Variant report

Variant	rs11112070
Chromosome Location	chr12:104867758-104867759
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
2	chr12:104681309..104682923-chr12:104867248..104870196,2	K562	blood:
3	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10861220	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861221	0.87[ASN][1000 genomes]
rs10861222	0.93[ASN][1000 genomes]
rs10861223	0.93[ASN][1000 genomes]
rs11112069	0.89[ASN][1000 genomes]
rs11112074	0.93[ASN][1000 genomes]
rs1922262	0.93[ASN][1000 genomes]
rs1922263	0.93[ASN][1000 genomes]
rs4964292	0.81[EUR][1000 genomes]
rs4964809	0.93[ASN][1000 genomes]
rs66839509	0.80[ASN][1000 genomes]
rs7299352	0.83[ASN][1000 genomes]
rs7301359	0.92[EUR][1000 genomes]
rs7313791	0.83[ASN][1000 genomes]
rs7973993	0.91[ASN][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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
12	chr12:104857800-104873600	Weak transcription	A549	lung
13	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:104861800-104869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:104863400-104869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:104863400-104879200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104864200-104867800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:104864400-104867800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:104864400-104869600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:104864600-104868800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:104865200-104867800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:104865200-104869400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:104865400-104869400	Enhancers	Fetal Thymus	thymus
24	chr12:104865600-104874600	Weak transcription	HMEC	breast
25	chr12:104865800-104869400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:104866000-104869600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:104866200-104868200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:104866200-104869200	Enhancers	Primary T cells from cord blood	blood
29	chr12:104866200-104869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:104866200-104869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:104866200-104869400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:104866400-104868400	Flanking Active TSS	GM12878-XiMat	blood
33	chr12:104866400-104868600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:104866400-104869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:104866600-104868200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:104866600-104868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:104866800-104868200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:104866800-104869000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:104866800-104869200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:104866800-104870800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:104867000-104867800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:104867000-104867800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr12:104867000-104867800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:104867000-104868000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:104867000-104868600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:104867000-104869400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:104867200-104868600	Weak transcription	Stomach Mucosa	stomach
49	chr12:104867200-104869400	Enhancers	Small Intestine	intestine
50	chr12:104867400-104867800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links