Variant report

Variant	rs62477463
Chromosome Location	chr8:1764342-1764343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
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	REST	chr8:1764313-1764464	PANC-1	pancreas:	n/a	n/a

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No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1764329-1764379	NT2-D1	testis:	n/a
2	chr8:1764329-1764379	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:1764329-1764379	GM12891	blood:	n/a
4	chr8:1764329-1764379	Jurkat	blood:	n/a
5	chr8:1764329-1764379	Hepatocyte	liver:	n/a
6	chr8:1764329-1764379	HAEpiC	amniotic membrane:	n/a
7	chr8:1764329-1764379	A549	lung:	n/a
8	chr8:1764329-1764379	RPTEC	kidney:	n/a
9	chr8:1764329-1764379	GM12892	blood:	n/a
10	chr8:1764329-1764379	MCF10A-Er-Src	breast:	n/a
11	chr8:1764329-1764379	HEEpiC	esophagus:	n/a
12	chr8:1764329-1764379	GM19239	blood:	n/a
13	chr8:1764329-1764379	SKMC	muscle:	n/a
14	chr8:1764329-1764379	PANC-1	pancreas:	n/a
15	chr8:1764329-1764379	HEK293	kidney:	embryo
16	chr8:1764329-1764379	PFSK-1	brain:	n/a
17	chr8:1764329-1764379	ovcar-3	ovarian:	n/a
18	chr8:1764329-1764379	K562	blood:	n/a
19	chr8:1764329-1764379	HCT-116	colon:	n/a
20	chr8:1764329-1764379	GM06990	blood:	n/a
21	chr8:1764329-1764379	HMEC	breast:	n/a
22	chr8:1764329-1764379	ProgFib	skin:	n/a
23	chr8:1764329-1764379	H1-hESC	embryonic stem cell:	embryo
24	chr8:1764329-1764379	HCF	heart:	n/a
25	chr8:1764329-1764379	HIPEpiC	eye:	n/a
26	chr8:1764329-1764379	HCPEpiC	choroid plexus:	n/a
27	chr8:1764329-1764379	HepG2	liver:	n/a
28	chr8:1764329-1764379	NHDF-neo	bronchial:	n/a
29	chr8:1764329-1764379	AG04450	lung:	fetal
30	chr8:1764329-1764379	SAEC	small airway:	n/a
31	chr8:1764329-1764379	SK-N-SH_RA	brain:	n/a
32	chr8:1764329-1764379	AG04449	skin:	fetal
33	chr8:1764329-1764379	T-47D	breast:	n/a
34	chr8:1764329-1764379	HRCEpiC	kidney:	n/a
35	chr8:1764329-1764379	SK-N-SH	brain:	n/a
36	chr8:1764329-1764379	PrEC	prostate:	n/a
37	chr8:1764329-1764379	CMK	blood:	n/a
38	chr8:1764329-1764379	NB4	blood:	n/a
39	chr8:1764329-1764379	Hela-S3	cervix:	n/a
40	chr8:1764329-1764379	HL-60	blood:	n/a
41	chr8:1764329-1764379	HUVEC	blood vessel:	n/a
42	chr8:1764329-1764379	BJ	skin:	n/a
43	chr8:1764329-1764379	NHBE	bronchial:	n/a
44	chr8:1764329-1764379	AG09319	gingival:	n/a
45	chr8:1764329-1764379	MCF-7	breast:	n/a
46	chr8:1764329-1764379	IMR90	lung:	fetal
47	chr8:1764329-1764379	LNCaP	prostate:	n/a
48	chr8:1764329-1764379	BE2_C	brain:	n/a
49	chr8:1764329-1764379	HRPEpiC	eye:	n/a
50	chr8:1764329-1764379	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1710901..1715165-chr8:1763143..1767602,4	K562	blood:

No data

Variant related genes	Relation type
MIR596	TF binding region
MIR596	CpG island
ENSG00000182372	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11136426	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781885	0.83[EUR][1000 genomes]
rs12676539	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
11	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv824454	chr8:1740369-1802873	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1025444	chr8:1743663-1864809	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv539299	chr8:1743663-1864809	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
20	nsv470167	chr8:1746949-1886640	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	nsv465277	chr8:1746950-1888447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
22	nsv609533	chr8:1746950-1888447	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
24	nsv889718	chr8:1748166-1807756	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
25	nsv1017597	chr8:1748941-1865887	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
26	nsv889720	chr8:1756800-1811397	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
27	nsv889721	chr8:1756800-1815639	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
28	nsv889722	chr8:1756800-1857293	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
29	nsv889723	chr8:1756800-1904157	Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
30	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
31	esv3421772	chr8:1762445-1766643	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
32	nsv1031464	chr8:1763119-1848596	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1750800-1765000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:1758000-1765000	Weak transcription	Left Ventricle	heart
3	chr8:1761000-1764600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:1761400-1764400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1762000-1771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:1762200-1764800	Weak transcription	Right Atrium	heart
7	chr8:1762400-1764800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:1762400-1764800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:1762600-1764600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:1762600-1764800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:1762800-1764600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:1762800-1764800	Weak transcription	Spleen	Spleen
13	chr8:1762800-1765000	Weak transcription	Pancreas	Pancrea
14	chr8:1762800-1770200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:1763000-1764800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:1763000-1764800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:1763200-1764800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:1763200-1765000	Enhancers	Brain Anterior Caudate	brain
19	chr8:1763200-1771000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:1763400-1764400	Enhancers	Brain Angular Gyrus	brain
21	chr8:1763400-1764600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:1763400-1764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:1763400-1764800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:1763400-1764800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:1763400-1765600	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:1763400-1770400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:1763600-1765000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:1763600-1765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:1763600-1765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:1764000-1765000	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:1764000-1771000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:1764200-1764600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:1764200-1764800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:1764200-1764800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:1764200-1764800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:1764200-1764800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:1764200-1764800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr8:1764200-1765000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:1764200-1765000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:1764200-1765000	Enhancers	HUVEC	blood vessel
41	chr8:1764200-1765200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:1764200-1765200	Bivalent Enhancer	Placenta	Placenta
43	chr8:1764200-1765800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:1764200-1768600	Enhancers	Lung	lung

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