Variant report

Variant	rs7302827
Chromosome Location	chr12:11872632-11872633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11871186..11873345-chr12:11883062..11884780,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10491988	1.00[EUR][1000 genomes]
rs11054431	1.00[EUR][1000 genomes]
rs12303444	1.00[EUR][1000 genomes]
rs12310333	1.00[EUR][1000 genomes]
rs13377661	1.00[EUR][1000 genomes]
rs2541134	1.00[JPT][hapmap]
rs2710267	1.00[EUR][1000 genomes]
rs2724598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2724602	1.00[EUR][1000 genomes]
rs2724637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2856340	1.00[EUR][1000 genomes]
rs57222202	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59302227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638501	1.00[AMR][1000 genomes]
rs7133092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288759	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3429989	chr12:11872404-11872935	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11865800-11872800	Genic enhancers	GM12878-XiMat	blood
7	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:11866800-11873200	Enhancers	Liver	Liver
9	chr12:11867000-11873200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:11867600-11873000	Enhancers	Left Ventricle	heart
11	chr12:11868400-11872800	Enhancers	Fetal Intestine Large	intestine
12	chr12:11868400-11873200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:11868400-11873600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:11868800-11873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:11869400-11873000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:11869400-11873200	Enhancers	Brain Anterior Caudate	brain
17	chr12:11869400-11873200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:11869400-11873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:11869400-11873400	Genic enhancers	Fetal Thymus	thymus
20	chr12:11869400-11873400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:11869400-11873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:11869400-11877400	Enhancers	HUVEC	blood vessel
23	chr12:11869600-11872800	Enhancers	Brain Hippocampus Middle	brain
24	chr12:11869600-11873000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:11869600-11873000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:11869600-11873200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:11869600-11873200	Enhancers	Colon Smooth Muscle	Colon
28	chr12:11869600-11873400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:11869800-11872800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:11869800-11872800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr12:11869800-11873000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:11869800-11873000	Enhancers	HMEC	breast
33	chr12:11869800-11873200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:11869800-11873200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:11869800-11873200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:11869800-11873200	Enhancers	NHDF-Ad	bronchial
37	chr12:11869800-11873400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:11869800-11873400	Enhancers	Fetal Heart	heart
39	chr12:11870000-11873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:11870000-11873000	Enhancers	Fetal Lung	lung
41	chr12:11870200-11873400	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:11870400-11873200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:11870400-11873400	Enhancers	NHLF	lung
45	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:11870600-11873000	Enhancers	Stomach Mucosa	stomach
47	chr12:11870600-11873200	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:11870600-11873400	Enhancers	NHEK	skin
49	chr12:11870600-11873600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:11870600-11875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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