Variant report

Variant	rs4694155
Chromosome Location	chr4:73931526-73931527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73908713..73911964-chr4:73931003..73934099,3	K562	blood:
2	chr4:73929667..73932602-chr4:74087330..74089868,2	K562	blood:
3	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
4	chr4:73918067..73922976-chr4:73929464..73933812,4	K562	blood:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000272859	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10006547	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10034689	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10035001	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10050235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10805059	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11724514	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs11736349	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs11935070	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13101277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1381014	0.83[ASN][1000 genomes]
rs1534450	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4072	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4437217	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4519770	0.83[ASN][1000 genomes]
rs4694156	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4995246	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5020219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6830954	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850870	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9291182	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4694155	CXCL6	cis	parietal	SCAN
rs4694155	AFM	cis	parietal	SCAN
rs4694155	AFP	cis	parietal	SCAN
rs4694155	PPEF2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73917200-73933800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:73917400-73932000	Weak transcription	Psoas Muscle	Psoas
3	chr4:73918600-73933000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:73918800-73932200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:73918800-73933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:73919000-73932000	Strong transcription	Fetal Thymus	thymus
7	chr4:73919000-73932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:73919000-73932800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:73919200-73932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:73919600-73931600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:73920600-73932400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:73920800-73931800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:73920800-73934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:73921000-73931600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr4:73921000-73933200	Strong transcription	Fetal Muscle Leg	muscle
16	chr4:73921000-73933600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:73921200-73933200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:73921400-73931800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:73921400-73934200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:73921600-73933800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:73921800-73933000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:73921800-73933200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:73922000-73933200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:73922200-73933600	Weak transcription	Hela-S3	cervix
25	chr4:73922600-73933000	Strong transcription	Fetal Stomach	stomach
26	chr4:73923200-73932800	Weak transcription	Small Intestine	intestine
27	chr4:73924000-73932000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:73924200-73933800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:73925200-73933800	Weak transcription	A549	lung
30	chr4:73925400-73933800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:73925400-73933800	Weak transcription	Aorta	Aorta
32	chr4:73925600-73932000	Weak transcription	Brain Angular Gyrus	brain
33	chr4:73925800-73933800	Weak transcription	Stomach Mucosa	stomach
34	chr4:73925800-73934000	Weak transcription	Ovary	ovary
35	chr4:73925800-73934000	Weak transcription	Right Ventricle	heart
36	chr4:73925800-73934400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:73925800-73934800	Weak transcription	Gastric	stomach
38	chr4:73926000-73933000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:73926000-73933600	Weak transcription	Fetal Brain Male	brain
40	chr4:73926000-73933800	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:73926000-73933800	Weak transcription	Colonic Mucosa	Colon
42	chr4:73926000-73934000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:73926200-73932000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:73926600-73934000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:73927200-73933200	Weak transcription	HUVEC	blood vessel
46	chr4:73927400-73933200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:73927600-73932000	Weak transcription	Pancreas	Pancrea
48	chr4:73927600-73932800	Weak transcription	HepG2	liver
49	chr4:73927600-73933800	Weak transcription	Brain Substantia Nigra	brain
50	chr4:73927600-73934200	Weak transcription	Esophagus	oesophagus

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