Variant report

Variant	rs6990312
Chromosome Location	chr8:110602317-110602318
allele	G/T
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	POLR2A	chr8:110602200-110602547	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:110599959..110602833-chr8:110655392..110657661,3	MCF-7	breast:
2	chr8:110601011..110602738-chr8:110605572..110607359,2	K562	blood:
3	chr8:110599166..110601638-chr8:110601697..110603770,2	MCF-7	breast:
4	chr8:110600715..110602433-chr8:110604852..110607355,2	MCF-7	breast:
5	chr8:110599717..110603274-chr8:110604163..110606425,3	MCF-7	breast:
6	chr8:110601515..110604234-chr8:110611916..110615052,3	MCF-7	breast:
7	chr8:110588326..110591138-chr8:110601427..110604344,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17450206	0.95[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs17450520	0.84[GIH][hapmap];0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs61734661	0.82[EUR][1000 genomes]
rs6982592	0.86[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs6988341	0.82[EUR][1000 genomes]
rs6989019	0.83[EUR][1000 genomes]
rs7824177	0.81[ASW][hapmap];0.93[GIH][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7828075	0.82[EUR][1000 genomes]

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	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
2	nsv519645	chr8:110602317-110613000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6990312	ANGPT1	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:110590000-110605600	Weak transcription	K562	blood
4	chr8:110590200-110654800	Weak transcription	Lung	lung
5	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:110592200-110604600	Weak transcription	Gastric	stomach
7	chr8:110594800-110606000	Weak transcription	Fetal Brain Male	brain
8	chr8:110596800-110608400	Enhancers	Fetal Intestine Large	intestine
9	chr8:110597800-110608400	Enhancers	Fetal Intestine Small	intestine
10	chr8:110598400-110602800	Enhancers	Liver	Liver
11	chr8:110598400-110605800	Weak transcription	Fetal Brain Female	brain
12	chr8:110598400-110607800	Weak transcription	Esophagus	oesophagus
13	chr8:110598600-110603600	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:110598800-110605400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:110598800-110615000	Weak transcription	Ovary	ovary
16	chr8:110599400-110603200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:110599600-110602400	Enhancers	Colon Smooth Muscle	Colon
18	chr8:110599800-110603400	Enhancers	Hela-S3	cervix
19	chr8:110600000-110603200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:110600000-110605000	Weak transcription	Colonic Mucosa	Colon
21	chr8:110600200-110604600	Weak transcription	Pancreas	Pancrea
22	chr8:110600600-110602400	Enhancers	HepG2	liver
23	chr8:110600600-110602600	Enhancers	HUVEC	blood vessel
24	chr8:110601000-110602400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:110601000-110602800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:110601000-110604400	Weak transcription	Small Intestine	intestine
27	chr8:110601000-110605200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr8:110601200-110602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:110601200-110602600	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:110601400-110602400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:110601400-110602400	Enhancers	Brain Angular Gyrus	brain
32	chr8:110601400-110602400	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:110601400-110602600	Enhancers	Adipose Nuclei	Adipose
34	chr8:110601400-110602600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:110601400-110603200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:110601400-110603400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:110601400-110603600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr8:110601600-110602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:110601600-110602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:110601600-110602400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:110601600-110602400	Enhancers	Psoas Muscle	Psoas
42	chr8:110601600-110602400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:110601600-110602600	Enhancers	Brain Anterior Caudate	brain
44	chr8:110601600-110602600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:110601600-110602600	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:110601600-110602800	Enhancers	Right Atrium	heart
47	chr8:110601800-110602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:110601800-110602400	Enhancers	Brain Germinal Matrix	brain
49	chr8:110601800-110602400	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:110601800-110604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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