Variant report

Variant	rs68101940
Chromosome Location	chr12:56191943-56191944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56128209..56131175-chr12:56191287..56192790,2	MCF-7	breast:
2	chr12:56191880..56193453-chr12:56196180..56198336,2	MCF-7	breast:
3	chr12:56191222..56193049-chr12:56207828..56209817,2	K562	blood:
4	chr12:56135805..56138740-chr12:56191575..56193310,3	MCF-7	breast:
5	chr12:56184033..56187012-chr12:56190030..56192705,3	K562	blood:
6	chr12:56182612..56186461-chr12:56189359..56195346,5	K562	blood:

Variant related genes	Relation type
ENSG00000135414	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12308277	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12320132	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1463591	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118032	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56699787	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58599597	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59980563	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310164	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73119263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:56144800-56198600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr12:56145200-56199400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:56149400-56209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:56160000-56197600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:56163000-56198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:56163200-56199800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
11	chr12:56163400-56198000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56164000-56197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:56166400-56194600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:56169200-56195400	Strong transcription	Primary B cells from cord blood	blood
15	chr12:56169200-56197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:56169400-56198400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:56169400-56198600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:56169400-56198600	Strong transcription	Dnd41	blood
19	chr12:56169600-56198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:56169600-56198200	Strong transcription	Liver	Liver
21	chr12:56169800-56197600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:56169800-56203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:56169800-56204200	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:56170000-56197400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:56170000-56197800	Strong transcription	Fetal Intestine Large	intestine
26	chr12:56170000-56198800	Strong transcription	HUVEC	blood vessel
27	chr12:56170200-56197400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:56170200-56198800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:56170200-56204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:56171400-56197600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:56171400-56197600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:56171400-56198600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:56171600-56197600	Strong transcription	Osteobl	bone
34	chr12:56172400-56199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:56174400-56199800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:56174800-56195400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:56175000-56199200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:56175200-56197600	Strong transcription	GM12878-XiMat	blood
39	chr12:56175200-56199800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:56175200-56204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:56175400-56198800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:56175600-56198600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:56176200-56197600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:56178800-56209200	Weak transcription	Stomach Mucosa	stomach
45	chr12:56179000-56192600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:56180400-56192400	Strong transcription	NHLF	lung
47	chr12:56181000-56196800	Weak transcription	Esophagus	oesophagus
48	chr12:56182600-56193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:56182800-56197800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:56183000-56198800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links