Variant report

Variant	rs10876134
Chromosome Location	chr12:51486694-51486695
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	chr12:51474025..51479149-chr12:51485745..51494502,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

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

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

rs_ID	r²[population]
rs10099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876143	0.85[ASN][1000 genomes]
rs11613085	0.84[ASN][1000 genomes]
rs1985457	0.85[ASN][1000 genomes]
rs2640516	0.86[ASN][1000 genomes]
rs2640527	0.82[AMR][1000 genomes]
rs2730648	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3110188	0.82[AMR][1000 genomes];0.82[ASN][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51488200	Weak transcription	Spleen	Spleen
2	chr12:51477400-51488800	Weak transcription	Gastric	stomach
3	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
4	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51477600-51487800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:51477800-51486800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:51477800-51487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:51477800-51487000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:51477800-51487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:51477800-51487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:51477800-51487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:51477800-51487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:51477800-51487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:51477800-51487400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:51477800-51487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:51477800-51487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:51477800-51487400	Weak transcription	HMEC	breast
18	chr12:51477800-51487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:51477800-51487600	Weak transcription	Primary T cells from cord blood	blood
20	chr12:51477800-51487600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:51477800-51487600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:51477800-51487600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:51477800-51487800	Weak transcription	Liver	Liver
24	chr12:51477800-51487800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:51477800-51487800	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:51477800-51487800	Weak transcription	Left Ventricle	heart
27	chr12:51477800-51487800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:51477800-51487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:51477800-51487800	Weak transcription	Hela-S3	cervix
30	chr12:51477800-51487800	Weak transcription	NH-A	brain
31	chr12:51477800-51487800	Weak transcription	NHDF-Ad	bronchial
32	chr12:51477800-51488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:51477800-51488000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:51477800-51488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:51477800-51488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51477800-51488000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:51477800-51488000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:51477800-51488000	Weak transcription	Fetal Heart	heart
39	chr12:51477800-51488000	Weak transcription	Fetal Kidney	kidney
40	chr12:51477800-51488000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:51477800-51488000	Weak transcription	Thymus	Thymus
42	chr12:51477800-51488000	Weak transcription	HUVEC	blood vessel
43	chr12:51477800-51488000	Weak transcription	NHEK	skin
44	chr12:51477800-51488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:51477800-51488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:51477800-51488200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:51477800-51488200	Weak transcription	Ovary	ovary
48	chr12:51477800-51488200	Weak transcription	Right Ventricle	heart
49	chr12:51477800-51488400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:51477800-51488600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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