Variant report

Variant	rs73304131
Chromosome Location	chr12:49493306-49493307
allele	C/T
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:9)
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	chr12:49493076-49493393	H1-neurons	neurons:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49490226..49493443-chr12:49495153..49498719,5	MCF-7	breast:
2	chr12:49490359..49493385-chr12:49523801..49526890,5	MCF-7	breast:
3	chr12:49490657..49493914-chr12:49521383..49526123,8	K562	blood:
4	chr12:49492241..49495096-chr12:49499639..49501320,2	MCF-7	breast:
5	chr12:49490859..49493804-chr12:49494511..49496220,3	K562	blood:
6	chr12:49490023..49493728-chr12:49522829..49525742,6	MCF-7	breast:
7	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
8	chr12:49490563..49493344-chr12:49659510..49661117,2	K562	blood:
9	chr12:49489085..49493906-chr12:49497574..49505715,14	K562	blood:

No data

Variant related genes	Relation type
DHH	TF binding region
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11168855	1.00[AMR][1000 genomes]
rs11168858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168871	1.00[AMR][1000 genomes]
rs12298540	1.00[AMR][1000 genomes]
rs12301841	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308383	1.00[AMR][1000 genomes]
rs12309311	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314634	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59178045	1.00[AMR][1000 genomes]
rs61539002	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61557154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 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	chr12:49482800-49499200	Weak transcription	Hela-S3	cervix
2	chr12:49488600-49493800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:49488600-49494000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:49489000-49493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:49489000-49493800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:49489000-49494000	Weak transcription	GM12878-XiMat	blood
7	chr12:49489000-49494800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:49489200-49498200	Weak transcription	Right Atrium	heart
9	chr12:49489400-49493800	Weak transcription	Stomach Mucosa	stomach
10	chr12:49489400-49496600	Strong transcription	Right Ventricle	heart
11	chr12:49489400-49499800	Strong transcription	Fetal Intestine Large	intestine
12	chr12:49489400-49501200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:49489400-49501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:49489600-49497400	Strong transcription	Adipose Nuclei	Adipose
15	chr12:49489600-49497800	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:49489600-49498400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:49489600-49498400	Strong transcription	Left Ventricle	heart
18	chr12:49489600-49498600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:49489600-49499400	Strong transcription	Fetal Intestine Small	intestine
20	chr12:49489600-49499600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:49489600-49500800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:49489600-49500800	Strong transcription	Thymus	Thymus
23	chr12:49489600-49501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:49489600-49502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:49489800-49493600	Weak transcription	Fetal Kidney	kidney
26	chr12:49489800-49493800	Weak transcription	Fetal Brain Male	brain
27	chr12:49489800-49497400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:49489800-49498600	Strong transcription	Brain Germinal Matrix	brain
29	chr12:49489800-49498800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:49489800-49499400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:49489800-49500000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:49489800-49500600	Strong transcription	Liver	Liver
33	chr12:49489800-49501000	Weak transcription	Fetal Heart	heart
34	chr12:49489800-49502000	Strong transcription	Fetal Stomach	stomach
35	chr12:49490000-49493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:49490000-49503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:49490200-49496400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:49490200-49497400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:49490200-49498200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:49490200-49499000	Strong transcription	Fetal Brain Female	brain
41	chr12:49490200-49501200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:49490400-49495200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:49490400-49498400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:49490400-49498400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr12:49490400-49498600	Strong transcription	Colon Smooth Muscle	Colon
46	chr12:49490400-49498800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:49490400-49498800	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:49490400-49499000	Strong transcription	Fetal Thymus	thymus
49	chr12:49490400-49499400	Strong transcription	Brain Anterior Caudate	brain
50	chr12:49490400-49499400	Strong transcription	Ovary	ovary

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