Variant report

Variant	rs62489493
Chromosome Location	chr8:9763581-9763582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr8:9759698-9764536	H1-hESC	embryonic stem cell:	n/a	chr8:9764123-9764136 chr8:9761549-9761560 chr8:9761633-9761646 chr8:9762434-9762445 chr8:9760165-9760174
2	BACH1	chr8:9763576-9764132	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:9763575-9764651	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:9759634-9765032	H1-neurons	neurons:	n/a	n/a
5	GATA2	chr8:9763543-9763920	SH-SY5Y	brain:	n/a	n/a
6	MAX	chr8:9763478-9764634	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr8:9760486-9764444	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
8	POLR2A	chr8:9758404-9764972	H1-neurons	neurons:	n/a	n/a
9	E2F6	chr8:9763499-9764574	H1-hESC	embryonic stem cell:	n/a	chr8:9764184-9764194 chr8:9763738-9763745 chr8:9763843-9763852 chr8:9763738-9763745 chr8:9763822-9763832 chr8:9764512-9764519 chr8:9764318-9764327 chr8:9763738-9763745
10	TAF1	chr8:9760440-9764605	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr8:9759530-9764640	SK-N-SH	brain:	n/a	n/a
12	REST	chr8:9759431-9765302	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
13	E2F6	chr8:9763087-9764656	H1-hESC	embryonic stem cell:	n/a	chr8:9764184-9764194 chr8:9763183-9763193 chr8:9763738-9763745 chr8:9763843-9763852 chr8:9763738-9763745 chr8:9763822-9763832 chr8:9764512-9764519 chr8:9764318-9764327 chr8:9763738-9763745
14	CTBP2	chr8:9762972-9764578	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr8:9760457-9764946	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:9763552-9763602	HCM	heart:	n/a
2	chr8:9763558-9763608	AG09309	skin:	n/a
3	chr8:9763552-9763602	CMK	blood:	n/a
4	chr8:9763552-9763602	HCF	heart:	n/a
5	chr8:9763558-9763608	GM19239	blood:	n/a
6	chr8:9763552-9763602	BE2_C	brain:	n/a
7	chr8:9763552-9763602	Jurkat	blood:	n/a
8	chr8:9763558-9763608	HNPCEpiC	eye:	n/a
9	chr8:9763552-9763602	GM06990	blood:	n/a
10	chr8:9763558-9763608	MCF-7	breast:	n/a
11	chr8:9763552-9763602	SAEC	small airway:	n/a
12	chr8:9763558-9763608	IMR90	lung:	fetal
13	chr8:9763558-9763608	K562	blood:	n/a
14	chr8:9763552-9763602	H1-hESC	embryonic stem cell:	embryo
15	chr8:9763558-9763608	PrEC	prostate:	n/a
16	chr8:9763558-9763608	SKMC	muscle:	n/a
17	chr8:9763558-9763608	GM12878	blood:	n/a
18	chr8:9763552-9763602	HUVEC	blood vessel:	n/a
19	chr8:9763552-9763602	NB4	blood:	n/a
20	chr8:9763558-9763608	AG04450	lung:	fetal
21	chr8:9763552-9763602	HEK293	kidney:	embryo
22	chr8:9763558-9763608	HEEpiC	esophagus:	n/a
23	chr8:9763552-9763602	GM12891	blood:	n/a
24	chr8:9763552-9763602	AG04450	lung:	fetal
25	chr8:9763558-9763608	BJ	skin:	n/a
26	chr8:9763558-9763608	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:9763558-9763608	RPTEC	kidney:	n/a
28	chr8:9763552-9763602	ECC-1	luminal epithelium:	n/a
29	chr8:9763558-9763608	NHBE	bronchial:	n/a
30	chr8:9763552-9763602	HRPEpiC	eye:	n/a
31	chr8:9763558-9763608	NB4	blood:	n/a
32	chr8:9763558-9763608	HAEpiC	amniotic membrane:	n/a
33	chr8:9763558-9763608	T-47D	breast:	n/a
34	chr8:9763552-9763602	T-47D	breast:	n/a
35	chr8:9763558-9763608	AG09319	gingival:	n/a
36	chr8:9763558-9763608	Caco-2	colon:	n/a
37	chr8:9763558-9763608	NT2-D1	testis:	n/a
38	chr8:9763552-9763602	SKMC	muscle:	n/a
39	chr8:9763552-9763602	GM12892	blood:	n/a
40	chr8:9763558-9763608	HRPEpiC	eye:	n/a
41	chr8:9763558-9763608	AG10803	skin:	n/a
42	chr8:9763552-9763602	HRCEpiC	kidney:	n/a
43	chr8:9763558-9763608	CMK	blood:	n/a
44	chr8:9763558-9763608	HepG2	liver:	n/a
45	chr8:9763552-9763602	PANC-1	pancreas:	n/a
46	chr8:9763552-9763602	SK-N-MC	brain:	n/a
47	chr8:9763552-9763602	Hepatocyte	liver:	n/a
48	chr8:9763558-9763608	ECC-1	luminal epithelium:	n/a
49	chr8:9763558-9763608	PANC-1	pancreas:	n/a
50	chr8:9763552-9763602	LNCaP	prostate:	n/a

Variant related genes	Relation type
LINC00599	TF binding region
LINC00599	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12541159	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs491364	0.81[AFR][1000 genomes]
rs62489494	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9918917	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9759600-9764000	Active TSS	Fetal Brain Male	brain
2	chr8:9760200-9765000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:9760200-9765400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9760200-9765800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:9760400-9764600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:9760400-9764600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr8:9760400-9764800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:9760600-9763600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr8:9760600-9763600	Enhancers	Pancreas	Pancrea
10	chr8:9760600-9764000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr8:9760600-9764200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:9760600-9764600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:9760600-9764600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:9760600-9764800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:9760600-9764800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:9760600-9765000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr8:9760800-9763800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr8:9760800-9763800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:9760800-9763800	Bivalent Enhancer	Left Ventricle	heart
20	chr8:9760800-9764200	Bivalent Enhancer	Fetal Lung	lung
21	chr8:9761000-9765000	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr8:9761800-9766000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:9762000-9763600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr8:9762000-9764000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:9762200-9763800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
26	chr8:9762200-9763800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:9762200-9763800	Bivalent Enhancer	Lung	lung
28	chr8:9762200-9764000	Bivalent Enhancer	Spleen	Spleen
29	chr8:9762200-9764200	Bivalent Enhancer	Esophagus	oesophagus
30	chr8:9762200-9764400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr8:9762200-9764400	Bivalent Enhancer	Liver	Liver
32	chr8:9762200-9764800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:9762400-9765000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:9762600-9763600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:9762600-9763600	Bivalent/Poised TSS	Right Ventricle	heart
36	chr8:9762600-9763800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:9762600-9763800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr8:9762600-9763800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr8:9762600-9763800	Bivalent Enhancer	HMEC	breast
40	chr8:9762600-9764000	Enhancers	Gastric	stomach
41	chr8:9762600-9764200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr8:9762600-9764800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:9762600-9764800	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr8:9762800-9763600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:9762800-9763600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr8:9762800-9763600	Enhancers	Psoas Muscle	Psoas
47	chr8:9762800-9763600	Bivalent Enhancer	Small Intestine	intestine
48	chr8:9762800-9763800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr8:9762800-9763800	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr8:9762800-9764600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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