Variant report

Variant	rs3751318
Chromosome Location	chr12:104850814-104850815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10778334	0.91[ASN][1000 genomes]
rs12315181	0.82[MEX][hapmap]
rs12578959	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580133	1.00[EUR][1000 genomes]
rs12581080	1.00[EUR][1000 genomes]
rs12581557	1.00[EUR][1000 genomes]
rs12581952	1.00[MEX][hapmap]
rs17035647	1.00[EUR][1000 genomes]
rs17035692	1.00[MEX][hapmap]
rs3751319	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs3751321	0.91[ASN][1000 genomes]
rs3751322	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs3812797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964294	1.00[MEX][hapmap]
rs4964796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964803	1.00[EUR][1000 genomes]
rs4964804	1.00[EUR][1000 genomes]
rs4964810	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136717	1.00[EUR][1000 genomes]
rs7300417	1.00[EUR][1000 genomes]
rs7301678	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104849600-104853200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:104849600-104853200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:104849800-104851000	Active TSS	Brain Germinal Matrix	brain
4	chr12:104849800-104851800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:104849800-104851800	Active TSS	Fetal Brain Female	brain
6	chr12:104849800-104852000	Active TSS	Brain Cingulate Gyrus	brain
7	chr12:104849800-104852000	Active TSS	Right Ventricle	heart
8	chr12:104849800-104852400	Active TSS	Brain Angular Gyrus	brain
9	chr12:104849800-104852600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:104849800-104852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:104849800-104852600	Active TSS	HSMMtube	muscle
12	chr12:104849800-104852800	Active TSS	NHLF	lung
13	chr12:104849800-104853000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:104849800-104853400	Active TSS	Aorta	Aorta
15	chr12:104849800-104853600	Active TSS	Right Atrium	heart
16	chr12:104850000-104851000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:104850000-104851400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:104850000-104851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:104850000-104851400	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr12:104850000-104851800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:104850000-104851800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:104850000-104852000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:104850000-104852000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:104850000-104852000	Active TSS	Brain Substantia Nigra	brain
25	chr12:104850000-104852000	Bivalent/Poised TSS	HepG2	liver
26	chr12:104850000-104852000	Active TSS	HSMM	muscle
27	chr12:104850000-104852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:104850000-104852600	Flanking Active TSS	Liver	Liver
29	chr12:104850000-104852800	Active TSS	Ovary	ovary
30	chr12:104850000-104853000	Active TSS	Left Ventricle	heart
31	chr12:104850000-104853400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr12:104850000-104853400	Active TSS	Fetal Kidney	kidney
33	chr12:104850000-104853400	Active TSS	Gastric	stomach
34	chr12:104850000-104853400	Active TSS	Pancreas	Pancrea
35	chr12:104850000-104853600	Active TSS	NHDF-Ad	bronchial
36	chr12:104850000-104853800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:104850200-104851000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:104850200-104851000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:104850200-104851000	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:104850200-104851200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:104850200-104851400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:104850200-104851600	Active TSS	Placenta	Placenta
43	chr12:104850200-104851800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:104850200-104851800	Bivalent/Poised TSS	Stomach Mucosa	stomach
45	chr12:104850200-104852000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:104850200-104852000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:104850200-104852000	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:104850200-104852000	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:104850200-104852000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:104850200-104852200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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