Variant report

Variant	rs12813237
Chromosome Location	chr12:121729113-121729114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10400545	0.87[EUR][1000 genomes]
rs11610335	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11611253	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11613001	0.84[EUR][1000 genomes]
rs11614587	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11614859	0.84[EUR][1000 genomes]
rs11615493	0.87[EUR][1000 genomes]
rs11616052	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11831561	0.87[EUR][1000 genomes]
rs11836127	0.87[EUR][1000 genomes]
rs12809685	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12819229	0.87[EUR][1000 genomes]
rs12821054	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12830931	0.87[EUR][1000 genomes]
rs34097145	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34301487	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34606348	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35252229	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35312287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35481664	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35583078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35718230	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35882228	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35933304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36122756	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71454687	0.87[EUR][1000 genomes]
rs71454688	0.87[EUR][1000 genomes]
rs71454689	0.87[EUR][1000 genomes]
rs71454690	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:121707400-121733200	Weak transcription	HSMM	muscle
5	chr12:121708800-121730200	Weak transcription	HepG2	liver
6	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
7	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
8	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
12	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:121715200-121730200	Weak transcription	A549	lung
15	chr12:121715400-121731400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:121715600-121733000	Weak transcription	NHEK	skin
18	chr12:121717000-121732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:121717400-121730200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:121717600-121733000	Weak transcription	Esophagus	oesophagus
21	chr12:121717600-121733000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:121717800-121731400	Weak transcription	HMEC	breast
23	chr12:121717800-121733200	Weak transcription	NH-A	brain
24	chr12:121718000-121733000	Weak transcription	Brain Substantia Nigra	brain
25	chr12:121720200-121732200	Weak transcription	Small Intestine	intestine
26	chr12:121720200-121733200	Weak transcription	Colonic Mucosa	Colon
27	chr12:121720600-121731200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:121722000-121730200	Weak transcription	Dnd41	blood
29	chr12:121722000-121732800	Weak transcription	K562	blood
30	chr12:121722800-121729400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:121722800-121733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:121723000-121732200	Weak transcription	HUVEC	blood vessel
33	chr12:121723600-121733000	Weak transcription	Pancreas	Pancrea
34	chr12:121725600-121733000	Weak transcription	NHLF	lung
35	chr12:121726200-121733200	Weak transcription	Psoas Muscle	Psoas
36	chr12:121726400-121732200	Weak transcription	Right Ventricle	heart
37	chr12:121726400-121733000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:121726400-121733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:121726600-121731600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121726600-121732000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:121726600-121732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:121726600-121732200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:121727000-121729800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:121727000-121730000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:121727000-121730200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:121727000-121730200	Weak transcription	GM12878-XiMat	blood
47	chr12:121727000-121730600	Strong transcription	Fetal Intestine Large	intestine
48	chr12:121727000-121731800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:121727000-121732200	Weak transcription	Stomach Mucosa	stomach
50	chr12:121727000-121732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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