Variant report

Variant	rs4735337
Chromosome Location	chr8:95973465-95973466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95972771..95975327-chr8:95979134..95982751,4	MCF-7	breast:
2	chr8:95972569..95974816-chr8:95983655..95986247,2	MCF-7	breast:
3	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10081474	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10086284	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10097617	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098778	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099059	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10099941	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10104909	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108430	0.94[ASN][1000 genomes]
rs1011795	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1011796	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10429294	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10429443	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10441538	0.84[CHB][hapmap]
rs10808671	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956929	0.85[CHB][hapmap]
rs10956930	1.00[CHB][hapmap]
rs10956931	1.00[CHB][hapmap]
rs10956932	1.00[CHB][hapmap]
rs10956933	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956934	0.83[EUR][1000 genomes]
rs1129152	0.86[CHB][hapmap]
rs11784717	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11996455	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs12386945	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545596	0.85[CHB][hapmap]
rs12548999	1.00[CHB][hapmap]
rs12549003	0.88[ASW][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs12679044	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1320164	0.94[ASN][1000 genomes]
rs13248607	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255935	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257021	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13266313	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270641	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271375	0.86[CHB][hapmap];0.81[GIH][hapmap]
rs13274945	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13278601	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281625	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281709	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349763	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1453377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453379	0.94[ASW][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16893776	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011566	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2123647	1.00[CHB][hapmap]
rs2340586	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28560301	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28591375	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716845	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879813	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945554	1.00[CHB][hapmap]
rs2956210	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2956216	0.85[CHB][hapmap]
rs3019175	0.93[CHB][hapmap]
rs3802193	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4582532	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734291	0.83[JPT][hapmap]
rs4734295	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs4735328	0.85[CHB][hapmap]
rs4735331	1.00[CHB][hapmap]
rs4735332	1.00[CHB][hapmap]
rs4735333	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735334	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4735335	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735336	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735338	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735339	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735340	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs477653	0.91[CHB][hapmap]
rs550418	0.92[CHB][hapmap]
rs550564	0.92[CHB][hapmap]
rs551270	0.85[CHB][hapmap]
rs61663478	0.94[ASN][1000 genomes]
rs6471499	0.85[CHB][hapmap]
rs6471500	0.85[CHB][hapmap]
rs6471502	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471503	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471504	0.86[CHB][hapmap]
rs683832	0.92[CHB][hapmap]
rs6982393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983000	0.85[CHB][hapmap]
rs6983948	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984240	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987256	0.85[CHB][hapmap]
rs6987752	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991067	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs6993278	0.89[AFR][1000 genomes]
rs7001535	1.00[CHB][hapmap]
rs7003387	0.94[ASN][1000 genomes]
rs7004862	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs7005317	0.85[CHB][hapmap]
rs7015841	1.00[CHB][hapmap]
rs7017487	1.00[CHB][hapmap]
rs726816	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815762	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819800	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7820818	1.00[CHB][hapmap]
rs7823059	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827478	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7845219	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap]
rs896846	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896847	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896851	0.92[CHB][hapmap]
rs896852	0.94[ASN][1000 genomes]
rs896853	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896854	0.85[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap]
rs896855	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297949	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643353	0.85[CHB][hapmap];0.89[JPT][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv818645	chr8:95967838-95974373	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4735337	LAPTM4B	cis	parietal	SCAN
rs4735337	RAD54B	cis	cerebellum	SCAN
rs4735337	LAPTM4B	cis	cerebellum	SCAN
rs4735337	INTS8	cis	lymphoblastoid	seeQTL
rs4735337	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs4735337	RBM12B	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
2	chr8:95962800-95974200	Weak transcription	Gastric	stomach
3	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
4	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:95962800-95980200	Weak transcription	Ovary	ovary
7	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
9	chr8:95963000-95980400	Weak transcription	HSMM	muscle
10	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
11	chr8:95963600-95973800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
13	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
14	chr8:95963600-95979600	Weak transcription	A549	lung
15	chr8:95963800-95973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:95964400-95973600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:95964400-95973800	Weak transcription	Osteobl	bone
19	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95964600-95973600	Weak transcription	Lung	lung
23	chr8:95964600-95979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:95964600-95980200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:95964600-95980600	Weak transcription	Fetal Brain Female	brain
26	chr8:95964600-95992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:95964800-95977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:95964800-95980400	Weak transcription	Brain Anterior Caudate	brain
29	chr8:95964800-95981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:95966000-95986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:95966000-95993000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:95966200-95975400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:95968800-95975400	Weak transcription	Spleen	Spleen
38	chr8:95970000-95973600	Enhancers	Fetal Heart	heart
39	chr8:95970000-95974200	Weak transcription	Right Atrium	heart
40	chr8:95970600-95976000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:95970600-96000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:95971000-95977000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:95971000-95977800	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:95971200-95973800	Enhancers	Fetal Intestine Small	intestine
45	chr8:95971200-95974600	Enhancers	Stomach Mucosa	stomach
46	chr8:95971400-95973600	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:95971400-95974400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:95971400-95974400	Enhancers	Fetal Intestine Large	intestine
49	chr8:95971400-95986800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:95971400-95987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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