Variant report

Variant	rs74106148
Chromosome Location	chr12:83254062-83254063
allele	G/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:6)

rs_ID	r²[population]
rs10862515	0.87[ASN][1000 genomes]
rs11836973	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010057	0.87[ASN][1000 genomes]
rs17010061	0.87[ASN][1000 genomes]
rs74106146	0.87[ASN][1000 genomes]
rs74106147	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv437765	chr12:83230454-83271933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3395484	chr12:83253840-83254081	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:83212400-83257000	Weak transcription	Gastric	stomach
3	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
5	chr12:83246800-83256000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:83248600-83255800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:83249200-83256000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:83249400-83256800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:83249400-83261000	Weak transcription	Fetal Heart	heart
10	chr12:83249600-83261200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:83249800-83256000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:83250000-83264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:83250400-83256600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:83251000-83255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:83251000-83257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:83251200-83256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:83251200-83256000	Weak transcription	Small Intestine	intestine
18	chr12:83251400-83256000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:83251400-83258000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:83251400-83259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:83251400-83265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:83251600-83254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:83251600-83260800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:83252200-83258600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:83252200-83260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:83252200-83261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:83252200-83264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
29	chr12:83252400-83254800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:83252400-83257600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:83252800-83254200	Weak transcription	Fetal Kidney	kidney
32	chr12:83252800-83254800	Weak transcription	Fetal Lung	lung
33	chr12:83252800-83254800	Weak transcription	HUVEC	blood vessel
34	chr12:83252800-83261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:83252800-83262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:83252800-83262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:83252800-83264000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:83253400-83254800	Enhancers	Brain Substantia Nigra	brain
39	chr12:83253600-83255200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:83253600-83256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:83253800-83254200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:83253800-83255800	Weak transcription	Brain Anterior Caudate	brain
43	chr12:83253800-83256200	Enhancers	Fetal Stomach	stomach
44	chr12:83253800-83256800	Weak transcription	Fetal Brain Male	brain
45	chr12:83254000-83254400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:83254000-83254600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:83254000-83255000	Enhancers	Brain Hippocampus Middle	brain
48	chr12:83254000-83255200	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:83254000-83257200	Enhancers	Colon Smooth Muscle	Colon

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