Variant report

Variant	rs10850632
Chromosome Location	chr12:116865916-116865917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:12961921..12963741-chr12:116863676..116865934,2	MCF-7	breast:
2	chr12:116713061..116717108-chr12:116860033..116868382,13	MCF-7	breast:
3	chr12:116713188..116716482-chr12:116864125..116866689,4	MCF-7	breast:
4	chr12:116847212..116851109-chr12:116861228..116866038,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10744874	0.80[EUR][1000 genomes]
rs10774858	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10774859	0.92[EUR][1000 genomes]
rs10850629	0.93[EUR][1000 genomes]
rs10850630	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2091676	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136301	0.86[EUR][1000 genomes]
rs7139285	0.84[EUR][1000 genomes]
rs7305316	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7306019	0.81[AMR][1000 genomes];0.91[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	nsv973993	chr12:116861012-116874861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116863000-116867200	Enhancers	Placenta	Placenta
2	chr12:116863200-116866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:116863200-116866200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:116863200-116866800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:116863400-116866000	Enhancers	NHDF-Ad	bronchial
6	chr12:116863400-116866400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:116863400-116866800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:116863600-116866800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:116863800-116866000	Enhancers	HMEC	breast
10	chr12:116863800-116866800	Enhancers	K562	blood
11	chr12:116864000-116866000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:116864000-116866400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:116864000-116866400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:116864400-116866200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:116864400-116866600	Weak transcription	Right Atrium	heart
16	chr12:116864800-116866800	Enhancers	Fetal Intestine Small	intestine
17	chr12:116864800-116872200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:116865000-116869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:116865000-116869800	Weak transcription	NHLF	lung
20	chr12:116865200-116866600	Weak transcription	Aorta	Aorta
21	chr12:116865200-116870000	Weak transcription	Fetal Stomach	stomach
22	chr12:116865200-116870400	Enhancers	Fetal Brain Male	brain
23	chr12:116865400-116870000	Weak transcription	Fetal Heart	heart
24	chr12:116865400-116870000	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:116865400-116871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:116865400-116872000	Weak transcription	Ovary	ovary
27	chr12:116865600-116866000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:116865600-116866000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:116865600-116866800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:116865600-116866800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:116865600-116867400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:116865600-116869600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:116865600-116869800	Weak transcription	Fetal Brain Female	brain
34	chr12:116865600-116870200	Weak transcription	Fetal Lung	lung
35	chr12:116865800-116866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:116865800-116866600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:116865800-116866600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:116865800-116866600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:116865800-116866600	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:116865800-116866800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:116865800-116866800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:116865800-116866800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:116865800-116866800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:116865800-116866800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:116865800-116867000	Enhancers	A549	lung
46	chr12:116865800-116867800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:116865800-116869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:116865800-116869000	Weak transcription	Fetal Intestine Large	intestine
49	chr12:116865800-116869800	Weak transcription	Hela-S3	cervix
50	chr12:116865800-116869800	Weak transcription	Osteobl	bone

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