Variant report

Variant	rs12351801
Chromosome Location	chr9:100984946-100984947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100983664..100985681-chr9:101009334..101011944,2	MCF-7	breast:
2	chr9:100974489..100979508-chr9:100984246..100988193,5	MCF-7	breast:
3	chr9:100984465..100987162-chr9:100987810..100989533,3	K562	blood:
4	chr9:100940296..100942247-chr9:100983555..100986417,2	MCF-7	breast:
5	chr9:100978143..100990074-chr9:101014745..101021064,26	MCF-7	breast:
6	chr9:100983381..100985865-chr9:101008281..101010298,2	K562	blood:
7	chr9:100981625..100983478-chr9:100983956..100985664,2	MCF-7	breast:
8	chr9:100984926..100990430-chr9:100990519..100995039,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2282432	0.86[GIH][hapmap]
rs7036186	0.90[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7864256	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12351801	CORO2A	cis	Lymphoblastoid	GTEx
rs12351801	CORO2A	cis	lymphoblastoid	seeQTL
rs12351801	TBC1D2	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100958600-100985400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:100959800-100985200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
5	chr9:100968000-100987000	Weak transcription	Small Intestine	intestine
6	chr9:100968400-100995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr9:100968600-100985400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:100968800-100998000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:100969200-100985600	Strong transcription	Fetal Intestine Small	intestine
13	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
14	chr9:100969600-100997200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:100969800-100991800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr9:100970000-100985400	Strong transcription	Spleen	Spleen
17	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:100971200-100985200	Strong transcription	Lung	lung
19	chr9:100971400-100985400	Strong transcription	Fetal Intestine Large	intestine
20	chr9:100973000-100985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:100973800-100985400	Weak transcription	Stomach Mucosa	stomach
22	chr9:100974800-100985200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:100976400-100998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:100978200-100985200	Weak transcription	HepG2	liver
26	chr9:100978800-100986200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr9:100980000-100985400	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:100980800-100986000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr9:100981000-100985000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr9:100981000-100985400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:100981600-100985600	Strong transcription	Primary T cells from cord blood	blood
33	chr9:100981600-100987600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
35	chr9:100982000-100985200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:100982000-100985600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:100982200-100990800	Weak transcription	Primary B cells from cord blood	blood
38	chr9:100982200-100991200	Weak transcription	Fetal Lung	lung
39	chr9:100982400-100987000	Weak transcription	Liver	Liver
40	chr9:100982600-100985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:100982600-100985400	Weak transcription	Left Ventricle	heart
42	chr9:100982600-100987600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:100983000-100990400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
46	chr9:100983200-100985400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:100983200-100989400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:100983200-100990800	Weak transcription	Brain Anterior Caudate	brain
49	chr9:100983200-100992600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:100983200-100996600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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