Variant report

Variant	rs4775196
Chromosome Location	chr15:59952382-59952383
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	chr15:59951368-59954200	K562	blood:	n/a	n/a
2	POLR2A	chr15:59952145-59952403	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:59952228-59952433	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59950702..59954710-chr15:59966700..59968446,3	K562	blood:
2	chr15:59945879..59953077-chr15:59978622..59984049,13	K562	blood:

Variant related genes	Relation type
GTF2A2	TF binding region
ENSG00000259238	Chromatin interaction
ENSG00000140299	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10851661	0.92[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10851662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10851663	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11071463	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11071464	0.92[ASW][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101518	1.00[AMR][1000 genomes]
rs12101627	1.00[AMR][1000 genomes]
rs16941503	1.00[MEX][hapmap]
rs16941555	1.00[AMR][1000 genomes]
rs16941810	1.00[AMR][1000 genomes]
rs1871498	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2307274	0.84[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6151431	1.00[AMR][1000 genomes]
rs6151435	1.00[AMR][1000 genomes]
rs6151476	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6151537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6151550	1.00[AMR][1000 genomes]
rs6151587	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6494134	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7180507	1.00[AMR][1000 genomes]
rs7180620	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74019651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039996	0.92[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041511	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806322	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1043693	chr15:59944471-59971500	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59949400-59960200	Weak transcription	Fetal Heart	heart
2	chr15:59949800-59954600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:59949800-59954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:59949800-59957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:59949800-59957200	Weak transcription	Spleen	Spleen
6	chr15:59949800-59963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:59949800-59964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:59949800-59968000	Weak transcription	Stomach Mucosa	stomach
9	chr15:59949800-59968400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59949800-59980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:59950000-59963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:59950200-59952400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:59950200-59952400	Weak transcription	HMEC	breast
14	chr15:59950200-59952400	Weak transcription	NH-A	brain
15	chr15:59950200-59952400	Weak transcription	Osteobl	bone
16	chr15:59950200-59952600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:59950200-59953000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:59950200-59953000	Weak transcription	HSMMtube	muscle
19	chr15:59950200-59954200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:59950200-59954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:59950200-59954400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:59950200-59954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:59950200-59954400	Weak transcription	NHEK	skin
24	chr15:59950200-59954600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:59950200-59954800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:59950200-59955200	Weak transcription	Fetal Brain Female	brain
27	chr15:59950200-59955400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:59950200-59955600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:59950200-59955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:59950200-59956800	Weak transcription	Fetal Intestine Small	intestine
31	chr15:59950200-59956800	Weak transcription	Fetal Stomach	stomach
32	chr15:59950200-59956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:59950200-59957000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:59950200-59958400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:59950200-59959200	Weak transcription	Fetal Brain Male	brain
36	chr15:59950200-59960200	Weak transcription	Colonic Mucosa	Colon
37	chr15:59950200-59961200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:59950200-59963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:59950200-59963400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:59950200-59963400	Weak transcription	Ovary	ovary
41	chr15:59950200-59964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:59950200-59964000	Weak transcription	Gastric	stomach
43	chr15:59950200-59964000	Weak transcription	Lung	lung
44	chr15:59950200-59964000	Weak transcription	Small Intestine	intestine
45	chr15:59950200-59967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:59950200-59968400	Weak transcription	Right Ventricle	heart
47	chr15:59950200-59968800	Weak transcription	Aorta	Aorta
48	chr15:59950400-59952400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:59950400-59952400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr15:59950400-59952400	Weak transcription	Fetal Intestine Large	intestine

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