Variant report

Variant	rs7315045
Chromosome Location	chr12:20780539-20780540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10734705	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10743381	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10770678	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4265636	0.83[YRI][hapmap]
rs4369459	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4369460	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508254	1.00[YRI][hapmap]
rs6487115	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136256	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313422	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469158	chr12:20766559-20783761	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv557703	chr12:20766559-20783761	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv898858	chr12:20775890-20791982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel
5	chr12:20765800-20782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
7	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
8	chr12:20767600-20781800	Weak transcription	Ovary	ovary
9	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:20767800-20782800	Weak transcription	Fetal Kidney	kidney
11	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
12	chr12:20768600-20782600	Weak transcription	NH-A	brain
13	chr12:20769800-20781200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:20769800-20781200	Weak transcription	Osteobl	bone
15	chr12:20769800-20781800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:20769800-20787200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:20773200-20780600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
19	chr12:20775400-20782600	Weak transcription	Left Ventricle	heart
20	chr12:20775800-20781400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:20777800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:20778200-20782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:20778600-20782400	Weak transcription	NHDF-Ad	bronchial
24	chr12:20778600-20783800	Enhancers	Fetal Intestine Large	intestine
25	chr12:20779400-20783000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:20779400-20783600	Enhancers	Fetal Intestine Small	intestine
27	chr12:20779600-20780600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:20779600-20781200	Enhancers	HepG2	liver
29	chr12:20779800-20780800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:20779800-20781400	Enhancers	A549	lung
31	chr12:20780000-20781800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:20780200-20780600	Enhancers	Right Atrium	heart
33	chr12:20780200-20780800	Enhancers	Fetal Stomach	stomach
34	chr12:20780200-20781000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:20780200-20781200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:20780200-20781400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:20780200-20783000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:20780200-20783400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:20780200-20783600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:20780400-20780600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:20780400-20780600	Enhancers	Aorta	Aorta
42	chr12:20780400-20780600	Enhancers	Small Intestine	intestine
43	chr12:20780400-20781400	Weak transcription	Fetal Lung	lung
44	chr12:20780400-20783200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose

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