Variant report

Variant	rs3751376
Chromosome Location	chr13:39596866-39596867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:39595475-39597349	K562	blood:	n/a	n/a
2	STAT3	chr13:39596737-39597086	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:39596727..39599413-chr13:39610585..39613126,4	MCF-7	breast:
2	chr13:39586473..39588132-chr13:39595718..39598014,2	K562	blood:
3	chr13:39595559..39597525-chr13:39598981..39600626,2	K562	blood:
4	chr13:39595128..39597127-chr13:39603332..39605869,2	K562	blood:
5	chr13:39594195..39597127-chr13:39600978..39605869,5	K562	blood:
6	chr13:39585404..39588263-chr13:39595787..39598231,3	K562	blood:

No data

Variant related genes	Relation type
PROSER1	TF binding region
ENSG00000188811	Chromatin interaction
ENSG00000120685	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11840611	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12430086	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1326404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409442	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536342	0.87[EUR][1000 genomes]
rs1853970	0.81[EUR][1000 genomes]
rs1887111	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1926474	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs2094251	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2148418	0.81[EUR][1000 genomes]
rs2324160	0.81[EUR][1000 genomes]
rs3865000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563660	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6563661	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs6563662	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs6563663	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71439792	0.91[EUR][1000 genomes]
rs7320516	0.83[EUR][1000 genomes]
rs7324256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324837	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7325996	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7337269	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7489497	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985641	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs9315647	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs9315650	0.87[EUR][1000 genomes]
rs9566395	0.81[EUR][1000 genomes]
rs9576680	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9576687	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576723	0.83[EUR][1000 genomes]
rs9603503	0.87[EUR][1000 genomes]
rs9888511	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr13:39581800-39597000	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:39582000-39608200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:39582200-39597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:39582400-39605400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr13:39583200-39606600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr13:39583600-39597200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:39584000-39597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:39584600-39597600	Weak transcription	Fetal Heart	heart
9	chr13:39584600-39603600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:39587800-39608200	Weak transcription	Fetal Brain Male	brain
11	chr13:39588400-39597000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:39588400-39608800	Weak transcription	Stomach Mucosa	stomach
13	chr13:39588600-39597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:39588600-39598800	Weak transcription	Brain Angular Gyrus	brain
15	chr13:39588600-39608200	Weak transcription	Hela-S3	cervix
16	chr13:39588600-39610400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:39589200-39597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:39589200-39598000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:39589200-39608400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr13:39589200-39609400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:39589400-39597600	Weak transcription	Spleen	Spleen
22	chr13:39589600-39597200	Weak transcription	Small Intestine	intestine
23	chr13:39591200-39599400	Weak transcription	Lung	lung
24	chr13:39591200-39599400	Weak transcription	NHLF	lung
25	chr13:39591200-39608400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:39591600-39597800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:39591600-39600000	Strong transcription	Fetal Lung	lung
28	chr13:39592200-39602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:39592400-39597600	Weak transcription	Ovary	ovary
30	chr13:39592400-39597800	Weak transcription	Gastric	stomach
31	chr13:39592400-39597800	Weak transcription	Right Ventricle	heart
32	chr13:39592400-39598800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:39592400-39606600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:39592600-39597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr13:39592600-39597600	Weak transcription	Aorta	Aorta
36	chr13:39592600-39597800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:39592600-39598800	Weak transcription	Fetal Stomach	stomach
38	chr13:39592600-39599400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:39592600-39599400	Weak transcription	Esophagus	oesophagus
40	chr13:39592800-39597400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr13:39593800-39597000	Weak transcription	Fetal Intestine Small	intestine
42	chr13:39594200-39597200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:39594200-39603000	Strong transcription	Adipose Nuclei	Adipose
44	chr13:39594200-39604000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr13:39594200-39605600	Strong transcription	Dnd41	blood
46	chr13:39594400-39597200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:39594400-39597800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:39594400-39604200	Strong transcription	HUVEC	blood vessel
49	chr13:39594600-39605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:39594800-39597000	Strong transcription	H1 Cell Line	embryonic stem cell

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