Variant report

Variant	rs6470796
Chromosome Location	chr8:131064299-131064300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131062555..131064822-chr8:131096828..131099567,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10091313	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10113410	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs10956511	0.80[CHB][hapmap];0.82[CHD][hapmap]
rs11774690	0.80[CHB][hapmap]
rs11775292	0.80[CHB][hapmap];0.89[CHD][hapmap]
rs11780495	0.80[JPT][hapmap]
rs12546206	0.80[CHB][hapmap];0.92[CHD][hapmap];0.84[LWK][hapmap]
rs12677193	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13253189	0.88[LWK][hapmap];0.89[YRI][hapmap]
rs13256967	0.81[YRI][hapmap]
rs13269464	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs1563165	0.83[CHD][hapmap];0.81[GIH][hapmap]
rs17282526	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs1902016	0.80[JPT][hapmap]
rs1978551	0.88[YRI][hapmap]
rs2045092	0.94[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2123870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305513	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2395988	0.93[GIH][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap]
rs2554373	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs2554374	0.85[CHB][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap]
rs2670884	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2894508	0.80[CHB][hapmap]
rs3935174	0.80[CHB][hapmap]
rs4733568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733764	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733768	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs4733776	0.80[CHB][hapmap]
rs6470797	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470799	0.85[ASN][1000 genomes]
rs6470800	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs6470802	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470805	0.82[CHD][hapmap]
rs6991975	0.85[CHB][hapmap]
rs6992305	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs6996422	0.85[ASN][1000 genomes]
rs7003309	0.86[CHD][hapmap]
rs7004884	0.89[CHD][hapmap]
rs7015970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7018391	0.89[YRI][hapmap]
rs7386417	1.00[ASW][hapmap];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460645	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7464885	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs7816255	0.85[ASN][1000 genomes]
rs7833007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7834461	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7837226	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7846376	0.89[CHD][hapmap]
rs9297805	0.80[CHD][hapmap]
rs966185	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9942745	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv612245	chr8:131056677-131064299	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1808070	chr8:131061073-131065821	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv612259	chr8:131061371-131066848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6470796	ZNF445	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131055400-131064600	Weak transcription	HMEC	breast
3	chr8:131056000-131066600	Weak transcription	Hela-S3	cervix
4	chr8:131058000-131065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:131058000-131065400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:131058400-131065000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131058400-131065000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:131058400-131065200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131058400-131065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:131058400-131066400	Weak transcription	Ovary	ovary
11	chr8:131058400-131066600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:131058400-131066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
14	chr8:131058600-131066000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:131058600-131066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131058600-131068000	Weak transcription	Colonic Mucosa	Colon
17	chr8:131058800-131065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:131058800-131065200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:131058800-131066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:131058800-131066400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:131058800-131066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:131058800-131066800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:131058800-131068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:131058800-131068600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:131058800-131068800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:131059000-131065000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:131059000-131065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:131059000-131065200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:131059000-131065200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:131059000-131065400	Weak transcription	Brain Angular Gyrus	brain
32	chr8:131059000-131065600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:131059000-131066600	Weak transcription	Fetal Kidney	kidney
34	chr8:131059000-131066600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:131059200-131065000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:131059200-131065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:131059200-131065200	Weak transcription	HepG2	liver
38	chr8:131059200-131066400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:131059200-131066800	Weak transcription	Esophagus	oesophagus
40	chr8:131059200-131067200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:131059200-131068600	Weak transcription	GM12878-XiMat	blood
42	chr8:131059400-131065400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:131060800-131066600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:131061000-131065600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:131061000-131066600	Weak transcription	Gastric	stomach
46	chr8:131061200-131064800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:131061200-131065200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:131061200-131065400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:131061200-131066800	Weak transcription	K562	blood
50	chr8:131061200-131074600	Weak transcription	Psoas Muscle	Psoas

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