Variant report

Variant	rs7014597
Chromosome Location	chr8:104152280-104152281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
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	chr8:104151974-104153028	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104152279-104152329	HAEpiC	amniotic membrane:	n/a
2	chr8:104152244-104152294	GM06990	blood:	n/a
3	chr8:104152244-104152294	SKMC	muscle:	n/a
4	chr8:104152279-104152329	SK-N-MC	brain:	n/a
5	chr8:104152279-104152329	HRPEpiC	eye:	n/a
6	chr8:104152279-104152329	HEEpiC	esophagus:	n/a
7	chr8:104152244-104152294	IMR90	lung:	fetal
8	chr8:104152244-104152294	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:104152279-104152329	A549	lung:	n/a
10	chr8:104152279-104152329	Jurkat	blood:	n/a
11	chr8:104152279-104152329	HIPEpiC	eye:	n/a
12	chr8:104152244-104152294	HRPEpiC	eye:	n/a
13	chr8:104152279-104152329	ECC-1	luminal epithelium:	n/a
14	chr8:104152244-104152294	K562	blood:	n/a
15	chr8:104152279-104152329	PrEC	prostate:	n/a
16	chr8:104152279-104152329	AG09309	skin:	n/a
17	chr8:104152244-104152294	HAEpiC	amniotic membrane:	n/a
18	chr8:104152244-104152294	SK-N-MC	brain:	n/a
19	chr8:104152279-104152329	BJ	skin:	n/a
20	chr8:104152244-104152294	GM12892	blood:	n/a
21	chr8:104152244-104152294	GM12878	blood:	n/a
22	chr8:104152279-104152329	NHDF-neo	bronchial:	n/a
23	chr8:104152244-104152294	A549	lung:	n/a
24	chr8:104152279-104152329	GM06990	blood:	n/a
25	chr8:104152279-104152329	NHBE	bronchial:	n/a
26	chr8:104152279-104152329	Hela-S3	cervix:	n/a
27	chr8:104152279-104152329	AG04450	lung:	fetal
28	chr8:104152279-104152329	HCPEpiC	choroid plexus:	n/a
29	chr8:104152244-104152294	AG10803	skin:	n/a
30	chr8:104152279-104152329	GM12891	blood:	n/a
31	chr8:104152279-104152329	K562	blood:	n/a
32	chr8:104152244-104152294	HNPCEpiC	eye:	n/a
33	chr8:104152244-104152294	MCF10A-Er-Src	breast:	n/a
34	chr8:104152244-104152294	NH-A	brain:	n/a
35	chr8:104152244-104152294	NHDF-neo	bronchial:	n/a
36	chr8:104152279-104152329	MCF10A-Er-Src	breast:	n/a
37	chr8:104152244-104152294	GM12891	blood:	n/a
38	chr8:104152244-104152294	NB4	blood:	n/a
39	chr8:104152279-104152329	HRCEpiC	kidney:	n/a
40	chr8:104152279-104152329	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:104152244-104152294	Jurkat	blood:	n/a
42	chr8:104152244-104152294	BJ	skin:	n/a
43	chr8:104152244-104152294	HCT-116	colon:	n/a
44	chr8:104152244-104152294	AoSMC	blood vessel:	n/a
45	chr8:104152244-104152294	SK-N-SH	brain:	n/a
46	chr8:104152244-104152294	HepG2	liver:	n/a
47	chr8:104152244-104152294	AG09319	gingival:	n/a
48	chr8:104152244-104152294	HCPEpiC	choroid plexus:	n/a
49	chr8:104152279-104152329	HEK293	kidney:	embryo
50	chr8:104152279-104152329	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:

No data

Variant related genes	Relation type
BAALC	TF binding region
BAALC	CpG island
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62527607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv3327360	chr8:104152001-104154549	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:104149000-104153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:104150000-104152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:104150200-104152400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:104150200-104152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:104150800-104153000	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:104151000-104152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:104151000-104152600	Weak transcription	Ovary	ovary
11	chr8:104151400-104153000	Enhancers	Primary B cells from cord blood	blood
12	chr8:104151600-104152400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:104151600-104152600	Weak transcription	Right Atrium	heart
14	chr8:104151800-104152600	Active TSS	Primary hematopoietic stem cells	blood
15	chr8:104152000-104152400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:104152000-104152600	Enhancers	Spleen	Spleen
17	chr8:104152000-104153000	Enhancers	Fetal Brain Male	brain
18	chr8:104152200-104152400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr8:104152200-104152400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:104152200-104152400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:104152200-104152400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr8:104152200-104152400	Flanking Active TSS	Right Ventricle	heart
23	chr8:104152200-104152600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:104152200-104152600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr8:104152200-104152600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr8:104152200-104152600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:104152200-104152600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:104152200-104152800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:104152200-104152800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:104152200-104152800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr8:104152200-104152800	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:104152200-104152800	Enhancers	Pancreas	Pancrea
33	chr8:104152200-104153000	Bivalent Enhancer	Esophagus	oesophagus
34	chr8:104152200-104153000	Enhancers	Gastric	stomach
35	chr8:104152200-104153800	Active TSS	Fetal Brain Female	brain
36	chr8:104152200-104154000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr8:104152200-104154000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:104152200-104154000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:104152200-104154200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:104152200-104155600	Active TSS	Brain Substantia Nigra	brain

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