Variant report

Variant	rs6650195
Chromosome Location	chr12:10785054-10785055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:10784870-10785186	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10766041..10767733-chr12:10782838..10785300,2	MCF-7	breast:
2	chr12:10783181..10785350-chr12:10788127..10790504,2	K562	blood:
3	chr12:10782687..10785375-chr12:10794891..10797220,2	MCF-7	breast:
4	chr12:10782352..10785232-chr12:10787939..10791326,3	MCF-7	breast:

Variant related genes	Relation type
STYK1	TF binding region
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57715513	1.00[AMR][1000 genomes]
rs57963034	1.00[AMR][1000 genomes]
rs73256078	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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
5	chr12:10772000-10787200	Weak transcription	NHEK	skin
6	chr12:10773000-10786600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:10773000-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:10773400-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:10776200-10785200	Weak transcription	HSMM	muscle
10	chr12:10777600-10786600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:10777600-10787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:10777800-10786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:10779800-10790000	Strong transcription	HUVEC	blood vessel
14	chr12:10781000-10786400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:10781000-10787000	Weak transcription	HMEC	breast
16	chr12:10781800-10786200	Weak transcription	Stomach Mucosa	stomach
17	chr12:10782200-10787600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:10782200-10791000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:10782400-10789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:10784000-10786000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:10784000-10787000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:10784200-10787200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:10784200-10787800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:10784200-10788400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:10784400-10785600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:10784400-10786200	Enhancers	HSMMtube	muscle
27	chr12:10784600-10785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:10784800-10785200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:10784800-10785400	Enhancers	Osteobl	bone
30	chr12:10784800-10788800	Enhancers	NHDF-Ad	bronchial
31	chr12:10785000-10785400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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