Variant report

Variant	rs36097019
Chromosome Location	chr4:152201053-152201054
allele	A/G
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	chr4:152200935-152201059	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr4:152201031-152201090	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152200533..152202067-chr4:152244855..152247196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250350	TF binding region
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12647331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649929	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13102005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13117723	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13120319	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13126069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13126943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128346	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13135328	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13137979	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13148086	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150868	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316858	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17590612	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34041707	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3990734	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4385037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66559303	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6819551	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6846745	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152182600-152211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:152182800-152206000	Weak transcription	NHEK	skin
3	chr4:152188600-152204000	Weak transcription	Gastric	stomach
4	chr4:152189400-152202400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:152189400-152205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:152190800-152208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:152191200-152204200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:152194200-152202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:152194200-152213200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:152196000-152204000	Weak transcription	Fetal Stomach	stomach
11	chr4:152196000-152218400	Weak transcription	Psoas Muscle	Psoas
12	chr4:152197800-152242400	Weak transcription	Aorta	Aorta
13	chr4:152198000-152202600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:152198200-152201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:152198200-152205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:152198400-152201800	Strong transcription	Fetal Intestine Small	intestine
17	chr4:152198600-152202000	Weak transcription	Stomach Mucosa	stomach
18	chr4:152198600-152203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:152198600-152204600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:152198600-152204800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:152198600-152205000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:152198600-152205000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:152198600-152205800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:152198800-152203200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:152198800-152204400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:152198800-152221800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:152198800-152242800	Weak transcription	Fetal Lung	lung
28	chr4:152199600-152201600	Enhancers	Left Ventricle	heart
29	chr4:152199600-152201600	Enhancers	Right Atrium	heart
30	chr4:152200000-152201600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:152200000-152201600	Enhancers	Right Ventricle	heart
32	chr4:152200600-152204200	Weak transcription	HUVEC	blood vessel
33	chr4:152200800-152201600	Enhancers	Liver	Liver
34	chr4:152200800-152202000	Enhancers	Ovary	ovary
35	chr4:152201000-152201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:152201000-152201200	Flanking Active TSS	Lung	lung
37	chr4:152201000-152201600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:152201000-152201800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:152201000-152203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:152201000-152204400	Genic enhancers	HepG2	liver

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