Variant report

Variant	rs10849041
Chromosome Location	chr12:4449031-4449032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10450716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11063089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11063106	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12304233	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13312756	0.89[EUR][1000 genomes]
rs13312762	0.89[EUR][1000 genomes]
rs13312764	0.89[EUR][1000 genomes]
rs17782421	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17782469	0.89[EUR][1000 genomes]
rs3935187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4444158	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766234	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60591544	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61006360	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61309048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71583759	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7398987	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7485543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976596	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv275025	chr12:4441705-4462505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
3	chr12:4431600-4449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
8	chr12:4432000-4450200	Weak transcription	Stomach Mucosa	stomach
9	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
10	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
11	chr12:4433200-4450600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:4433200-4463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:4433800-4460400	Weak transcription	Gastric	stomach
14	chr12:4434000-4461600	Weak transcription	NHLF	lung
15	chr12:4434000-4465000	Weak transcription	Esophagus	oesophagus
16	chr12:4437800-4449600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:4438200-4449400	Strong transcription	A549	lung
18	chr12:4438600-4449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:4438600-4449400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:4438600-4449800	Strong transcription	Primary B cells from cord blood	blood
21	chr12:4438800-4450200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:4439200-4456000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:4439600-4449600	Weak transcription	Thymus	Thymus
24	chr12:4439800-4450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:4440200-4450000	Strong transcription	HMEC	breast
26	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine
27	chr12:4441400-4456000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:4441400-4459400	Weak transcription	HepG2	liver
29	chr12:4441600-4449200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:4441800-4450400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:4441800-4463600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:4442400-4450000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:4442800-4449200	Strong transcription	Primary T cells from cord blood	blood
34	chr12:4443000-4449800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:4443200-4449200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:4443200-4449200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:4443200-4449200	Strong transcription	Left Ventricle	heart
38	chr12:4443200-4449800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:4443200-4450000	Strong transcription	Adipose Nuclei	Adipose
40	chr12:4443200-4450200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:4443200-4450600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:4443400-4464800	Weak transcription	Fetal Brain Male	brain
43	chr12:4443600-4463400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:4444400-4457400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:4444600-4449200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:4444600-4449200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:4444600-4449400	Strong transcription	NHDF-Ad	bronchial
48	chr12:4444800-4450000	Strong transcription	Placenta	Placenta
49	chr12:4445200-4461000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:4445600-4449600	Strong transcription	HSMM	muscle

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