Variant report

Variant	rs60946792
Chromosome Location	chr12:49179172-49179173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
2	chr12:49160841..49162680-chr12:49178634..49181167,2	MCF-7	breast:
3	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174233	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000264201	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3730067	0.84[AFR][1000 genomes]
rs73296137	1.00[AFR][1000 genomes];1.00[AMR][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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49159400-49181000	Weak transcription	Small Intestine	intestine
2	chr12:49160600-49180600	Weak transcription	Fetal Brain Male	brain
3	chr12:49163000-49180400	Weak transcription	Psoas Muscle	Psoas
4	chr12:49163000-49180600	Weak transcription	Hela-S3	cervix
5	chr12:49168400-49181400	Weak transcription	Fetal Kidney	kidney
6	chr12:49169800-49180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:49169800-49180400	Weak transcription	HepG2	liver
8	chr12:49169800-49181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:49170000-49180800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:49171200-49180800	Weak transcription	Brain Angular Gyrus	brain
11	chr12:49171600-49180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:49172200-49181600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:49172400-49180800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:49172400-49181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:49174400-49180600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:49174600-49180600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:49174600-49180800	Weak transcription	HSMM	muscle
18	chr12:49174600-49181000	Weak transcription	HSMMtube	muscle
19	chr12:49174800-49180600	Weak transcription	Osteobl	bone
20	chr12:49174800-49181200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:49174800-49181200	Weak transcription	HUVEC	blood vessel
22	chr12:49175200-49180600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:49175400-49179800	Weak transcription	NHDF-Ad	bronchial
24	chr12:49175400-49180200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:49175400-49180600	Weak transcription	HMEC	breast
26	chr12:49175800-49180800	Weak transcription	NH-A	brain
27	chr12:49175800-49181600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:49176200-49180800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:49176200-49181200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:49176400-49180400	Weak transcription	Stomach Mucosa	stomach
31	chr12:49176400-49181000	Weak transcription	NHEK	skin
32	chr12:49176600-49180200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:49176600-49180400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:49176600-49180800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:49176800-49180000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:49176800-49180400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:49176800-49180400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:49176800-49180600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:49176800-49180600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:49177000-49179600	Weak transcription	Brain Germinal Matrix	brain
41	chr12:49177000-49179800	Weak transcription	Aorta	Aorta
42	chr12:49177000-49179800	Weak transcription	Pancreas	Pancrea
43	chr12:49177000-49179800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:49177000-49180200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:49177000-49180600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:49177000-49181000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:49177000-49181000	Weak transcription	NHLF	lung
48	chr12:49177200-49179600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:49177200-49179800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:49177200-49179800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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