Variant report

Variant	rs74098643
Chromosome Location	chr12:65120077-65120078
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	chr12:65118320..65120972-chr12:65132835..65135195,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17100619	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100621	0.80[AFR][1000 genomes]
rs2230292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56953843	1.00[AMR][1000 genomes]
rs74098127	1.00[AMR][1000 genomes]
rs74099656	0.96[AFR][1000 genomes]
rs74099664	0.90[AFR][1000 genomes]
rs74099673	0.81[AFR][1000 genomes]
rs74099678	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65103400-65123000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:65104800-65120800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:65105800-65122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:65106200-65122800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:65106200-65122800	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:65106400-65123800	Strong transcription	Liver	Liver
7	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:65106600-65125800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:65106800-65123000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:65107600-65122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:65108400-65123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:65108400-65127400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:65109400-65121000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:65109600-65122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:65110600-65138400	Weak transcription	Stomach Mucosa	stomach
16	chr12:65111000-65127200	Weak transcription	Hela-S3	cervix
17	chr12:65111400-65122800	Strong transcription	Fetal Intestine Small	intestine
18	chr12:65111600-65146800	Strong transcription	Fetal Intestine Large	intestine
19	chr12:65112400-65121800	Strong transcription	Fetal Brain Female	brain
20	chr12:65112800-65123200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:65113000-65124000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:65113400-65123600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:65113800-65123400	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:65114200-65124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:65114400-65122600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:65115000-65123800	Weak transcription	GM12878-XiMat	blood
27	chr12:65115000-65130000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:65115400-65121600	Strong transcription	Adipose Nuclei	Adipose
29	chr12:65115400-65127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:65115600-65123800	Weak transcription	HUVEC	blood vessel
31	chr12:65115600-65127800	Weak transcription	Esophagus	oesophagus
32	chr12:65115600-65132000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:65116400-65123800	Weak transcription	K562	blood
34	chr12:65116400-65124600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:65116600-65123800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:65116800-65122200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:65116800-65124600	Weak transcription	NHLF	lung
38	chr12:65116800-65127200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:65116800-65127200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:65116800-65127600	Weak transcription	NH-A	brain
41	chr12:65116800-65127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:65117000-65120800	Weak transcription	HSMM	muscle
43	chr12:65117000-65126600	Weak transcription	Fetal Thymus	thymus
44	chr12:65117000-65127200	Weak transcription	Colonic Mucosa	Colon
45	chr12:65117000-65127200	Weak transcription	HepG2	liver
46	chr12:65117000-65127200	Weak transcription	NHEK	skin
47	chr12:65117000-65127400	Weak transcription	Thymus	Thymus
48	chr12:65117000-65127600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:65117000-65128200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:65117000-65129800	Weak transcription	H9 Cell Line	embryonic stem cell

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