Variant report

Variant	rs41323951
Chromosome Location	chr8:108509332-108509333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:108509309-108510549	MCF10A-Er-Src	breast:	n/a	chr8:108509468-108509479
2	CTCF	chr8:108509260-108509410	Hela-S3	cervix:	n/a	n/a
3	MYC	chr8:108508800-108509960	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr8:108509297-108509405	GM12892	blood:	n/a	n/a
5	MYC	chr8:108509200-108510277	NB4	blood:	n/a	n/a
6	POLR2A	chr8:108507229-108510408	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:108509298-108510376	MCF10A-Er-Src	breast:	n/a	chr8:108509737-108509748 chr8:108510240-108510247 chr8:108510083-108510093
8	CTCF	chr8:108509260-108509410	AG09309	skin:	n/a	n/a
9	CTCF	chr8:108509260-108509410	GM06990	blood:	n/a	n/a
10	CTCF	chr8:108509260-108509410	GM12873	blood:	n/a	n/a
11	CTCF	chr8:108509320-108509470	A549	lung:	n/a	n/a
12	CTCF	chr8:108509304-108509462	K562	blood:	n/a	n/a
13	CTCF	chr8:108509320-108509470	GM12872	blood:	n/a	n/a
14	CTCF	chr8:108509320-108509470	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr8:108509240-108509390	BE2_C	brain:	n/a	n/a
16	CTCF	chr8:108509240-108509390	HMEC	breast:	n/a	n/a
17	CTCF	chr8:108509325-108509441	GM12878	blood:	n/a	n/a
18	CTCF	chr8:108509260-108509410	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr8:108509280-108509440	GM19240	blood:	n/a	n/a
20	CTCF	chr8:108509327-108509357	GM20000	blood:	n/a	n/a
21	RAD21	chr8:108509205-108509598	A549	lung:	n/a	chr8:108509371-108509383
22	CTCF	chr8:108509300-108509450	GM12864	blood:	n/a	n/a
23	MAX	chr8:108509222-108509976	A549	lung:	n/a	n/a
24	RCOR1	chr8:108509259-108509418	K562	blood:	n/a	n/a
25	MAX	chr8:108509215-108510416	NB4	blood:	n/a	n/a
26	CTCF	chr8:108509280-108509430	GM12871	blood:	n/a	n/a
27	CTCF	chr8:108509280-108509430	AG04449	skin:	n/a	n/a
28	CTCF	chr8:108509280-108509430	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr8:108509280-108509430	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr8:108509260-108509410	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr8:108509260-108509410	HCM	heart:	n/a	n/a
32	CTCF	chr8:108509240-108509390	GM12865	blood:	n/a	n/a
33	CTCF	chr8:108509194-108509586	GM12878	blood:	n/a	n/a
34	CTCF	chr8:108509310-108509479	GM10248	blood:	n/a	n/a
35	CTCF	chr8:108509200-108509350	HCT-116	colon:	n/a	n/a
36	CTCF	chr8:108509280-108509430	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr8:108509278-108509449	A549	lung:	n/a	n/a
38	CTCF	chr8:108509280-108509430	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr8:108509280-108509430	GM12878	blood:	n/a	n/a
40	CTCF	chr8:108509313-108509416	Fibrobl	skin:	n/a	n/a
41	CTCF	chr8:108509299-108509379	MCF-7	breast:	n/a	n/a
42	TCF12	chr8:108509091-108509924	A549	lung:	n/a	n/a
43	CTCF	chr8:108509300-108509450	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr8:108509220-108509370	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:108509240-108509390	GM12866	blood:	n/a	n/a
46	CTCF	chr8:108509260-108509410	HAc	cerebellar:	n/a	n/a
47	CTCF	chr8:108509240-108509390	GM12869	blood:	n/a	n/a
48	SIN3AK20	chr8:108509286-108509844	PFSK-1	brain:	n/a	n/a
49	CTCF	chr8:108509240-108509390	HAc	cerebellar:	n/a	n/a
50	CTCF	chr8:108509320-108509470	AG04450	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108507981..108510207-chr8:108513209..108515922,2	K562	blood:

No data

Variant related genes	Relation type
ANGPT1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10086467	0.82[ASN][1000 genomes]
rs10087541	0.80[EUR][1000 genomes]
rs12546710	0.82[ASN][1000 genomes]
rs1433172	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1433174	0.80[EUR][1000 genomes]
rs17301273	0.80[ASN][1000 genomes]
rs17302560	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1836031	0.82[ASN][1000 genomes]
rs4734973	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56163052	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv611862	chr8:108504907-108513341	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv1845767	chr8:108504907-108515373	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1849422	chr8:108504907-108515373	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825455	chr8:108504907-108518274	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108506600-108509800	Active TSS	Fetal Kidney	kidney
2	chr8:108506600-108510200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:108506800-108510400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:108506800-108510600	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:108507000-108509600	Active TSS	Brain Anterior Caudate	brain
6	chr8:108507000-108510000	Active TSS	Adipose Nuclei	Adipose
7	chr8:108507000-108510000	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:108507000-108510200	Active TSS	Ovary	ovary
9	chr8:108507000-108510200	Active TSS	Right Atrium	heart
10	chr8:108507200-108510000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:108507200-108510200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:108507200-108510200	Active TSS	Brain Hippocampus Middle	brain
13	chr8:108507200-108510200	Active TSS	Fetal Lung	lung
14	chr8:108507200-108510200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:108507200-108510400	Active TSS	Aorta	Aorta
16	chr8:108507400-108510000	Active TSS	Brain Angular Gyrus	brain
17	chr8:108507400-108510200	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:108507400-108510200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:108507400-108510200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:108507400-108510400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108507400-108510400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:108507600-108510000	Active TSS	Psoas Muscle	Psoas
23	chr8:108507600-108510000	Active TSS	Osteobl	bone
24	chr8:108507600-108510200	Active TSS	Fetal Stomach	stomach
25	chr8:108507600-108510200	Active TSS	Right Ventricle	heart
26	chr8:108507600-108510200	Active TSS	NHLF	lung
27	chr8:108507600-108510400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:108507600-108510400	Flanking Active TSS	HUVEC	blood vessel
29	chr8:108507800-108510000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr8:108507800-108510200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:108507800-108510200	Active TSS	Brain Substantia Nigra	brain
32	chr8:108507800-108510200	Active TSS	NHDF-Ad	bronchial
33	chr8:108508200-108509400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:108508200-108509600	Active TSS	Duodenum Mucosa	Duodenum
35	chr8:108508200-108509800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr8:108508200-108509800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:108508200-108509800	Active TSS	HSMMtube	muscle
38	chr8:108508200-108510000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:108508200-108510000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:108508200-108510000	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:108508200-108510200	Active TSS	Colon Smooth Muscle	Colon
42	chr8:108508200-108510200	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:108508200-108510200	Active TSS	HSMM	muscle
44	chr8:108508400-108509400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:108508400-108509600	Active TSS	Fetal Thymus	thymus
46	chr8:108508400-108510000	Active TSS	Fetal Intestine Large	intestine
47	chr8:108508400-108510000	Active TSS	Left Ventricle	heart
48	chr8:108508400-108510000	Active TSS	NH-A	brain
49	chr8:108508400-108510200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:108508400-108510200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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