Variant report

Variant	rs7008447
Chromosome Location	chr8:110653697-110653698
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:7)
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	STAT3	chr8:110653640-110653840	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
2	chr8:110651964..110654489-chr8:110655242..110658219,2	MCF-7	breast:
3	chr8:110552227..110553856-chr8:110652244..110654868,2	MCF-7	breast:
4	chr8:110649788..110653968-chr8:110654410..110658481,7	K562	blood:
5	chr8:110356541..110358567-chr8:110652716..110654323,2	K562	blood:
6	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
7	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248050	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090145	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10505131	0.94[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10505132	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11774663	0.97[ASN][1000 genomes]
rs11986510	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994796	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11998387	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13256586	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13268243	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573853	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2702	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108829	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108832	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108837	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108840	0.87[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3108853	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108862	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108863	0.92[EUR][1000 genomes]
rs3108864	0.92[EUR][1000 genomes]
rs3108865	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108869	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133926	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3133927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133935	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3133936	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3133937	0.87[ASN][1000 genomes]
rs3134314	0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3134317	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134319	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134325	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134331	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469275	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7008447	PKHD1L1	cis	lymphoblastoid	seeQTL
rs7008447	SYBU	cis	parietal	SCAN
rs7008447	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
3	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
4	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:110633200-110656000	Weak transcription	Gastric	stomach
7	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:110650600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
13	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:110652000-110654600	Weak transcription	Fetal Brain Male	brain
16	chr8:110652400-110654800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:110652400-110654800	Weak transcription	K562	blood
18	chr8:110652400-110655000	Weak transcription	HMEC	breast
19	chr8:110652400-110655000	Weak transcription	NHLF	lung
20	chr8:110652400-110655200	Weak transcription	NHEK	skin
21	chr8:110652400-110655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:110652400-110655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:110652600-110654800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:110652600-110655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:110652600-110655000	Weak transcription	Stomach Mucosa	stomach
26	chr8:110652800-110653800	Enhancers	HepG2	liver
27	chr8:110652800-110654000	Flanking Active TSS	Liver	Liver
28	chr8:110652800-110654800	Weak transcription	Pancreas	Pancrea
29	chr8:110652800-110655000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:110652800-110655200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:110652800-110655800	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:110653000-110655600	Weak transcription	A549	lung
33	chr8:110653400-110654000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:110653400-110655400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:110653600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:110653600-110653800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:110653600-110653800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr8:110653600-110653800	Enhancers	GM12878-XiMat	blood
39	chr8:110653600-110654200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:110653600-110656000	Weak transcription	Psoas Muscle	Psoas

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