Variant report

Variant	rs3136403
Chromosome Location	chr8:95450251-95450252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr8:95448550-95450519	U2OS	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95449447..95452097-chr8:95455615..95457152,2	K562	blood:
2	chr8:95448512..95450630-chr8:95487309..95488900,2	K562	blood:
3	chr8:95449237..95450737-chr8:95564769..95566376,2	K562	blood:
4	chr8:95448469..95450952-chr8:95730677..95732921,2	K562	blood:
5	chr8:95446159..95448906-chr8:95449268..95451697,2	K562	blood:

No data

Variant related genes	Relation type
FSBP	TF binding region
ENSG00000253704	Chromatin interaction
ENSG00000197275	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541117	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12548615	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916769	1.00[ASN][1000 genomes]
rs16916798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2028429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046663	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2381828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734277	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4735290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59233901	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654408	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991746	1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7845278	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
4	nsv891202	chr8:95445660-95456986	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95445600-95455000	Weak transcription	Dnd41	blood
4	chr8:95448000-95450600	Enhancers	Fetal Heart	heart
5	chr8:95448600-95450600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:95448800-95450600	Enhancers	Fetal Lung	lung
7	chr8:95448800-95450800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:95448800-95450800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:95448800-95457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:95449000-95451000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:95449000-95452800	Weak transcription	Pancreas	Pancrea
12	chr8:95449000-95452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:95449000-95455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:95449200-95451800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95449400-95450400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:95449400-95450600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:95449400-95450600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:95449400-95451000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:95449600-95450600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:95449600-95450800	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:95449600-95450800	Enhancers	HepG2	liver
24	chr8:95449600-95451000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:95449600-95451000	Enhancers	K562	blood
26	chr8:95449600-95451200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:95449600-95451800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:95449600-95452800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:95449600-95453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:95449600-95453000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:95449600-95454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:95449600-95455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:95449800-95450400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:95449800-95450400	Active TSS	Brain Anterior Caudate	brain
35	chr8:95449800-95450400	Enhancers	HMEC	breast
36	chr8:95449800-95450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:95449800-95450600	Enhancers	Hela-S3	cervix
38	chr8:95449800-95451000	Weak transcription	Small Intestine	intestine
39	chr8:95449800-95451200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:95449800-95451200	Enhancers	Brain Germinal Matrix	brain
41	chr8:95449800-95451200	Weak transcription	Stomach Mucosa	stomach
42	chr8:95449800-95452400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:95449800-95452600	Enhancers	Primary T cells from cord blood	blood
44	chr8:95449800-95452600	Weak transcription	Thymus	Thymus
45	chr8:95449800-95452800	Weak transcription	Primary B cells from cord blood	blood
46	chr8:95449800-95452800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:95449800-95452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:95449800-95452800	Weak transcription	Liver	Liver
49	chr8:95449800-95452800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:95449800-95453400	Weak transcription	Fetal Thymus	thymus

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