Variant report

Variant	rs4964439
Chromosome Location	chr12:106501450-106501451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106494133..106496771-chr12:106501271..106503780,3	MCF-7	breast:
2	chr12:106488784..106491367-chr12:106500310..106501960,2	MCF-7	breast:
3	chr12:106499587..106502262-chr12:106509960..106512334,2	MCF-7	breast:
4	chr12:106500371..106501923-chr12:106505629..106508157,2	MCF-7	breast:
5	chr12:106495439..106497630-chr12:106499867..106501572,2	MCF-7	breast:
6	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257438	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10778458	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112866	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1896364	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3782692	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55657928	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73193855	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7485023	0.81[AMR][1000 genomes];0.93[EUR][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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106492000-106504400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
5	chr12:106499200-106502000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:106499400-106503800	Enhancers	Brain Germinal Matrix	brain
7	chr12:106499400-106504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:106499400-106505400	Enhancers	Fetal Intestine Small	intestine
9	chr12:106499600-106502000	Flanking Active TSS	Fetal Heart	heart
10	chr12:106499600-106502800	Enhancers	Colon Smooth Muscle	Colon
11	chr12:106499600-106503000	Enhancers	Fetal Kidney	kidney
12	chr12:106499600-106503000	Enhancers	Ovary	ovary
13	chr12:106499600-106503200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:106499600-106503200	Enhancers	Fetal Muscle Leg	muscle
15	chr12:106499600-106503400	Enhancers	Psoas Muscle	Psoas
16	chr12:106499600-106503600	Enhancers	Brain Anterior Caudate	brain
17	chr12:106499600-106503600	Enhancers	Hela-S3	cervix
18	chr12:106499600-106503800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:106499600-106504200	Enhancers	Fetal Brain Male	brain
20	chr12:106499600-106504600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:106499600-106505000	Enhancers	Fetal Intestine Large	intestine
22	chr12:106499600-106505000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:106499600-106505200	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:106499800-106501800	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:106499800-106503200	Enhancers	NH-A	brain
27	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
29	chr12:106500000-106501800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:106500000-106503000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:106500000-106503400	Enhancers	Osteobl	bone
32	chr12:106500000-106503800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:106500000-106503800	Enhancers	Fetal Lung	lung
34	chr12:106500000-106506200	Enhancers	NHEK	skin
35	chr12:106500000-106507000	Enhancers	Adipose Nuclei	Adipose
36	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:106500200-106501600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:106500200-106501800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:106500200-106502000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:106500200-106502400	Enhancers	NHLF	lung
42	chr12:106500200-106502800	Enhancers	Fetal Stomach	stomach
43	chr12:106500200-106502800	Enhancers	NHDF-Ad	bronchial
44	chr12:106500200-106503600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:106500200-106503600	Enhancers	Aorta	Aorta
46	chr12:106500200-106505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:106500200-106514000	Enhancers	Liver	Liver
50	chr12:106500400-106501600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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