Variant report

Variant	rs4841452
Chromosome Location	chr8:10687121-10687122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10687103..10689280-chr8:10695921..10698730,3	MCF-7	breast:
2	chr8:10683001..10685748-chr8:10686026..10689497,3	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10046628	0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs10089153	0.93[CHB][hapmap]
rs10091386	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10093774	0.91[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10097283	0.82[EUR][1000 genomes]
rs10098699	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10099929	0.93[ASN][1000 genomes]
rs10100209	0.82[CEU][hapmap]
rs10109416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10109550	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs10481451	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1073913	0.81[EUR][1000 genomes]
rs10903330	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs11250073	0.81[YRI][hapmap]
rs11250077	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11250078	0.93[EUR][1000 genomes]
rs11250081	0.93[ASN][1000 genomes]
rs11250083	0.93[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11776674	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11776767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11986845	0.91[ASN][1000 genomes]
rs11986935	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11996727	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12541110	0.94[ASN][1000 genomes]
rs12542888	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs12676417	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13254059	0.86[ASN][1000 genomes]
rs13254592	0.86[ASN][1000 genomes]
rs13274017	0.98[ASN][1000 genomes]
rs1469556	0.93[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1549796	0.96[ASN][1000 genomes]
rs17152576	0.98[ASN][1000 genomes]
rs1991649	0.87[ASN][1000 genomes]
rs1991650	0.93[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1991651	0.91[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2005309	0.81[EUR][1000 genomes]
rs2116095	0.86[CEU][hapmap]
rs2271355	0.92[JPT][hapmap]
rs2271357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2277130	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278335	0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2292370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2292371	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2409649	1.00[ASN][1000 genomes]
rs2409650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2409658	0.94[EUR][1000 genomes]
rs2409669	0.91[CEU][hapmap];0.83[YRI][hapmap]
rs28613656	0.94[ASN][1000 genomes]
rs2898248	0.83[CEU][hapmap]
rs34653170	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35091929	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808603	0.86[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4240670	0.92[EUR][1000 genomes]
rs4321967	0.92[CEU][hapmap]
rs4504595	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4551304	0.92[EUR][1000 genomes]
rs4593498	0.82[EUR][1000 genomes]
rs4840516	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs4840519	0.95[ASN][1000 genomes]
rs6601522	0.82[CEU][hapmap]
rs6601523	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs6601529	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6601530	0.83[CEU][hapmap]
rs6601533	0.99[ASN][1000 genomes]
rs6601534	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6601535	0.94[ASN][1000 genomes]
rs6601536	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs66844016	1.00[ASN][1000 genomes]
rs67211633	0.98[ASN][1000 genomes]
rs6980805	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6982769	1.00[ASN][1000 genomes]
rs6984388	1.00[ASN][1000 genomes]
rs6985890	0.80[ASN][1000 genomes]
rs6987200	1.00[ASN][1000 genomes]
rs6988598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6989160	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6989846	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs6990055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6990589	0.85[CHB][hapmap]
rs6991499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6991526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6992366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6993121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6993841	0.82[CEU][hapmap]
rs7000939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7001887	0.93[ASN][1000 genomes]
rs7002282	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7004998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7005531	0.85[CHB][hapmap]
rs7005905	0.82[CEU][hapmap]
rs7010680	0.89[ASN][1000 genomes]
rs7010709	0.85[CHB][hapmap]
rs7012206	0.94[ASN][1000 genomes]
rs7013032	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs7018334	0.82[EUR][1000 genomes]
rs7814757	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[EUR][1000 genomes]
rs7818181	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7824384	0.86[CHB][hapmap]
rs7825100	0.97[ASN][1000 genomes]
rs7829089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7829201	0.99[ASN][1000 genomes]
rs7830317	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7830431	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7833945	0.91[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7834466	0.81[YRI][hapmap]
rs7836366	0.82[CEU][hapmap]
rs7840785	0.93[CHB][hapmap]
rs7846449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9969626	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
10	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4841452	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
4	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
8	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
10	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:10674000-10690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
28	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
30	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:10678400-10692000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
37	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:10679600-10691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:10679600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:10680400-10687200	Strong transcription	HMEC	breast
42	chr8:10680400-10692000	Strong transcription	Adipose Nuclei	Adipose
43	chr8:10680400-10692000	Strong transcription	Fetal Intestine Large	intestine
44	chr8:10680400-10692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:10680400-10692800	Strong transcription	Dnd41	blood
48	chr8:10680600-10691000	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr8:10680600-10691000	Strong transcription	HSMMtube	muscle
50	chr8:10680600-10691800	Strong transcription	Lung	lung

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