Variant report

Variant	rs6982393
Chromosome Location	chr8:95980708-95980709
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	chr8:95972771..95975327-chr8:95979134..95982751,4	MCF-7	breast:
2	chr8:95958611..95965751-chr8:95975918..95982196,8	MCF-7	breast:
3	chr8:95979420..95981585-chr8:96022909..96025497,2	MCF-7	breast:
4	chr8:95979244..95983291-chr8:95999970..96003553,4	MCF-7	breast:
5	chr8:95977216..95979367-chr8:95979972..95982886,3	K562	blood:
6	chr8:95959560..95963083-chr8:95975054..95981497,8	MCF-7	breast:
7	chr8:95979576..95981944-chr8:95985170..95988290,3	MCF-7	breast:
8	chr8:95975782..95977350-chr8:95979734..95982719,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000253528	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10081474	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10086284	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10097617	0.84[EUR][1000 genomes];0.93[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];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10099059	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10099941	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104909	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108430	0.93[ASN][1000 genomes]
rs1011795	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1011796	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10429294	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10429443	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10441538	0.84[CHB][hapmap]
rs10808671	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956929	0.85[CHB][hapmap]
rs10956930	1.00[CHB][hapmap]
rs10956931	1.00[CHB][hapmap]
rs10956932	1.00[CHB][hapmap]
rs10956933	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956934	0.82[AMR][1000 genomes];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	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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];0.83[AFR][1000 genomes]
rs12679044	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1320164	0.93[ASN][1000 genomes]
rs13248607	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13255935	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13257021	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13266313	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270641	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13271375	0.86[CHB][hapmap];0.81[GIH][hapmap]
rs13274945	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278601	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13281625	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13281709	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1349763	1.00[YRI][hapmap];0.91[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];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453379	0.94[ASW][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.91[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];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011566	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084968	0.81[AFR][1000 genomes]
rs2123647	1.00[CHB][hapmap]
rs2340586	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28560301	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28591375	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716845	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2879813	0.88[EUR][1000 genomes];0.93[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	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[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];0.94[ASN][1000 genomes]
rs4735334	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4735335	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735337	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]
rs4735338	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735340	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs477653	0.91[CHB][hapmap]
rs550418	0.92[CHB][hapmap]
rs550564	0.92[CHB][hapmap]
rs551270	0.85[CHB][hapmap]
rs61663478	0.93[ASN][1000 genomes]
rs6471499	0.85[CHB][hapmap]
rs6471500	0.85[CHB][hapmap]
rs6471502	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471503	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471504	0.86[CHB][hapmap]
rs683832	0.92[CHB][hapmap]
rs6983000	0.85[CHB][hapmap]
rs6983948	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984240	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6987256	0.85[CHB][hapmap]
rs6987752	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991067	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs6993278	0.91[AFR][1000 genomes]
rs7001535	1.00[CHB][hapmap]
rs7003387	0.93[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];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7815762	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819800	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820818	1.00[CHB][hapmap]
rs7823059	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896847	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896851	0.92[CHB][hapmap]
rs896852	0.93[ASN][1000 genomes]
rs896853	0.86[EUR][1000 genomes];0.93[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];0.94[ASN][1000 genomes]
rs9297949	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643353	0.85[CHB][hapmap];0.89[JPT][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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6982393	LAPTM4B	cis	parietal	SCAN
rs6982393	LAPTM4B	cis	cerebellum	SCAN
rs6982393	RAD54B	cis	cerebellum	SCAN
rs6982393	RBM12B	cis	cerebellum	SCAN
rs6982393	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs6982393	INTS8	cis	lymphoblastoid	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:95964600-95992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:95964800-95981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:95966000-95986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:95966000-95993000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:95970600-96000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:95971400-95986800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:95971400-95987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:95971600-95983800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:95971600-95987000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:95971600-95987000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:95971600-95987200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:95971600-96000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:95971800-95986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:95972400-95980800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:95972400-95994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:95972600-95987600	Weak transcription	HMEC	breast
22	chr8:95973000-95987000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:95973600-95981800	Enhancers	Pancreas	Pancrea
24	chr8:95974400-96002000	Weak transcription	Esophagus	oesophagus
25	chr8:95974600-95987000	Weak transcription	Thymus	Thymus
26	chr8:95975800-95981000	Enhancers	Osteobl	bone
27	chr8:95976200-95990000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:95976600-95981000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:95976600-95993200	Weak transcription	Primary T cells from cord blood	blood
30	chr8:95976800-95988800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:95977000-95981800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:95977400-95989600	Weak transcription	Fetal Stomach	stomach
33	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
34	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:95977800-95980800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:95979000-95981000	Enhancers	Right Atrium	heart
37	chr8:95979000-95982400	Enhancers	Liver	Liver
38	chr8:95979200-95980800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:95979200-95980800	Enhancers	NHDF-Ad	bronchial
40	chr8:95979200-95981000	Enhancers	Adipose Nuclei	Adipose
41	chr8:95979200-95983800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:95979400-95980800	Enhancers	Colon Smooth Muscle	Colon
43	chr8:95979400-95981000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:95979400-95981000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:95979400-95981000	Enhancers	Left Ventricle	heart
46	chr8:95979400-95981000	Enhancers	NHLF	lung
47	chr8:95979400-95981600	Enhancers	Stomach Mucosa	stomach
48	chr8:95979400-95982600	Enhancers	K562	blood
49	chr8:95979400-95986200	Weak transcription	Dnd41	blood
50	chr8:95979600-95980800	Enhancers	Duodenum Smooth Muscle	Duodenum

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