Variant report

Variant	rs7314545
Chromosome Location	chr12:20810280-20810281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12580616	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580628	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581970	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1399938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3809208	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56174957	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59508686	0.81[EUR][1000 genomes]
rs60480171	1.00[EUR][1000 genomes]
rs61579575	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61623220	1.00[EUR][1000 genomes]
rs6487131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67017312	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72658756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72658759	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658760	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72658761	1.00[EUR][1000 genomes]
rs7296571	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7310399	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7316120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240436	0.81[EUR][1000 genomes]
rs73240441	0.81[EUR][1000 genomes]
rs74065151	1.00[EUR][1000 genomes]
rs74065172	0.85[EUR][1000 genomes]
rs74065173	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74066232	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066238	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066258	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956705	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7970439	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970863	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971656	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975280	1.00[EUR][1000 genomes]
rs7978760	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
2	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
3	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:20780600-20812800	Weak transcription	Small Intestine	intestine
5	chr12:20783000-20812600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:20784600-20810600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:20784800-20812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:20784800-20816000	Weak transcription	Osteobl	bone
9	chr12:20788000-20812400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:20799600-20813000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:20799800-20812600	Weak transcription	A549	lung
12	chr12:20800200-20812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:20802200-20812600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:20805800-20812600	Strong transcription	Hela-S3	cervix
15	chr12:20806400-20812200	Strong transcription	Fetal Intestine Large	intestine
16	chr12:20806800-20812600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:20808600-20812400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:20808600-20812800	Weak transcription	Fetal Stomach	stomach
19	chr12:20808800-20812600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:20808800-20812600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:20808800-20812600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:20808800-20813000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:20808800-20815800	Weak transcription	Right Ventricle	heart
24	chr12:20809000-20812400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:20809000-20812600	Weak transcription	Left Ventricle	heart
26	chr12:20809000-20813000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:20809000-20814400	Weak transcription	Aorta	Aorta
28	chr12:20809000-20814400	Weak transcription	Pancreas	Pancrea
29	chr12:20809200-20811800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:20809200-20812800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:20809400-20811000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:20809400-20812800	Weak transcription	Fetal Kidney	kidney
33	chr12:20809600-20810400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:20809600-20810800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:20809600-20811000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:20809800-20810400	Flanking Active TSS	HepG2	liver
37	chr12:20809800-20810800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:20809800-20810800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:20809800-20811000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:20809800-20812600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:20810000-20810400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:20810000-20810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:20810000-20810800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:20810000-20811200	Weak transcription	Ovary	ovary
45	chr12:20810000-20814200	Weak transcription	HUVEC	blood vessel
46	chr12:20810200-20811000	Enhancers	Cortex derived primary cultured neurospheres	brain

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