Variant report

Variant	rs56675333
Chromosome Location	chr12:121321834-121321835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121315603..121319201-chr12:121319262..121323037,3	K562	blood:
2	chr12:121321411..121324329-chr12:121329045..121331159,2	MCF-7	breast:
3	chr12:121319672..121322642-chr12:121322756..121324594,2	K562	blood:
4	chr12:121316464..121318952-chr12:121321277..121324869,5	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11065310	1.00[EUR][1000 genomes]
rs55889244	1.00[EUR][1000 genomes]
rs59361106	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6489788	1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2591284	chr12:121321665-121323199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:121304200-121329800	Weak transcription	K562	blood
7	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121304800-121322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:121304800-121324200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:121306000-121322800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:121306600-121326600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:121308800-121323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:121310800-121323600	Weak transcription	Fetal Thymus	thymus
15	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:121311200-121322400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:121311200-121323200	Weak transcription	Thymus	Thymus
18	chr12:121311400-121323000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:121311400-121323800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121312000-121323200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:121312000-121323400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:121312000-121323400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
25	chr12:121312800-121322800	Weak transcription	GM12878-XiMat	blood
26	chr12:121313000-121322600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:121313000-121322800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:121313000-121323200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:121313000-121323400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:121313000-121325800	Weak transcription	Ovary	ovary
31	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:121313400-121323200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:121313400-121330000	Weak transcription	Psoas Muscle	Psoas
34	chr12:121313400-121332400	Weak transcription	Lung	lung
35	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
37	chr12:121313600-121322800	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:121314000-121324000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:121315400-121322600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
42	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:121317600-121331400	Weak transcription	HepG2	liver
45	chr12:121317600-121339600	Weak transcription	HMEC	breast
46	chr12:121317800-121322800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:121317800-121324000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:121318000-121323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:121318000-121325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links