Variant report

Variant	rs61745056
Chromosome Location	chr12:105322262-105322263
allele	A/C
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	GATA3	chr12:105321822-105322616	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr12:105321657-105322313	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr12:105321577-105322693	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr12:105321689-105322496	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105318476..105323326-chr12:105350867..105355215,4	MCF-7	breast:

Variant related genes	Relation type
SLC41A2	TF binding region
ENSG00000136052	Chromatin interaction

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

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

rs_ID	r²[population]
rs11112248	0.83[AMR][1000 genomes]
rs11112252	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105290800-105331600	Weak transcription	Gastric	stomach
2	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
4	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
5	chr12:105304400-105324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105315600-105323400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105315600-105323600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105316800-105322800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:105320200-105332200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105320600-105324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:105320800-105323200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:105321000-105323400	Weak transcription	HSMM	muscle
13	chr12:105321000-105324200	Weak transcription	HUVEC	blood vessel
14	chr12:105321200-105323600	Weak transcription	Osteobl	bone
15	chr12:105321600-105322400	Enhancers	HSMMtube	muscle
16	chr12:105321800-105322800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105322000-105322400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:105322000-105322400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105322000-105322400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr12:105322200-105322600	Weak transcription	GM12878-XiMat	blood
21	chr12:105322200-105323400	Weak transcription	Liver	Liver
22	chr12:105322200-105324000	Weak transcription	A549	lung

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