Variant report

Variant	rs570799816
Chromosome Location	chr8:48877545-48877546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:48877529-48877775	K562	blood:	n/a	n/a
2	POLR2A	chr8:48877519-48878213	K562	blood:	n/a	n/a
3	POLR2A	chr8:48877532-48877764	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48877513-48877563	ECC-1	luminal epithelium:	n/a
2	chr8:48877513-48877563	RPTEC	kidney:	n/a
3	chr8:48877513-48877563	K562	blood:	n/a
4	chr8:48877513-48877563	T-47D	breast:	n/a
5	chr8:48877513-48877563	SK-N-SH	brain:	n/a
6	chr8:48877513-48877563	HPAEpiC	pulmonary alveolar:	n/a
7	chr8:48877513-48877563	GM19239	blood:	n/a
8	chr8:48877513-48877563	HUVEC	blood vessel:	n/a
9	chr8:48877513-48877563	AG10803	skin:	n/a
10	chr8:48877513-48877563	NB4	blood:	n/a
11	chr8:48877513-48877563	Hela-S3	cervix:	n/a
12	chr8:48877513-48877563	NH-A	brain:	n/a
13	chr8:48877513-48877563	SK-N-SH_RA	brain:	n/a
14	chr8:48877513-48877563	BE2_C	brain:	n/a
15	chr8:48877513-48877563	HCPEpiC	choroid plexus:	n/a
16	chr8:48877513-48877563	BJ	skin:	n/a
17	chr8:48877513-48877563	HEK293	kidney:	embryo
18	chr8:48877513-48877563	AG09309	skin:	n/a
19	chr8:48877513-48877563	GM12891	blood:	n/a
20	chr8:48877513-48877563	HCM	heart:	n/a
21	chr8:48877513-48877563	GM12892	blood:	n/a
22	chr8:48877513-48877563	SK-N-MC	brain:	n/a
23	chr8:48877513-48877563	ProgFib	skin:	n/a
24	chr8:48877513-48877563	HNPCEpiC	eye:	n/a
25	chr8:48877513-48877563	AG04450	lung:	fetal
26	chr8:48877513-48877563	Caco-2	colon:	n/a
27	chr8:48877513-48877563	HAEpiC	amniotic membrane:	n/a
28	chr8:48877513-48877563	HRE	kidney:	n/a
29	chr8:48877513-48877563	GM12878	blood:	n/a
30	chr8:48877513-48877563	HRPEpiC	eye:	n/a
31	chr8:48877513-48877563	Jurkat	blood:	n/a
32	chr8:48877513-48877563	SAEC	small airway:	n/a
33	chr8:48877513-48877563	AG04449	skin:	fetal
34	chr8:48877513-48877563	CMK	blood:	n/a
35	chr8:48877513-48877563	HEEpiC	esophagus:	n/a
36	chr8:48877513-48877563	HCF	heart:	n/a
37	chr8:48877513-48877563	HMEC	breast:	n/a
38	chr8:48877513-48877563	GM06990	blood:	n/a
39	chr8:48877513-48877563	NHDF-neo	bronchial:	n/a
40	chr8:48877513-48877563	HCT-116	colon:	n/a
41	chr8:48877513-48877563	NT2-D1	testis:	n/a
42	chr8:48877513-48877563	AG09319	gingival:	n/a
43	chr8:48877513-48877563	HL-60	blood:	n/a
44	chr8:48877513-48877563	Hepatocyte	liver:	n/a
45	chr8:48877513-48877563	A549	lung:	n/a
46	chr8:48877513-48877563	AoSMC	blood vessel:	n/a
47	chr8:48877513-48877563	LNCaP	prostate:	n/a
48	chr8:48877513-48877563	PANC-1	pancreas:	n/a
49	chr8:48877513-48877563	PFSK-1	brain:	n/a
50	chr8:48877513-48877563	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:

No data

Variant related genes	Relation type
PRKDC	TF binding region
MCM4	TF binding region
MCM4	CpG island
PRKDC	CpG island
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48874200-48877800	Weak transcription	Aorta	Aorta
2	chr8:48874400-48877600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:48874400-48877600	Weak transcription	Pancreas	Pancrea
4	chr8:48874400-48877800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:48874400-48877800	Weak transcription	Ovary	ovary
6	chr8:48874400-48878000	Weak transcription	Colonic Mucosa	Colon
7	chr8:48874400-48878000	Weak transcription	Psoas Muscle	Psoas
8	chr8:48874400-48878600	Weak transcription	HSMMtube	muscle
9	chr8:48874400-48881600	Weak transcription	Right Atrium	heart
10	chr8:48874400-48888800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:48874600-48877600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:48874600-48877800	Weak transcription	Primary B cells from cord blood	blood
13	chr8:48874600-48878000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:48874600-48878200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:48874600-48879600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:48874600-48888800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:48874600-48891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:48874600-48891800	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:48874800-48877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:48874800-48877600	Weak transcription	Lung	lung
21	chr8:48874800-48877600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:48874800-48877600	Weak transcription	Thymus	Thymus
23	chr8:48874800-48877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:48874800-48877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:48874800-48877800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:48874800-48877800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:48874800-48877800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:48874800-48877800	Weak transcription	Esophagus	oesophagus
29	chr8:48874800-48877800	Weak transcription	Fetal Brain Female	brain
30	chr8:48874800-48877800	Weak transcription	Gastric	stomach
31	chr8:48874800-48877800	Weak transcription	Right Ventricle	heart
32	chr8:48874800-48877800	Weak transcription	Spleen	Spleen
33	chr8:48874800-48878000	Weak transcription	Primary T cells from cord blood	blood
34	chr8:48874800-48878000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:48874800-48878200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:48874800-48878400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:48874800-48890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:48874800-48890400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:48874800-48890800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:48874800-48890800	Strong transcription	Placenta	Placenta
41	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
42	chr8:48875000-48877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:48875000-48877800	Weak transcription	Small Intestine	intestine
44	chr8:48875000-48877800	Weak transcription	NHLF	lung
45	chr8:48875000-48878000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:48875000-48878000	Weak transcription	Fetal Brain Male	brain
47	chr8:48875000-48878400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:48875000-48879400	Weak transcription	Fetal Heart	heart
49	chr8:48875000-48882000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:48875000-48887600	Strong transcription	Muscle Satellite Cultured Cells	--

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