Variant report

Variant	rs71521601
Chromosome Location	chr8:42698041-42698042
allele	A/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	E2F4	chr8:42697816-42698735	K562	blood:	n/a	chr8:42698651-42698660
2	POLR2A	chr8:42697596-42699027	U87	brain:	n/a	n/a
3	HCFC1	chr8:42697385-42699063	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:42697768-42698044	GM12892	blood:	n/a	n/a
5	MYC	chr8:42697596-42698878	NB4	blood:	n/a	n/a
6	MAX	chr8:42697687-42698897	A549	lung:	n/a	n/a
7	ZBTB33	chr8:42697694-42698834	HCT-116	colon:	n/a	chr8:42698139-42698149
8	MAX	chr8:42697704-42698903	MCF-7	breast:	n/a	n/a
9	UBTF	chr8:42697793-42698865	K562	blood:	n/a	n/a
10	MAX	chr8:42697688-42698937	ECC-1	luminal epithelium:	n/a	n/a
11	BHLHE40	chr8:42697783-42698741	K562	blood:	n/a	n/a
12	POLR2A	chr8:42697577-42699025	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:42697744-42698911	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:42697257-42699050	MCF10A-Er-Src	breast:	n/a	n/a
15	POU2F2	chr8:42698030-42698857	GM12891	blood:	n/a	n/a
16	ZNF143	chr8:42697905-42698835	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr8:42697597-42698788	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr8:42697721-42698060	HepG2	liver:	n/a	n/a
19	ETS1	chr8:42697743-42698897	A549	lung:	n/a	chr8:42698611-42698622 chr8:42698523-42698540 chr8:42698625-42698639 chr8:42698612-42698625 chr8:42698478-42698487
20	MYC	chr8:42697832-42698793	K562	blood:	n/a	n/a
21	POLR2A	chr8:42697807-42698830	A549	lung:	n/a	n/a
22	POLR2A	chr8:42697801-42698853	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr8:42697712-42698797	GM12878	blood:	n/a	n/a
24	TAL1	chr8:42697313-42698879	K562	blood:	n/a	n/a
25	MXI1	chr8:42697464-42698814	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:42697761-42698830	GM12878	blood:	n/a	n/a
27	EP300	chr8:42697172-42698989	K562	blood:	n/a	chr8:42697543-42697552 chr8:42697967-42697983
28	HEY1	chr8:42697631-42698949	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:42697678-42698968	HL-60	blood:	n/a	n/a
30	RFX5	chr8:42697707-42698710	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:42697750-42698847	GM12878	blood:	n/a	n/a
32	UBTF	chr8:42697797-42698896	K562	blood:	n/a	n/a
33	POLR2A	chr8:42697574-42698978	HUVEC	blood vessel:	n/a	n/a
34	PBX3	chr8:42697736-42698920	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr8:42697706-42698947	GM12878	blood:	n/a	n/a
36	IRF1	chr8:42697615-42698832	K562	blood:	n/a	chr8:42698597-42698611 chr8:42698549-42698558
37	ZMIZ1	chr8:42697816-42698713	K562	blood:	n/a	n/a
38	TBL1XR1	chr8:42697790-42698858	K562	blood:	n/a	n/a
39	SIN3AK20	chr8:42697820-42698048	HepG2	liver:	n/a	n/a
40	MTA3	chr8:42697505-42699400	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:42697707-42698851	ECC-1	luminal epithelium:	n/a	n/a
42	ELF1	chr8:42697871-42698994	HCT-116	colon:	n/a	n/a
43	POLR2A	chr8:42697996-42698824	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr8:42697716-42698888	K562	blood:	n/a	n/a
45	RFX5	chr8:42697379-42698833	Hela-S3	cervix:	n/a	n/a
46	YY1	chr8:42697730-42698821	A549	lung:	n/a	chr8:42698437-42698459 chr8:42698448-42698456 chr8:42697817-42697833 chr8:42698450-42698458 chr8:42698449-42698459 chr8:42698441-42698461 chr8:42698442-42698461
47	POLR2A	chr8:42697740-42698848	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr8:42697825-42698280	K562	blood:	n/a	n/a
49	MAX	chr8:42697486-42698860	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr8:42697747-42698790	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:42696684..42700108-chr8:42749367..42753632,16	K562	blood:
2	chr8:42697938..42699584-chr8:42910062..42912645,3	K562	blood:
3	chr1:245026962..245027962-chr8:42697977..42698615,2	Hela-S3	cervix:
4	chr8:42695291..42700486-chr8:42749376..42753818,20	K562	blood:
5	chr8:42696480..42700026-chr8:42910062..42913362,8	K562	blood:
6	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
7	chr8:42696846..42699978-chr8:42747946..42753140,10	MCF-7	breast:
8	chr6:13814382..13814930-chr8:42697668..42698445,2	HCT-116	colon:
9	chr8:42698035..42698734-chr8:67837372..67837986,2	Hela-S3	cervix:
10	chr8:42696228..42698600-chr8:42913525..42916456,2	K562	blood:
11	chr8:42395141..42398795-chr8:42696735..42698902,3	K562	blood:
12	chr11:64545646..64546446-chr8:42697559..42698482,2	Hela-S3	cervix:
13	chr8:42697394..42698106-chr8:42751815..42752429,2	Hela-S3	cervix:
14	chr1:46806150..46806730-chr8:42697559..42698477,2	Hela-S3	cervix:

Variant related genes	Relation type
THAP1	TF binding region
ENSG00000168575	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000168522	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000176209	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000117481	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1052654	0.82[AMR][1000 genomes]
rs11984732	0.84[AFR][1000 genomes]
rs11986681	0.82[AMR][1000 genomes]
rs11990515	0.82[AMR][1000 genomes]
rs11997799	0.82[AMR][1000 genomes]
rs13251524	0.82[AMR][1000 genomes]
rs13257298	0.82[AMR][1000 genomes]
rs16891663	0.82[AMR][1000 genomes]
rs34099110	0.89[AFR][1000 genomes]
rs34100417	0.82[AMR][1000 genomes]
rs34864660	0.82[AMR][1000 genomes]
rs35021392	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57652067	0.82[AMR][1000 genomes]
rs58729413	0.82[AMR][1000 genomes]
rs59531993	0.90[AFR][1000 genomes]
rs60292433	0.82[AMR][1000 genomes]
rs62515942	0.82[AMR][1000 genomes]
rs62517585	0.82[AMR][1000 genomes]
rs67575305	0.82[AMR][1000 genomes]
rs6996034	0.82[AMR][1000 genomes]
rs7014595	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634659	0.90[AFR][1000 genomes]
rs7820326	0.85[AFR][1000 genomes]
rs7821062	0.82[AMR][1000 genomes]
rs7829867	0.82[AMR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats 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	86 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	chr8:42696600-42698800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:42696600-42699200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:42696600-42699200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:42696800-42699000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:42696800-42699200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:42696800-42699200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:42696800-42699200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:42696800-42699200	Active TSS	Psoas Muscle	Psoas
9	chr8:42696800-42699200	Active TSS	HSMMtube	muscle
10	chr8:42696800-42699400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:42696800-42699400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:42697000-42698800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:42697000-42699000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:42697000-42699000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:42697000-42699000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:42697000-42699000	Active TSS	NHDF-Ad	bronchial
17	chr8:42697000-42699200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:42697000-42699200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:42697000-42699200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:42697000-42699200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:42697000-42699200	Active TSS	HepG2	liver
22	chr8:42697000-42699200	Active TSS	HMEC	breast
23	chr8:42697000-42699200	Active TSS	K562	blood
24	chr8:42697200-42698800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:42697200-42698800	Active TSS	Fetal Muscle Leg	muscle
26	chr8:42697200-42699000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:42697200-42699000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:42697200-42699000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:42697200-42699000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:42697200-42699000	Active TSS	Fetal Intestine Large	intestine
31	chr8:42697200-42699000	Active TSS	Fetal Intestine Small	intestine
32	chr8:42697200-42699000	Active TSS	Fetal Thymus	thymus
33	chr8:42697200-42699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:42697200-42699200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:42697200-42699200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:42697200-42699200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:42697200-42699200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:42697200-42699200	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:42697200-42699200	Active TSS	Right Atrium	heart
40	chr8:42697200-42699200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:42697200-42699200	Active TSS	Thymus	Thymus
42	chr8:42697200-42699200	Active TSS	GM12878-XiMat	blood
43	chr8:42697200-42699200	Active TSS	Hela-S3	cervix
44	chr8:42697200-42699200	Active TSS	HSMM	muscle
45	chr8:42697200-42699200	Active TSS	NHEK	skin
46	chr8:42697200-42699200	Active TSS	NHLF	lung
47	chr8:42697200-42699400	Active TSS	Colonic Mucosa	Colon
48	chr8:42697200-42699400	Active TSS	A549	lung
49	chr8:42697400-42698800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:42697400-42698800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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