Variant report

Variant	rs4735328
Chromosome Location	chr8:95838438-95838439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95836909..95838955-chr8:95907665..95909359,2	K562	blood:
2	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
3	chr8:95837308..95840222-chr8:95842843..95845160,2	K562	blood:
4	chr8:95825181..95829614-chr8:95834341..95841614,7	MCF-7	breast:
5	chr8:95837420..95840153-chr8:95849524..95852772,3	MCF-7	breast:
6	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
7	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10086284	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10091683	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10098778	0.85[CHB][hapmap]
rs10099941	0.85[CHB][hapmap]
rs10104909	0.85[CHB][hapmap]
rs1011795	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1011796	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs10956928	0.85[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956929	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956930	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10956931	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs10956932	0.85[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11784717	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs12545596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12548999	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12549003	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12550765	0.90[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12677346	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679044	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs13255935	0.85[CHB][hapmap]
rs13257021	0.85[CHB][hapmap]
rs1453377	0.85[CHB][hapmap]
rs1453379	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs16893776	0.85[CHB][hapmap]
rs2123647	0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs2278891	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2924477	0.87[EUR][1000 genomes]
rs2945554	0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2956210	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs2956216	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3019175	0.93[JPT][hapmap]
rs3019182	0.87[EUR][1000 genomes]
rs3133462	0.83[AMR][1000 genomes]
rs3802193	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4382440	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4734291	0.87[JPT][hapmap]
rs4735310	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735312	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4735331	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4735332	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4735334	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs4735336	0.85[CHB][hapmap]
rs4735337	0.85[CHB][hapmap]
rs4735339	0.85[CHB][hapmap]
rs477653	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs535322	0.87[EUR][1000 genomes]
rs550418	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs550564	0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs551270	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61537129	0.94[EUR][1000 genomes]
rs6471497	0.91[CEU][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6471498	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471499	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6471500	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471503	0.85[CHB][hapmap]
rs683832	0.82[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs6982393	0.85[CHB][hapmap]
rs6983000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6986659	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6987256	1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7001535	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7002058	0.83[CHB][hapmap]
rs7005317	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];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013163	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015841	0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs7017487	0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs726816	0.92[CHB][hapmap]
rs7820818	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7827478	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7839728	0.93[EUR][1000 genomes]
rs7845219	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs896851	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs896854	0.85[CHB][hapmap]
rs9643353	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4735328	ESRP1	cis	parietal	SCAN
rs4735328	SLC26A7	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836200-95840800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95836200-95840800	Weak transcription	Esophagus	oesophagus
3	chr8:95836200-95840800	Weak transcription	Gastric	stomach
4	chr8:95836200-95841200	Weak transcription	Spleen	Spleen
5	chr8:95836200-95841600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:95836200-95846000	Weak transcription	Lung	lung
7	chr8:95836600-95840000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:95836600-95841200	Weak transcription	Pancreas	Pancrea
9	chr8:95836600-95841400	Weak transcription	Aorta	Aorta
10	chr8:95836600-95848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:95836800-95838600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:95836800-95838800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:95836800-95839400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:95836800-95839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:95836800-95839400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:95836800-95839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:95836800-95839600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:95836800-95839800	Weak transcription	A549	lung
19	chr8:95836800-95840800	Weak transcription	Left Ventricle	heart
20	chr8:95836800-95841400	Weak transcription	Ovary	ovary
21	chr8:95836800-95841400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:95836800-95845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:95836800-95847000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
25	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:95837000-95838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:95837000-95838800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:95837000-95839000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:95837000-95839400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:95837000-95839400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:95837000-95839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:95837000-95839600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:95837000-95839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:95837000-95839600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:95837000-95840000	Weak transcription	Fetal Stomach	stomach
37	chr8:95837000-95840200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:95837000-95840400	Weak transcription	Placenta	Placenta
39	chr8:95837000-95840600	Weak transcription	NHDF-Ad	bronchial
40	chr8:95837000-95840800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:95837000-95840800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:95837000-95840800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:95837000-95840800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:95837000-95840800	Weak transcription	Colonic Mucosa	Colon
45	chr8:95837000-95840800	Weak transcription	Fetal Kidney	kidney
46	chr8:95837000-95840800	Weak transcription	Fetal Lung	lung
47	chr8:95837000-95841200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:95837000-95841200	Weak transcription	Brain Anterior Caudate	brain
49	chr8:95837000-95841200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:95837000-95841200	Weak transcription	Rectal Smooth Muscle	rectum

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