580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:46572200-46588200	Weak transcription	HUVEC	blood vessel
11	chr12:46572400-46578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:46572400-46578800	Weak transcription	Fetal Thymus	thymus
13	chr12:46572400-46580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:46572400-46588200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:46572600-46579600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:46572600-46581000	Weak transcription	Small Intestine	intestine
17	chr12:46572600-46589000	Weak transcription	Colonic Mucosa	Colon
18	chr12:46572600-46589000	Weak transcription	Dnd41	blood
19	chr12:46572800-46588800	Weak transcription	Aorta	Aorta
20	chr12:46573800-46579000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:46574000-46581200	Weak transcription	Left Ventricle	heart
22	chr12:46574000-46589000	Weak transcription	Lung	lung
23	chr12:46574200-46578800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:46574200-46581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:46574200-46582400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:46574200-46586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:46574200-46588400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:46574200-46588400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:46574200-46588800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:46574400-46579200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:46574400-46588800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:46574600-46578800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:46574600-46580000	Weak transcription	A549	lung
34	chr12:46574600-46584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:46574600-46588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:46574600-46588800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:46574800-46581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:46574800-46581000	Weak transcription	HMEC	breast
39	chr12:46574800-46582400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:46574800-46588000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:46574800-46588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:46575000-46581000	Weak transcription	Fetal Stomach	stomach
43	chr12:46575000-46588400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:46575400-46579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:46575600-46578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:46575600-46578400	Weak transcription	GM12878-XiMat	blood
47	chr12:46575600-46578600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:46575600-46581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:46575600-46581200	Weak transcription	Pancreas	Pancrea
50	chr12:46575800-46578600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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