Variant report

Variant	rs7970863
Chromosome Location	chr12:20808413-20808414
allele	A/G
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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1399938	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794270	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3809208	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56174957	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59508686	0.81[EUR][1000 genomes]
rs60480171	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61579575	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61623220	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487132	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67017312	0.81[EUR][1000 genomes]
rs72658756	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72658759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658760	0.81[EUR][1000 genomes]
rs72658761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303066	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7310399	0.81[EUR][1000 genomes]
rs7314545	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316120	0.95[AFR][1000 genomes];1.00[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065172	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74065173	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74066232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956705	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960786	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970439	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971656	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975280	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978760	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:41 , 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	chr12:20785000-20809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:20788000-20812400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:20799600-20813000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:20799800-20812600	Weak transcription	A549	lung
13	chr12:20800200-20809600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:20800200-20809800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:20800200-20810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:20800200-20812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:20800600-20809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:20802200-20812600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:20805800-20812600	Strong transcription	Hela-S3	cervix
20	chr12:20806400-20808600	Strong transcription	Fetal Intestine Small	intestine
21	chr12:20806400-20809000	Strong transcription	Colon Smooth Muscle	Colon
22	chr12:20806400-20812200	Strong transcription	Fetal Intestine Large	intestine
23	chr12:20806600-20808800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:20806600-20809800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:20806800-20809000	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:20806800-20809200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr12:20806800-20812600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:20807000-20810000	Strong transcription	HUVEC	blood vessel
29	chr12:20808000-20808800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:20808000-20809000	Strong transcription	Aorta	Aorta
31	chr12:20808200-20808600	Strong transcription	Fetal Stomach	stomach
32	chr12:20808200-20808800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:20808200-20808800	Enhancers	Right Atrium	heart
34	chr12:20808200-20808800	Enhancers	Right Ventricle	heart
35	chr12:20808200-20808800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:20808200-20809000	Genic enhancers	Left Ventricle	heart
37	chr12:20808200-20809800	Enhancers	HepG2	liver
38	chr12:20808200-20810000	Strong transcription	Ovary	ovary
39	chr12:20808400-20809000	Strong transcription	Pancreas	Pancrea
40	chr12:20808400-20809400	Strong transcription	Fetal Kidney	kidney
41	chr12:20808400-20809600	Weak transcription	Gastric	stomach

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