Variant report

Variant	rs4775995
Chromosome Location	chr15:52327502-52327503
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	chr15:52327404..52329717-chr15:52360419..52362718,2	MCF-7	breast:
2	chr15:52317535..52326388-chr15:52327451..52335331,11	K562	blood:
3	chr15:52263660..52265613-chr15:52326939..52329889,3	MCF-7	breast:
4	chr15:52313118..52316334-chr15:52326063..52329741,3	K562	blood:
5	chr15:52311192..52314853-chr15:52323962..52330649,8	K562	blood:
6	chr15:52326795..52330431-chr15:52332202..52336988,5	K562	blood:
7	chr15:52326795..52330431-chr15:52334288..52336988,4	K562	blood:
8	chr15:52327199..52328744-chr15:52329099..52330957,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000069956	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000259398	Chromatin interaction
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10152141	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10518675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324384	0.83[EUR][1000 genomes]
rs12324807	0.83[EUR][1000 genomes]
rs13379854	0.83[EUR][1000 genomes]
rs16964694	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16964700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16964705	0.98[ASN][1000 genomes]
rs16964720	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17540338	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs17612255	0.93[ASN][1000 genomes]
rs17612326	0.85[ASN][1000 genomes]
rs2001741	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2017967	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246726	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2306793	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414120	0.84[ASN][1000 genomes]
rs2414123	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2441779	0.86[ASN][1000 genomes]
rs2470593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2470594	0.86[ASN][1000 genomes]
rs2470595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2554321	1.00[GIH][hapmap]
rs2554340	0.84[ASN][1000 genomes]
rs2554341	1.00[GIH][hapmap]
rs2593189	1.00[GIH][hapmap]
rs2899484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3099571	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4375608	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4456445	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4491448	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4774606	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775993	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775996	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775997	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs55705935	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55714716	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55873482	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56307802	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56677715	0.95[ASN][1000 genomes]
rs58000475	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58936667	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61546369	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177328	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs732097	0.89[CHB][hapmap]
rs7359204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74013636	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74013638	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013640	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013641	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013642	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013644	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013645	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013647	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013648	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013653	0.98[ASN][1000 genomes]
rs74013654	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013656	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74013657	0.93[ASN][1000 genomes]
rs74013659	0.85[ASN][1000 genomes]
rs74013661	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7497554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8027276	0.83[EUR][1000 genomes]
rs8033365	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033840	0.95[ASN][1000 genomes]
rs8036048	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8041281	0.86[ASN][1000 genomes]
rs9796534	0.82[AMR][1000 genomes];0.93[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	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52313800-52329400	Weak transcription	Fetal Heart	heart
3	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
4	chr15:52314600-52330600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:52314600-52332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:52314800-52329400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:52314800-52330200	Weak transcription	Ovary	ovary
8	chr15:52314800-52330200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:52314800-52331200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:52315200-52331800	Weak transcription	Colonic Mucosa	Colon
11	chr15:52315600-52329400	Weak transcription	Right Atrium	heart
12	chr15:52315600-52332200	Weak transcription	NHLF	lung
13	chr15:52315800-52328400	Weak transcription	Adipose Nuclei	Adipose
14	chr15:52316000-52330400	Weak transcription	Psoas Muscle	Psoas
15	chr15:52316000-52330600	Weak transcription	Pancreas	Pancrea
16	chr15:52316000-52332200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:52317400-52330600	Weak transcription	Small Intestine	intestine
18	chr15:52317400-52332200	Weak transcription	Lung	lung
19	chr15:52321200-52328200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:52321200-52332200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:52321400-52331800	Weak transcription	Primary T cells from cord blood	blood
22	chr15:52322400-52328200	Weak transcription	Liver	Liver
23	chr15:52322400-52329400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:52322400-52330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:52322400-52331400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:52322400-52332200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:52322400-52332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:52322600-52328200	Weak transcription	Brain Substantia Nigra	brain
29	chr15:52322600-52328400	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:52322600-52329400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:52322600-52329600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:52322600-52329800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:52322600-52329800	Weak transcription	Brain Anterior Caudate	brain
34	chr15:52322600-52330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:52322800-52331200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:52322800-52331400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:52322800-52331400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:52322800-52332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:52324800-52328200	Weak transcription	NHEK	skin
40	chr15:52325000-52327800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr15:52325000-52329800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:52325200-52327600	Genic enhancers	HepG2	liver
43	chr15:52325400-52327600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr15:52325400-52329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:52325600-52327600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:52325600-52331200	Weak transcription	Esophagus	oesophagus
47	chr15:52325800-52329400	Weak transcription	Right Ventricle	heart
48	chr15:52325800-52329600	Weak transcription	Left Ventricle	heart
49	chr15:52325800-52329800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:52325800-52329800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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