Variant report

Variant	rs34296849
Chromosome Location	chr12:51593267-51593268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51593266-51593316	AG04449	skin:	fetal
2	chr12:51593266-51593316	HCT-116	colon:	n/a
3	chr12:51593266-51593316	CMK	blood:	n/a
4	chr12:51593266-51593316	BJ	skin:	n/a
5	chr12:51593266-51593316	AoSMC	blood vessel:	n/a
6	chr12:51593266-51593316	ProgFib	skin:	n/a
7	chr12:51593266-51593316	ovcar-3	ovarian:	n/a
8	chr12:51593266-51593316	HRPEpiC	eye:	n/a
9	chr12:51593266-51593316	RPTEC	kidney:	n/a
10	chr12:51593266-51593316	SK-N-MC	brain:	n/a
11	chr12:51593266-51593316	HIPEpiC	eye:	n/a
12	chr12:51593266-51593316	NH-A	brain:	n/a
13	chr12:51593266-51593316	K562	blood:	n/a
14	chr12:51593266-51593316	NHBE	bronchial:	n/a
15	chr12:51593266-51593316	HEK293	kidney:	embryo
16	chr12:51593266-51593316	Jurkat	blood:	n/a
17	chr12:51593266-51593316	T-47D	breast:	n/a
18	chr12:51593266-51593316	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:51593266-51593316	AG04450	lung:	fetal
20	chr12:51593266-51593316	GM12878	blood:	n/a
21	chr12:51593266-51593316	H1-hESC	embryonic stem cell:	embryo
22	chr12:51593266-51593316	Hepatocyte	liver:	n/a
23	chr12:51593266-51593316	HNPCEpiC	eye:	n/a
24	chr12:51593266-51593316	HL-60	blood:	n/a
25	chr12:51593266-51593316	IMR90	lung:	fetal
26	chr12:51593266-51593316	HCPEpiC	choroid plexus:	n/a
27	chr12:51593266-51593316	SKMC	muscle:	n/a
28	chr12:51593266-51593316	PrEC	prostate:	n/a
29	chr12:51593266-51593316	HMEC	breast:	n/a
30	chr12:51593266-51593316	PFSK-1	brain:	n/a
31	chr12:51593266-51593316	GM12891	blood:	n/a
32	chr12:51593266-51593316	MCF-7	breast:	n/a
33	chr12:51593266-51593316	AG09309	skin:	n/a
34	chr12:51593266-51593316	SK-N-SH	brain:	n/a
35	chr12:51593266-51593316	PANC-1	pancreas:	n/a
36	chr12:51593266-51593316	ECC-1	luminal epithelium:	n/a
37	chr12:51593266-51593316	MCF10A-Er-Src	breast:	n/a
38	chr12:51593266-51593316	AG09319	gingival:	n/a
39	chr12:51593266-51593316	U87	brain:	n/a
40	chr12:51593266-51593316	Hela-S3	cervix:	n/a
41	chr12:51593266-51593316	HRE	kidney:	n/a
42	chr12:51593266-51593316	NB4	blood:	n/a
43	chr12:51593266-51593316	GM12892	blood:	n/a
44	chr12:51593266-51593316	GM06990	blood:	n/a
45	chr12:51593266-51593316	AG10803	skin:	n/a
46	chr12:51593266-51593316	HCF	heart:	n/a
47	chr12:51593266-51593316	HAEpiC	amniotic membrane:	n/a
48	chr12:51593266-51593316	BE2_C	brain:	n/a
49	chr12:51593266-51593316	Caco-2	colon:	n/a
50	chr12:51593266-51593316	HRCEpiC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51566003..51568547-chr12:51591990..51595130,3	K562	blood:
2	chr12:51577036..51579030-chr12:51592102..51594138,2	MCF-7	breast:
3	chr12:51476096..51479039-chr12:51591968..51594960,3	K562	blood:
4	chr12:51475800..51478599-chr12:51593054..51595468,4	MCF-7	breast:
5	chr12:51574575..51576474-chr12:51592776..51594992,2	K562	blood:
6	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:

No data

Variant related genes	Relation type
POU6F1	CpG island
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35125408	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58560201	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
6	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
9	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:51582200-51608000	Weak transcription	NHLF	lung
12	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
16	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
17	chr12:51583600-51598400	Weak transcription	Osteobl	bone
18	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
19	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:51586200-51594000	Weak transcription	Liver	Liver
31	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:51588200-51595000	Strong transcription	Brain Germinal Matrix	brain
34	chr12:51588400-51594200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51588600-51594000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr12:51588800-51595000	Strong transcription	Fetal Brain Female	brain
37	chr12:51589000-51594200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:51590200-51594000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:51590600-51593400	Genic enhancers	Adipose Nuclei	Adipose
40	chr12:51590600-51597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
42	chr12:51591200-51594000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:51591400-51594200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:51591800-51597400	Weak transcription	Fetal Intestine Small	intestine
45	chr12:51592000-51595200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:51592000-51596400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:51592200-51593400	Weak transcription	Aorta	Aorta
48	chr12:51592200-51596600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:51592200-51597400	Weak transcription	Ovary	ovary
50	chr12:51592200-51602400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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