Variant report

Variant	rs2192785
Chromosome Location	chr12:68319221-68319222
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	GATA3	chr12:68318782-68319803	MCF-7	breast:	n/a	chr12:68318999-68319010 chr12:68319549-68319558 chr12:68319542-68319563 chr12:68319549-68319556 chr12:68319545-68319561
2	NFIC	chr12:68318748-68319449	ECC-1	luminal epithelium:	n/a	n/a
3	SRF	chr12:68318887-68319519	ECC-1	luminal epithelium:	n/a	chr12:68319201-68319214 chr12:68319198-68319212
4	GATA3	chr12:68318956-68319979	MCF-7	breast:	n/a	chr12:68318999-68319010 chr12:68319549-68319558 chr12:68319542-68319563 chr12:68319549-68319556 chr12:68319545-68319561
5	GATA3	chr12:68319169-68319933	SK-N-SH	brain:	n/a	chr12:68319549-68319558 chr12:68319542-68319563 chr12:68319549-68319556 chr12:68319545-68319561
6	TCF7L2	chr12:68318784-68319237	MCF-7	breast:	n/a	chr12:68318997-68319011 chr12:68318996-68319010
7	NR2F2	chr12:68318840-68319435	MCF-7	breast:	n/a	n/a
8	ESR1	chr12:68318906-68319225	ECC-1	luminal epithelium:	n/a	chr12:68319174-68319191
9	NFIC	chr12:68318751-68319450	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr12:68318941-68319671	MCF-7	breast:	n/a	n/a
11	GATA3	chr12:68319183-68319888	SK-N-SH	brain:	n/a	chr12:68319549-68319558 chr12:68319542-68319563 chr12:68319549-68319556 chr12:68319545-68319561
12	ZNF217	chr12:68318993-68319776	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255772	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10878695	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878696	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878697	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11176936	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176937	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1351768	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1905453	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041769	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160243	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160244	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216012	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2904502	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2908764	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930118	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930120	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:68314000-68321200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:68314800-68320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:68315200-68319600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:68315200-68319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:68315200-68320000	Weak transcription	Gastric	stomach
7	chr12:68315200-68321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:68315800-68321400	Weak transcription	HSMMtube	muscle
9	chr12:68316200-68320600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:68316200-68320600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:68316200-68322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:68317000-68323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:68317800-68324800	Enhancers	Stomach Mucosa	stomach
14	chr12:68318200-68319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:68318800-68319400	Enhancers	Fetal Lung	lung
17	chr12:68318800-68319600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:68318800-68320600	Enhancers	Fetal Heart	heart
19	chr12:68319000-68319400	Enhancers	HMEC	breast
20	chr12:68319000-68319600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:68319000-68319600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:68319000-68320000	Enhancers	Fetal Thymus	thymus
23	chr12:68319000-68320000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:68319000-68320200	Enhancers	Placenta	Placenta
25	chr12:68319000-68320600	Enhancers	Fetal Muscle Leg	muscle
26	chr12:68319000-68320600	Enhancers	Left Ventricle	heart
27	chr12:68319200-68319600	Weak transcription	Lung	lung
28	chr12:68319200-68319600	Enhancers	Thymus	Thymus
29	chr12:68319200-68319800	Enhancers	NHEK	skin
30	chr12:68319200-68320200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:68319200-68320200	Enhancers	Primary T cells from cord blood	blood

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