Variant report

Variant	rs1131857
Chromosome Location	chr3:98307696-98307697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:98307451-98307812	PBDE	blood:	n/a	n/a
2	POLR2A	chr3:98307389-98307850	HCT-116	colon:	n/a	n/a
3	POLR2A	chr3:98307369-98307832	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:98306181..98309113-chr3:98310458..98312557,3	K562	blood:
2	chr3:98307277..98308985-chr3:98312690..98314425,2	K562	blood:
3	chr3:98306990..98308896-chr3:98311622..98313547,2	MCF-7	breast:

Variant related genes	Relation type
CPOX	TF binding region
ENSG00000080819	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1000003	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs1381089	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1381091	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1461157	0.81[ASN][1000 genomes]
rs1531377	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs1616167	0.81[ASN][1000 genomes]
rs1675513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1675534	0.85[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs1729977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1729988	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34026496	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796137	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3796138	1.00[CHB][hapmap]
rs3796139	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs4857407	0.85[ASN][1000 genomes]
rs6440000	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs6440016	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap]
rs6440017	1.00[CHB][hapmap]
rs6440022	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs6790842	1.00[CHB][hapmap]
rs6803092	1.00[CHB][hapmap]
rs7611858	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7630058	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs7641726	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7653204	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs9840957	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1131857	ZBTB11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:98292400-98310400	Weak transcription	Small Intestine	intestine
4	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
5	chr3:98292600-98310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:98293200-98310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:98294400-98310400	Weak transcription	Colonic Mucosa	Colon
9	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
10	chr3:98294600-98308200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:98294800-98308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
13	chr3:98295000-98308000	Weak transcription	Brain Germinal Matrix	brain
14	chr3:98295200-98308200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:98295600-98309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:98296000-98310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:98296200-98310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:98296400-98308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:98296400-98310000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:98296600-98311200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:98296800-98309600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:98296800-98310800	Weak transcription	NHLF	lung
23	chr3:98297000-98309600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:98297400-98310400	Weak transcription	Hela-S3	cervix
25	chr3:98298200-98310800	Weak transcription	HUVEC	blood vessel
26	chr3:98299600-98308200	Weak transcription	Primary B cells from cord blood	blood
27	chr3:98299600-98309000	Weak transcription	Lung	lung
28	chr3:98299600-98311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:98300000-98308600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:98300000-98311200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:98301600-98307800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:98301800-98310000	Strong transcription	Liver	Liver
33	chr3:98302000-98309800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:98302400-98310000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:98302400-98310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:98302600-98308600	Strong transcription	Dnd41	blood
37	chr3:98302600-98309600	Strong transcription	Fetal Thymus	thymus
38	chr3:98302600-98310200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:98302600-98310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:98303000-98309400	Strong transcription	Fetal Stomach	stomach
41	chr3:98303600-98308200	Strong transcription	Fetal Intestine Large	intestine
42	chr3:98303600-98310000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr3:98303800-98310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:98304000-98309000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:98304400-98308200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:98304400-98311600	Weak transcription	Aorta	Aorta
47	chr3:98304600-98308200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:98304600-98308200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:98304600-98308200	Weak transcription	NH-A	brain
50	chr3:98304600-98308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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