Variant report

Variant	rs61969072
Chromosome Location	chr13:111380701-111380702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111378082..111379664-chr13:111380125..111381869,2	MCF-7	breast:
2	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11843661	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12184676	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34523940	0.96[ASN][1000 genomes]
rs3742182	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3858823	0.85[ASN][1000 genomes]
rs3934248	0.86[ASN][1000 genomes]
rs4773239	0.82[EUR][1000 genomes]
rs61969074	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61969076	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61971610	0.87[ASN][1000 genomes]
rs61971611	0.96[ASN][1000 genomes]
rs6492309	0.86[ASN][1000 genomes]
rs71445078	0.82[EUR][1000 genomes]
rs7992818	0.90[EUR][1000 genomes]
rs7999536	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999702	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9515270	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521906	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521911	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521916	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9521921	0.86[ASN][1000 genomes]
rs9521923	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521925	0.86[ASN][1000 genomes]
rs9521926	0.86[ASN][1000 genomes]
rs9583531	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583532	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	esv3440925	chr13:111378000-111406978	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1041716	chr13:111378180-111516489	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541926	chr13:111378180-111516489	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
3	chr13:111370800-111380800	Weak transcription	Hela-S3	cervix
4	chr13:111372200-111381600	Weak transcription	A549	lung
5	chr13:111372200-111383400	Weak transcription	Esophagus	oesophagus
6	chr13:111372200-111383600	Weak transcription	Aorta	Aorta
7	chr13:111372200-111384200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:111372400-111381400	Weak transcription	Right Ventricle	heart
9	chr13:111372400-111381600	Weak transcription	Fetal Intestine Small	intestine
10	chr13:111372400-111382000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:111372400-111382400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:111372400-111383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:111372400-111383400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:111372400-111384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:111372600-111381200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:111373600-111381000	Weak transcription	Fetal Brain Female	brain
17	chr13:111373600-111382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:111373600-111383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:111374200-111382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:111374400-111381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:111374400-111381600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:111375400-111383400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:111375800-111383800	Weak transcription	Fetal Stomach	stomach
24	chr13:111376400-111381600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr13:111376400-111383000	Weak transcription	HSMMtube	muscle
26	chr13:111376800-111381400	Weak transcription	Ovary	ovary
27	chr13:111376800-111381600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:111378200-111385400	Weak transcription	Spleen	Spleen
29	chr13:111378200-111390800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:111378400-111383800	Weak transcription	Thymus	Thymus
31	chr13:111378800-111382600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:111379400-111382000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr13:111379600-111380800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:111380200-111380800	Active TSS	Duodenum Mucosa	Duodenum
35	chr13:111380200-111380800	Active TSS	GM12878-XiMat	blood
36	chr13:111380200-111381000	Active TSS	Liver	Liver
37	chr13:111380600-111380800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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