Variant report

Variant	rs13270855
Chromosome Location	chr8:59572501-59572502
allele	C/T
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	RAD21	chr8:59572105-59572554	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:59571318-59572714	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:59571032-59572793	GM12892	blood:	n/a	n/a
4	CBX3	chr8:59572010-59572692	K562	blood:	n/a	n/a
5	HA-E2F1	chr8:59571495-59572618	Hela-S3	cervix:	n/a	chr8:59571603-59571617 chr8:59572231-59572241 chr8:59571676-59571686 chr8:59572225-59572235 chr8:59571613-59571620 chr8:59571679-59571688 chr8:59572230-59572239
6	TAF1	chr8:59571356-59572619	SK-N-SH	brain:	n/a	n/a
7	CHD2	chr8:59571466-59572553	GM12878	blood:	n/a	chr8:59571613-59571620
8	PML	chr8:59570357-59573077	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:59570979-59572706	K562	blood:	n/a	n/a
10	CEBPD	chr8:59572117-59572573	K562	blood:	n/a	n/a
11	POLR2A	chr8:59570911-59573097	GM12892	blood:	n/a	n/a
12	POLR2A	chr8:59571387-59572555	A549	lung:	n/a	n/a
13	MAX	chr8:59570917-59572852	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr8:59570919-59572943	GM12891	blood:	n/a	n/a
15	BRCA1	chr8:59572298-59572704	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr8:59571611-59572561	SK-N-SH	brain:	n/a	n/a
17	MXI1	chr8:59570487-59572942	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:59571123-59572685	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:59571430-59572585	HUVEC	blood vessel:	n/a	n/a
20	YY1	chr8:59571601-59572674	GM12878	blood:	n/a	chr8:59572365-59572379 chr8:59572228-59572242 chr8:59572230-59572241 chr8:59572233-59572242 chr8:59572231-59572245 chr8:59571681-59571695 chr8:59572230-59572239 chr8:59572225-59572239
21	TBP	chr8:59570948-59573101	K562	blood:	n/a	n/a
22	ELF1	chr8:59571494-59572795	MCF-7	breast:	n/a	chr8:59572233-59572242 chr8:59572229-59572241
23	TBP	chr8:59572141-59573209	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:59571552-59572545	A549	lung:	n/a	n/a
25	MAX	chr8:59570950-59572683	ECC-1	luminal epithelium:	n/a	n/a
26	GTF2F1	chr8:59572027-59572977	K562	blood:	n/a	n/a
27	POLR2A	chr8:59570882-59572878	IMR90	lung:	n/a	n/a
28	STAT5A	chr8:59572295-59572874	GM12878	blood:	n/a	n/a
29	MYC	chr8:59571297-59572908	A549	lung:	n/a	n/a
30	MAZ	chr8:59571757-59572566	HepG2	liver:	n/a	n/a
31	JUND	chr8:59572275-59572531	HepG2	liver:	n/a	chr8:59572411-59572419
32	ZNF143	chr8:59572188-59573022	K562	blood:	n/a	chr8:59572268-59572286
33	POLR2A	chr8:59571215-59572660	HUVEC	blood vessel:	n/a	n/a
34	ZBTB7A	chr8:59571416-59572530	K562	blood:	n/a	chr8:59571632-59571643 chr8:59571631-59571642
35	TAF1	chr8:59572014-59572643	GM12892	blood:	n/a	n/a
36	POLR2A	chr8:59571249-59572610	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr8:59572133-59572548	K562	blood:	n/a	n/a
38	FOXP2	chr8:59571412-59572531	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr8:59571051-59572701	GM12878	blood:	n/a	n/a
40	TCF3	chr8:59571614-59572552	GM12878	blood:	n/a	n/a
41	CTCF	chr8:59572185-59572573	K562	blood:	n/a	n/a
42	POLR2A	chr8:59571461-59572717	ProgFib	skin:	n/a	n/a
43	MAX	chr8:59570907-59572802	K562	blood:	n/a	n/a
44	RFX5	chr8:59572064-59572573	HepG2	liver:	n/a	n/a
45	PML	chr8:59572325-59572602	GM12878	blood:	n/a	n/a
46	E2F6	chr8:59570946-59572635	K562	blood:	n/a	chr8:59571603-59571617 chr8:59572231-59572241 chr8:59571676-59571686 chr8:59572225-59572235 chr8:59571613-59571620 chr8:59571679-59571688 chr8:59572230-59572239
47	CTCF	chr8:59572500-59572650	NHDF-neo	bronchial:	n/a	n/a
48	TBP	chr8:59571307-59572691	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:59571411-59572661	K562	blood:	n/a	n/a
50	POLR2A	chr8:59570943-59573090	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:59572451-59572501	Jurkat	blood:	n/a
2	chr8:59572480-59572530	CMK	blood:	n/a
3	chr8:59572480-59572530	AG04450	lung:	fetal
4	chr8:59572480-59572530	HRE	kidney:	n/a
5	chr8:59572451-59572501	Caco-2	colon:	n/a
6	chr8:59572480-59572530	AG10803	skin:	n/a
7	chr8:59572451-59572501	Hela-S3	cervix:	n/a
8	chr8:59572451-59572501	HIPEpiC	eye:	n/a
9	chr8:59572451-59572501	AG04449	skin:	fetal
10	chr8:59572467-59572517	CMK	blood:	n/a
11	chr8:59572480-59572530	PFSK-1	brain:	n/a
12	chr8:59572480-59572530	ECC-1	luminal epithelium:	n/a
13	chr8:59572451-59572501	PANC-1	pancreas:	n/a
14	chr8:59572467-59572517	HCM	heart:	n/a
15	chr8:59572467-59572517	BE2_C	brain:	n/a
16	chr8:59572467-59572517	SK-N-SH_RA	brain:	n/a
17	chr8:59572451-59572501	HUVEC	blood vessel:	n/a
18	chr8:59572467-59572517	GM12891	blood:	n/a
19	chr8:59572451-59572501	SK-N-MC	brain:	n/a
20	chr8:59572480-59572530	GM06990	blood:	n/a
21	chr8:59572480-59572530	HRPEpiC	eye:	n/a
22	chr8:59572480-59572530	HEEpiC	esophagus:	n/a
23	chr8:59572467-59572517	SKMC	muscle:	n/a
24	chr8:59572467-59572517	HRPEpiC	eye:	n/a
25	chr8:59572467-59572517	BJ	skin:	n/a
26	chr8:59572451-59572501	Hepatocyte	liver:	n/a
27	chr8:59572467-59572517	HMEC	breast:	n/a
28	chr8:59572480-59572530	GM19239	blood:	n/a
29	chr8:59572451-59572501	HCPEpiC	choroid plexus:	n/a
30	chr8:59572451-59572501	HepG2	liver:	n/a
31	chr8:59572467-59572517	GM12878	blood:	n/a
32	chr8:59572451-59572501	LNCaP	prostate:	n/a
33	chr8:59572467-59572517	SK-N-MC	brain:	n/a
34	chr8:59572480-59572530	SAEC	small airway:	n/a
35	chr8:59572467-59572517	HIPEpiC	eye:	n/a
36	chr8:59572480-59572530	HepG2	liver:	n/a
37	chr8:59572467-59572517	AG04450	lung:	fetal
38	chr8:59572480-59572530	SK-N-SH	brain:	n/a
39	chr8:59572467-59572517	Jurkat	blood:	n/a
40	chr8:59572451-59572501	NT2-D1	testis:	n/a
41	chr8:59572467-59572517	T-47D	breast:	n/a
42	chr8:59572467-59572517	HepG2	liver:	n/a
43	chr8:59572480-59572530	NT2-D1	testis:	n/a
44	chr8:59572467-59572517	HCT-116	colon:	n/a
45	chr8:59572451-59572501	IMR90	lung:	fetal
46	chr8:59572480-59572530	NHDF-neo	bronchial:	n/a
47	chr8:59572480-59572530	LNCaP	prostate:	n/a
48	chr8:59572451-59572501	SK-N-SH	brain:	n/a
49	chr8:59572480-59572530	U87	brain:	n/a
50	chr8:59572467-59572517	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:59569651..59573142-chr8:59573265..59576633,4	MCF-7	breast:
2	chr8:59464966..59467045-chr8:59571709..59574474,2	MCF-7	breast:
3	chr17:8191246..8192052-chr8:59571912..59572597,2	Hela-S3	cervix:
4	chr8:59571817..59572791-chr9:131709885..131710521,2	HCT-116	colon:
5	chr8:59464841..59467426-chr8:59569762..59573398,4	MCF-7	breast:

Variant related genes	Relation type
NSMAF	TF binding region
NSMAF	CpG island
ENSG00000108961	Chromatin interaction
ENSG00000137575	Chromatin interaction
ENSG00000095319	Chromatin interaction
ENSG00000175283	Chromatin interaction
ENSG00000238433	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11995052	1.00[ASN][1000 genomes]
rs4737508	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62512925	1.00[ASN][1000 genomes]
rs7011981	1.00[ASN][1000 genomes]
rs7013052	1.00[ASN][1000 genomes]
rs901955	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA 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	chr8:59569600-59573000	Active TSS	GM12878-XiMat	blood
2	chr8:59570200-59572800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:59570400-59572600	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr8:59570400-59572600	Active TSS	Brain Germinal Matrix	brain
5	chr8:59570400-59572600	Active TSS	NHLF	lung
6	chr8:59570400-59572800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:59570400-59572800	Active TSS	Colonic Mucosa	Colon
8	chr8:59570400-59572800	Active TSS	Lung	lung
9	chr8:59570400-59573000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr8:59570400-59573000	Active TSS	Fetal Muscle Trunk	muscle
11	chr8:59570600-59572600	Active TSS	Fetal Intestine Small	intestine
12	chr8:59570600-59572800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:59570600-59573000	Active TSS	Psoas Muscle	Psoas
14	chr8:59570600-59573200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:59570800-59572600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:59570800-59572600	Active TSS	Brain Hippocampus Middle	brain
17	chr8:59570800-59572600	Active TSS	Fetal Stomach	stomach
18	chr8:59570800-59572600	Active TSS	HSMMtube	muscle
19	chr8:59570800-59572800	Active TSS	Aorta	Aorta
20	chr8:59570800-59572800	Active TSS	Right Ventricle	heart
21	chr8:59570800-59572800	Active TSS	Small Intestine	intestine
22	chr8:59570800-59573000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:59570800-59573000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:59570800-59573000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:59570800-59573200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:59571000-59572600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:59571000-59572600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:59571000-59572600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:59571000-59572600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:59571000-59572600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:59571000-59572600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:59571000-59572600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr8:59571000-59572600	Active TSS	Fetal Intestine Large	intestine
34	chr8:59571000-59572600	Active TSS	NHDF-Ad	bronchial
35	chr8:59571000-59572800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:59571000-59572800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr8:59571000-59572800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:59571000-59572800	Active TSS	Left Ventricle	heart
39	chr8:59571000-59572800	Active TSS	Ovary	ovary
40	chr8:59571000-59572800	Active TSS	Pancreas	Pancrea
41	chr8:59571000-59573000	Active TSS	Esophagus	oesophagus
42	chr8:59571000-59573000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr8:59571200-59572600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:59571200-59572600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:59571200-59572600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:59571200-59572600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:59571200-59572600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:59571200-59572600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:59571200-59572600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:59571200-59572600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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