Variant report

Variant	rs7837298
Chromosome Location	chr8:60032541-60032542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:60032053-60032963	A549	lung:	n/a	chr8:60032692-60032705
2	CTCF	chr8:60032520-60032670	WERI-Rb-1	eye:	n/a	n/a
3	RAD21	chr8:60032114-60033273	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr8:60031565-60032927	IMR90	lung:	n/a	chr8:60031868-60031878
5	POLR2A	chr8:60032067-60032697	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr8:60032412-60032675	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr8:60032163-60032691	GM12878	blood:	n/a	n/a
8	MAZ	chr8:60032079-60032662	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:60031557-60032747	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:60032022-60032556	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr8:60031943-60032569	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr8:60032131-60032551	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr8:60032480-60032630	AoAF	blood vessel:	n/a	n/a
14	ZBTB7A	chr8:60032038-60032815	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr8:60032440-60032590	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr8:60032502-60032612	ProgFib	skin:	n/a	n/a
17	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
18	CTCF	chr8:60032500-60032650	HRE	kidney:	n/a	n/a
19	POLR2A	chr8:60032037-60032728	H1-neurons	neurons:	n/a	n/a
20	ZNF263	chr8:60032106-60032698	HEK293-T-REx	kidney:	n/a	n/a
21	CTCF	chr8:60032440-60032590	HAc	cerebellar:	n/a	n/a
22	MAZ	chr8:60032087-60032635	K562	blood:	n/a	n/a
23	CTCF	chr8:60032192-60032594	GM19239	blood:	n/a	n/a
24	CTCF	chr8:60032520-60032670	NHEK	skin:	n/a	n/a
25	POLR2A	chr8:60032027-60032774	GM12892	blood:	n/a	n/a
26	POLR2A	chr8:60031912-60032570	HUVEC	blood vessel:	n/a	n/a
27	SIN3A	chr8:60032047-60033207	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr8:60029630-60032925	H1-neurons	neurons:	n/a	chr8:60030756-60030769 chr8:60031242-60031262 chr8:60030645-60030658
29	CTCF	chr8:60032029-60032835	SK-N-SH	brain:	n/a	chr8:60032692-60032705
30	SMC3	chr8:60029628-60033412	SK-N-SH	brain:	n/a	chr8:60030234-60030241
31	POLR2A	chr8:60029859-60032686	Raji	blood:	n/a	n/a
32	CTCF	chr8:60032520-60032670	GM12875	blood:	n/a	n/a
33	CTCF	chr8:60032172-60032614	GM12892	blood:	n/a	n/a
34	RAD21	chr8:60032082-60032697	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr8:60032394-60032807	GM12878	blood:	n/a	n/a
36	CTCF	chr8:60032540-60032690	HMEC	breast:	n/a	n/a
37	CTCF	chr8:60032500-60032650	GM12865	blood:	n/a	n/a
38	CTCF	chr8:60032047-60032585	K562	blood:	n/a	n/a
39	STAT1	chr8:60032478-60032590	GM12878	blood:	n/a	n/a
40	HDAC2	chr8:60032395-60032971	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:60029804-60033039	GM18505	blood:	n/a	n/a
42	POLR2A	chr8:60031154-60032680	Hela-S3	cervix:	n/a	n/a
43	FOXP2	chr8:60032023-60032706	PFSK-1	brain:	n/a	n/a
44	BACH1	chr8:60032159-60033118	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:60032480-60032630	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr8:60032460-60032610	GM12869	blood:	n/a	n/a
47	CTCF	chr8:60032163-60032681	GM12891	blood:	n/a	n/a
48	TBP	chr8:60032094-60032620	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr8:60032128-60032588	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr8:60032409-60032673	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDCBP-2	chr8:60032505-60032630	ENSG00000167912
2	lnc-SDCBP-2	chr8:60032505-60032630	NONHSAT126802

No data

Variant related genes	Relation type
TOX	TF binding region

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

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

rs_ID	r²[population]
rs10094653	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808698	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs10957078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787249	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334865	0.85[ASN][1000 genomes]
rs7016025	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3524312	chr8:60030498-60033446	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3524313	chr8:60030498-60033446	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3358496	chr8:60030823-60033771	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60027600-60032600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
3	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:60027800-60032600	Active TSS	Fetal Thymus	thymus
5	chr8:60027800-60032800	Active TSS	Fetal Brain Male	brain
6	chr8:60028000-60033000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:60028200-60032600	Active TSS	Colon Smooth Muscle	Colon
8	chr8:60028400-60032600	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:60028400-60033000	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr8:60028400-60033000	Active TSS	NH-A	brain
11	chr8:60028600-60032800	Active TSS	Thymus	Thymus
12	chr8:60029000-60032600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr8:60029000-60032800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:60029000-60033200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:60029200-60033000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:60029200-60033000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:60029200-60033200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:60029400-60032600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:60029400-60033000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:60029600-60033000	Active TSS	Fetal Kidney	kidney
21	chr8:60029600-60033000	Active TSS	NHDF-Ad	bronchial
22	chr8:60029800-60032600	Active TSS	Small Intestine	intestine
23	chr8:60029800-60032800	Active TSS	Esophagus	oesophagus
24	chr8:60029800-60033000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:60029800-60033000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:60029800-60033000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:60029800-60033000	Active TSS	Primary T cells from cord blood	blood
28	chr8:60029800-60033000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:60029800-60033000	Active TSS	Right Atrium	heart
30	chr8:60029800-60033000	Active TSS	HSMM	muscle
31	chr8:60030000-60032600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:60030000-60032800	Active TSS	Ovary	ovary
33	chr8:60030000-60033000	Active TSS	Osteobl	bone
34	chr8:60030200-60032600	Active TSS	HUVEC	blood vessel
35	chr8:60030200-60033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:60030400-60032600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:60030400-60032600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:60030400-60032600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:60030400-60032600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:60030400-60032800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:60030400-60032800	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:60030400-60032800	Active TSS	Aorta	Aorta
43	chr8:60030400-60033000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr8:60030400-60033000	Active TSS	Fetal Lung	lung
45	chr8:60030400-60033000	Active TSS	HSMMtube	muscle
46	chr8:60030400-60033200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:60030400-60033200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:60030400-60033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:60030600-60032600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:60030600-60032600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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