Variant report

Variant	rs3013435
Chromosome Location	chr1:113208597-113208598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113208089-113210276	K562	blood:	n/a	n/a
2	POLR2A	chr1:113207993-113208917	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:113208144-113208729	K562	blood:	n/a	n/a
4	POLR2A	chr1:113208131-113208640	K562	blood:	n/a	n/a
5	POLR2A	chr1:113208078-113209020	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CAPZA1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059435	1.00[EUR][1000 genomes]
rs12067118	1.00[EUR][1000 genomes]
rs12070103	1.00[EUR][1000 genomes]
rs12070165	1.00[EUR][1000 genomes]
rs6657154	1.00[EUR][1000 genomes]
rs6694556	1.00[EUR][1000 genomes]
rs6697225	1.00[EUR][1000 genomes]
rs7516434	1.00[EUR][1000 genomes]
rs7516521	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
2	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:113184200-113215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:113184600-113214800	Strong transcription	Hela-S3	cervix
6	chr1:113185000-113214800	Strong transcription	Dnd41	blood
7	chr1:113185400-113216200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:113186000-113210800	Strong transcription	GM12878-XiMat	blood
9	chr1:113186000-113214800	Strong transcription	Fetal Thymus	thymus
10	chr1:113186000-113215000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:113186200-113215400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:113187000-113213200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:113187000-113215200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:113187200-113215200	Strong transcription	HSMM	muscle
15	chr1:113187400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:113187800-113216000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:113188400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:113188800-113213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:113189000-113213800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:113189200-113211000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:113189200-113214600	Strong transcription	NHEK	skin
22	chr1:113189200-113214800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:113189200-113215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:113189400-113214800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:113189800-113213800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:113189800-113215200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:113189800-113215400	Strong transcription	Placenta	Placenta
28	chr1:113189800-113216200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:113190000-113210600	Strong transcription	Primary B cells from cord blood	blood
30	chr1:113190000-113214600	Strong transcription	Liver	Liver
31	chr1:113190000-113215200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:113190000-113215200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:113190000-113215200	Strong transcription	NH-A	brain
34	chr1:113190000-113215400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:113190000-113215400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:113190200-113210600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:113190200-113214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:113190200-113214600	Strong transcription	Adipose Nuclei	Adipose
39	chr1:113190600-113211000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:113190600-113213000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:113190600-113214200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:113190800-113209000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:113190800-113215000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:113191000-113213600	Strong transcription	Primary T cells from cord blood	blood
45	chr1:113191000-113213800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:113191000-113215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:113191400-113215200	Strong transcription	Fetal Intestine Large	intestine
48	chr1:113191600-113214800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:113194400-113216000	Weak transcription	Stomach Mucosa	stomach
50	chr1:113195800-113215200	Strong transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links