Variant report

Variant	rs1993500
Chromosome Location	chr12:10776597-10776598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10766930..10769742-chr12:10774668..10777182,2	MCF-7	breast:
2	chr12:10771877..10773786-chr12:10773916..10777458,3	K562	blood:
3	chr12:10770221..10774557-chr12:10774772..10778392,5	K562	blood:
4	chr12:10774924..10777176-chr12:10824922..10826689,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10772339	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1078437	0.85[EUR][1000 genomes]
rs10845186	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845187	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845188	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11053886	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12321017	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582745	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17742332	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1979268	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009908	0.91[ASN][1000 genomes]
rs2054194	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2054195	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2168746	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2168747	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168748	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252664	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2277410	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290717	0.87[ASN][1000 genomes]
rs3759259	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759260	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782671	0.91[ASN][1000 genomes]
rs61912160	0.83[ASN][1000 genomes]
rs61912161	0.83[ASN][1000 genomes]
rs8181761	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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	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

No data

Chromatin state (count:29 , 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	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
6	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:10770600-10777600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:10771400-10782200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:10772000-10787200	Weak transcription	NHEK	skin
12	chr12:10772400-10780600	Weak transcription	HMEC	breast
13	chr12:10773000-10777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:10773000-10780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:10773000-10786600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:10773000-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:10773200-10776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:10773400-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:10774600-10777800	Enhancers	NHDF-Ad	bronchial
20	chr12:10774600-10784000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:10774600-10784400	Weak transcription	HSMMtube	muscle
22	chr12:10775200-10777600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:10775200-10780600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:10775600-10777200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:10775800-10776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:10776000-10776800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:10776200-10784200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:10776200-10785200	Weak transcription	HSMM	muscle
29	chr12:10776400-10777800	Genic enhancers	HUVEC	blood vessel

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