Variant report

Variant	rs8036048
Chromosome Location	chr15:52345506-52345507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52344231..52347096-chr15:52361163..52363365,2	K562	blood:
2	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
3	chr15:52339219..52341051-chr15:52343518..52345839,3	MCF-7	breast:
4	chr15:52343651..52347096-chr15:52360408..52363365,3	K562	blood:
5	chr15:52310181..52316125-chr15:52344513..52354209,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10152141	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10518675	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12324384	0.83[EUR][1000 genomes]
rs12324807	0.83[EUR][1000 genomes]
rs13379854	0.83[EUR][1000 genomes]
rs16964694	0.93[ASN][1000 genomes]
rs16964700	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16964705	0.93[ASN][1000 genomes]
rs16964720	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17540338	0.90[ASN][1000 genomes]
rs17612255	0.87[ASN][1000 genomes]
rs17612326	0.90[ASN][1000 genomes]
rs2001741	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2017967	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2246726	0.81[ASN][1000 genomes]
rs2306793	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414123	0.93[ASN][1000 genomes]
rs2441779	0.81[ASN][1000 genomes]
rs2470593	0.81[ASN][1000 genomes]
rs2470594	0.81[ASN][1000 genomes]
rs2470595	0.83[ASN][1000 genomes]
rs2899484	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099571	0.86[EUR][1000 genomes]
rs4375608	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4456445	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4774606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775993	0.89[AMR][1000 genomes]
rs4775995	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4775996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55705935	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55714716	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55873482	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56307802	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56677715	0.90[ASN][1000 genomes]
rs58000475	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58936667	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61546369	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7177328	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7359204	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74013636	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74013638	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74013640	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74013641	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74013642	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74013644	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013645	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013646	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013647	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013648	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013653	0.93[ASN][1000 genomes]
rs74013654	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013656	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74013657	0.97[ASN][1000 genomes]
rs74013659	0.90[ASN][1000 genomes]
rs74013661	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7497554	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751560	0.93[ASN][1000 genomes]
rs8027276	0.83[EUR][1000 genomes]
rs8033365	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033840	0.95[ASN][1000 genomes]
rs8041281	0.81[ASN][1000 genomes]
rs9796534	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3449813	chr15:52345269-52345801	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 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	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
2	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
3	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
4	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
6	chr15:52332600-52361800	Weak transcription	Gastric	stomach
7	chr15:52333000-52348200	Weak transcription	HSMMtube	muscle
8	chr15:52333000-52350800	Weak transcription	Right Ventricle	heart
9	chr15:52333000-52351000	Weak transcription	Spleen	Spleen
10	chr15:52333200-52348600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
12	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
13	chr15:52334800-52350200	Weak transcription	Psoas Muscle	Psoas
14	chr15:52335000-52348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:52335400-52350800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:52335400-52350800	Weak transcription	Pancreas	Pancrea
17	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:52338200-52346200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:52338200-52347400	Weak transcription	Stomach Mucosa	stomach
21	chr15:52338200-52351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:52338400-52347400	Weak transcription	Brain Angular Gyrus	brain
23	chr15:52338600-52346800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:52338800-52345800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:52338800-52347000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:52339000-52349000	Strong transcription	Fetal Intestine Small	intestine
27	chr15:52339200-52345600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:52339200-52348800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:52339200-52351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:52339200-52351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:52339200-52351600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:52339400-52359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:52339600-52357000	Strong transcription	Fetal Intestine Large	intestine
34	chr15:52339800-52347000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:52340200-52346400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:52340200-52362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr15:52340400-52349800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr15:52341600-52357600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:52341800-52346400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:52341800-52347600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:52341800-52358000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:52342000-52346000	Strong transcription	Fetal Thymus	thymus
43	chr15:52342200-52346000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:52342400-52347000	Strong transcription	Dnd41	blood
45	chr15:52342600-52345600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:52342600-52346400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:52342800-52345600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:52342800-52346000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:52343000-52346200	Weak transcription	Adipose Nuclei	Adipose
50	chr15:52343000-52349800	Strong transcription	Fetal Muscle Leg	muscle

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