Variant report

Variant	rs34447944
Chromosome Location	chr12:32481369-32481370
allele	A/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:24)

rs_ID	r²[population]
rs1055875	1.00[AFR][1000 genomes]
rs12321268	0.81[EUR][1000 genomes]
rs191257	0.85[EUR][1000 genomes]
rs28514337	0.81[EUR][1000 genomes]
rs325433	0.87[EUR][1000 genomes]
rs325434	0.87[EUR][1000 genomes]
rs325435	0.85[EUR][1000 genomes]
rs35919769	1.00[AFR][1000 genomes]
rs4385975	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55686847	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56141196	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56144247	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149636	1.00[AFR][1000 genomes]
rs56235810	0.81[EUR][1000 genomes]
rs56253344	1.00[AFR][1000 genomes]
rs56386122	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73295804	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295807	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295812	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295822	0.95[EUR][1000 genomes]
rs7970001	0.81[EUR][1000 genomes]
rs7970425	0.81[EUR][1000 genomes]
rs7970657	0.81[EUR][1000 genomes]
rs7973680	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
2	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:32460400-32514600	Weak transcription	HMEC	breast
4	chr12:32472600-32489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:32472800-32493600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:32475000-32490200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:32475600-32481600	Weak transcription	Lung	lung
9	chr12:32475600-32483200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:32475800-32492000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:32475800-32495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:32476600-32487200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:32476600-32493400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:32477200-32490400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
21	chr12:32478400-32490400	Weak transcription	NHLF	lung
22	chr12:32478600-32484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:32478600-32490200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:32478600-32490400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:32478800-32483600	Weak transcription	A549	lung
26	chr12:32478800-32490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:32478800-32490400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:32479000-32483800	Weak transcription	Placenta	Placenta
30	chr12:32479000-32493600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:32479200-32492400	Weak transcription	Small Intestine	intestine
32	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
33	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:32479400-32490400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:32479400-32494400	Weak transcription	Right Ventricle	heart
36	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
37	chr12:32479600-32483000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:32479600-32483200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:32479600-32483600	Weak transcription	HUVEC	blood vessel
40	chr12:32479600-32491800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:32479800-32483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:32479800-32485400	Weak transcription	Fetal Kidney	kidney
43	chr12:32480000-32483000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:32480200-32481400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:32480200-32481600	Strong transcription	Primary B cells from cord blood	blood
46	chr12:32480200-32482000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:32480200-32482000	Strong transcription	HSMM	muscle
48	chr12:32480200-32482600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:32480200-32483000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:32480200-32483200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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