Variant report

Variant	rs35352031
Chromosome Location	chr8:67344005-67344006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:67343571-67345420	IMR90	lung:	n/a	n/a
2	POLR2A	chr8:67343925-67345362	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr8:67343751-67345345	IMR90	lung:	n/a	n/a
4	POLR2A	chr8:67343537-67346745	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr8:67343902-67345643	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr8:67343818-67345476	IMR90	lung:	n/a	chr8:67344670-67344680
7	POLR2A	chr8:67343877-67345224	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
2	chr8:67342992..67344694-chr8:67430908..67432583,2	MCF-7	breast:
3	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
4	chr8:66753039..66754980-chr8:67343764..67346186,2	K562	blood:
5	chr8:67343368..67345307-chr8:67372235..67374136,2	K562	blood:
6	chr8:67038868..67041219-chr8:67343383..67346327,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246145	TF binding region
ADHFE1	TF binding region
ENSG00000147573	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1030421	1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs1060242	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1108	0.81[JPT][hapmap]
rs13682	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1426910	0.85[ASN][1000 genomes]
rs1426912	0.85[ASN][1000 genomes]
rs1426913	0.85[ASN][1000 genomes]
rs16919046	0.88[CEU][hapmap]
rs2059640	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2059641	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2059642	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2555568	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2555570	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2555572	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2555574	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2719004	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2719005	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2719008	0.91[CHB][hapmap]
rs3739334	0.89[MEX][hapmap]
rs3739337	0.89[MEX][hapmap]
rs3739338	0.88[CEU][hapmap]
rs4737227	0.88[CEU][hapmap]
rs4737229	0.88[CEU][hapmap]
rs55878528	0.81[ASN][1000 genomes]
rs57269222	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57564124	0.82[ASN][1000 genomes]
rs7003558	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7009437	0.88[CEU][hapmap]
rs7014980	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7819605	0.85[ASN][1000 genomes]
rs7828145	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35352031	PDE7A	cis	parietal	SCAN
rs35352031	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:67340200-67345200	Active TSS	NHLF	lung
4	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
7	chr8:67340200-67345400	Active TSS	Right Atrium	heart
8	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:67340400-67345000	Active TSS	HepG2	liver
11	chr8:67340400-67345000	Active TSS	HSMMtube	muscle
12	chr8:67340400-67345200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:67340400-67345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:67340400-67345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:67340400-67345400	Active TSS	Ovary	ovary
16	chr8:67340400-67345400	Active TSS	Psoas Muscle	Psoas
17	chr8:67340400-67345400	Active TSS	Right Ventricle	heart
18	chr8:67340400-67345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:67340600-67344200	Active TSS	K562	blood
20	chr8:67340600-67344800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:67340600-67345000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:67340600-67345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:67340600-67345000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:67340600-67345000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:67340600-67345000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:67340600-67345000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:67340600-67345000	Active TSS	Pancreas	Pancrea
28	chr8:67340600-67345000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:67340600-67345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:67340600-67345800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:67340800-67344800	Active TSS	HMEC	breast
32	chr8:67340800-67345000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:67340800-67345000	Active TSS	NH-A	brain
34	chr8:67340800-67345200	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr8:67340800-67345200	Active TSS	GM12878-XiMat	blood
36	chr8:67341000-67345200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:67341200-67344600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr8:67341200-67345800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:67341400-67344600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:67341600-67344200	Transcr. at gene 5' and 3'	A549	lung
41	chr8:67341600-67344600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:67341800-67344400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr8:67341800-67344600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr8:67342000-67344200	Flanking Active TSS	Liver	Liver
45	chr8:67342000-67344400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr8:67342000-67344600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:67342000-67344600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr8:67342200-67344400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr8:67342200-67344400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:67342200-67344600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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