Variant report

Variant	rs7463394
Chromosome Location	chr8:61194244-61194245
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	IRF1	chr8:61193762-61194357	K562	blood:	n/a	chr8:61194013-61194027
2	MYC	chr8:61193217-61194258	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
3	CREB1	chr8:61193635-61194262	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr8:61193201-61194401	K562	blood:	n/a	chr8:61193773-61193788 chr8:61193765-61193780
5	MYC	chr8:61193232-61194271	NB4	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
6	YY1	chr8:61193523-61194345	K562	blood:	n/a	chr8:61194143-61194152 chr8:61193564-61193573 chr8:61194140-61194151 chr8:61194141-61194155 chr8:61193712-61193721 chr8:61194140-61194149
7	FOXA2	chr8:61194162-61195232	HepG2	liver:	n/a	chr8:61194430-61194442
8	POLR2A	chr8:61193605-61194245	PANC-1	pancreas:	n/a	n/a
9	BHLHE40	chr8:61193167-61194404	K562	blood:	n/a	chr8:61193736-61193752 chr8:61193728-61193744
10	HMGN3	chr8:61193245-61194322	K562	blood:	n/a	n/a
11	ZBTB7A	chr8:61193264-61194341	K562	blood:	n/a	n/a
12	MAX	chr8:61193048-61194271	A549	lung:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
13	EGR1	chr8:61193748-61194350	K562	blood:	n/a	chr8:61194116-61194126 chr8:61194138-61194148 chr8:61194138-61194151 chr8:61194139-61194148 chr8:61194142-61194152 chr8:61194145-61194155 chr8:61194018-61194031
14	TBP	chr8:61193752-61194307	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr8:61193120-61194633	H1-neurons	neurons:	n/a	chr8:61193738-61193751 chr8:61193755-61193775 chr8:61193576-61193585 chr8:61193758-61193771
16	POLR2A	chr8:61193559-61194245	MCF-7	breast:	n/a	n/a
17	CEBPD	chr8:61193508-61194299	K562	blood:	n/a	n/a
18	TBP	chr8:61193041-61194404	K562	blood:	n/a	n/a
19	TAF1	chr8:61193696-61194256	K562	blood:	n/a	n/a
20	CCNT2	chr8:61193215-61194335	K562	blood:	n/a	n/a
21	POLR2A	chr8:61193291-61194311	K562	blood:	n/a	n/a
22	EGR1	chr8:61193755-61194270	K562	blood:	n/a	chr8:61194116-61194126 chr8:61194138-61194148 chr8:61194138-61194151 chr8:61194139-61194148 chr8:61194142-61194152 chr8:61194145-61194155 chr8:61194018-61194031
23	TEAD4	chr8:61193623-61194437	K562	blood:	n/a	n/a
24	POLR2A	chr8:61193167-61194371	K562	blood:	n/a	n/a
25	POLR2A	chr8:61193555-61194402	K562	blood:	n/a	n/a
26	POLR2A	chr8:61193304-61194308	MCF-7	breast:	n/a	n/a
27	HEY1	chr8:61193541-61194294	K562	blood:	n/a	chr8:61193773-61193788 chr8:61193765-61193780
28	POLR2A	chr8:61193185-61194350	K562	blood:	n/a	n/a
29	POLR2A	chr8:61193192-61194331	K562	blood:	n/a	n/a
30	POLR2A	chr8:61193254-61194381	NB4	blood:	n/a	n/a
31	YY1	chr8:61194129-61194291	K562	blood:	n/a	chr8:61194143-61194152 chr8:61194140-61194151 chr8:61194141-61194155 chr8:61194140-61194149
32	PML	chr8:61193382-61194246	K562	blood:	n/a	n/a
33	UBTF	chr8:61193051-61194379	K562	blood:	n/a	n/a
34	POLR2A	chr8:61193277-61194301	MCF-7	breast:	n/a	n/a
35	MAX	chr8:61193115-61194303	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
36	MAZ	chr8:61193093-61194548	K562	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
37	SIN3AK20	chr8:61193082-61195101	MCF-7	breast:	n/a	n/a
38	BACH1	chr8:61193276-61194409	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:61193129-61194314	HL-60	blood:	n/a	n/a
40	POLR2A	chr8:61192995-61194378	K562	blood:	n/a	n/a
41	POLR2A	chr8:61193177-61194371	K562	blood:	n/a	n/a
42	POLR2A	chr8:61193464-61194321	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:61193566-61194272	K562	blood:	n/a	n/a
44	POLR2A	chr8:61193572-61194397	K562	blood:	n/a	n/a
45	ELF1	chr8:61193783-61194362	K562	blood:	n/a	chr8:61193838-61193847
46	TAF1	chr8:61193599-61194421	K562	blood:	n/a	n/a
47	NR2F2	chr8:61193684-61194549	K562	blood:	n/a	n/a
48	CREB1	chr8:61193784-61194262	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:61193155-61194318	HL-60	blood:	n/a	n/a
50	CREB1	chr8:61193692-61194291	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61194236-61194286	HRE	kidney:	n/a
2	chr8:61194236-61194286	A549	lung:	n/a
3	chr8:61194236-61194286	HCF	heart:	n/a
4	chr8:61194236-61194286	MCF-7	breast:	n/a
5	chr8:61194236-61194286	BE2_C	brain:	n/a
6	chr8:61194236-61194286	GM12878	blood:	n/a
7	chr8:61194236-61194286	AG09309	skin:	n/a
8	chr8:61194236-61194286	PrEC	prostate:	n/a
9	chr8:61194236-61194286	GM19239	blood:	n/a
10	chr8:61194236-61194286	Caco-2	colon:	n/a
11	chr8:61194236-61194286	MCF10A-Er-Src	breast:	n/a
12	chr8:61194236-61194286	AG10803	skin:	n/a
13	chr8:61194236-61194286	HCPEpiC	choroid plexus:	n/a
14	chr8:61194236-61194286	HRPEpiC	eye:	n/a
15	chr8:61194236-61194286	LNCaP	prostate:	n/a
16	chr8:61194236-61194286	GM12892	blood:	n/a
17	chr8:61194236-61194286	T-47D	breast:	n/a
18	chr8:61194236-61194286	K562	blood:	n/a
19	chr8:61194236-61194286	AoSMC	blood vessel:	n/a
20	chr8:61194236-61194286	HUVEC	blood vessel:	n/a
21	chr8:61194236-61194286	NHDF-neo	bronchial:	n/a
22	chr8:61194236-61194286	CMK	blood:	n/a
23	chr8:61194236-61194286	BJ	skin:	n/a
24	chr8:61194236-61194286	HEK293	kidney:	embryo
25	chr8:61194236-61194286	SK-N-MC	brain:	n/a
26	chr8:61194236-61194286	SK-N-SH_RA	brain:	n/a
27	chr8:61194236-61194286	SKMC	muscle:	n/a
28	chr8:61194236-61194286	Jurkat	blood:	n/a
29	chr8:61194236-61194286	HIPEpiC	eye:	n/a
30	chr8:61194236-61194286	AG04449	skin:	fetal
31	chr8:61194236-61194286	NH-A	brain:	n/a
32	chr8:61194236-61194286	HEEpiC	esophagus:	n/a
33	chr8:61194236-61194286	AG09319	gingival:	n/a
34	chr8:61194236-61194286	PANC-1	pancreas:	n/a
35	chr8:61194236-61194286	HL-60	blood:	n/a
36	chr8:61194236-61194286	NHBE	bronchial:	n/a
37	chr8:61194236-61194286	GM06990	blood:	n/a
38	chr8:61194236-61194286	HNPCEpiC	eye:	n/a
39	chr8:61194236-61194286	SAEC	small airway:	n/a
40	chr8:61194236-61194286	Hepatocyte	liver:	n/a
41	chr8:61194236-61194286	U87	brain:	n/a
42	chr8:61194236-61194286	ovcar-3	ovarian:	n/a
43	chr8:61194236-61194286	HCM	heart:	n/a
44	chr8:61194236-61194286	PFSK-1	brain:	n/a
45	chr8:61194236-61194286	NB4	blood:	n/a
46	chr8:61194236-61194286	HCT-116	colon:	n/a
47	chr8:61194236-61194286	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:61194236-61194286	HRCEpiC	kidney:	n/a
49	chr8:61194236-61194286	SK-N-SH	brain:	n/a
50	chr8:61194236-61194286	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:1781900..1782740-chr8:61193613..61194393,2	NB4	blood:
2	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:
3	chr17:56736316..56737048-chr8:61193710..61194257,2	NB4	blood:

Variant related genes	Relation type
CA8	TF binding region
CA8	CpG island
ENSG00000202077	Chromatin interaction
ENSG00000236081	Chromatin interaction
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10504308	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11996007	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997891	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155603	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676801	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679218	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925975	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926000	0.81[ASN][1000 genomes]
rs1842391	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737555	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738802	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55948763	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56275436	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57360505	0.82[ASN][1000 genomes]
rs59616608	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59700121	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60042864	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60690040	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61057972	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648503	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72665113	0.94[ASN][1000 genomes]
rs72665118	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665119	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665124	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665137	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7462854	0.93[ASN][1000 genomes]
rs7820639	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827209	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839481	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9693218	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61191800-61194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61192200-61194600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:61192200-61194800	Active TSS	Right Atrium	heart
4	chr8:61192400-61194600	Active TSS	K562	blood
5	chr8:61192600-61194400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:61192600-61194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:61192800-61194400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr8:61192800-61194600	Bivalent/Poised TSS	Fetal Stomach	stomach
9	chr8:61193000-61194400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:61193000-61194400	Active TSS	Primary T cells from cord blood	blood
11	chr8:61193000-61194400	Active TSS	Brain Cingulate Gyrus	brain
12	chr8:61193000-61194400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:61193000-61194400	Bivalent/Poised TSS	Thymus	Thymus
14	chr8:61193000-61194600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:61193000-61194600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:61193000-61194600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:61193000-61194600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:61193000-61194600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr8:61193000-61194600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr8:61193000-61194600	Active TSS	Brain Hippocampus Middle	brain
21	chr8:61193000-61194600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:61193200-61194400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:61193200-61194400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61193200-61194400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:61193200-61194400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr8:61193200-61194400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:61193200-61194400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr8:61193200-61194400	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr8:61193200-61194400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr8:61193200-61194400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr8:61193200-61194400	Bivalent/Poised TSS	Small Intestine	intestine
36	chr8:61193200-61194600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:61193200-61194600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr8:61193200-61194600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr8:61193200-61194800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:61193200-61194800	Active TSS	Brain Anterior Caudate	brain
42	chr8:61193400-61194400	Active TSS	Stomach Mucosa	stomach
43	chr8:61193400-61194400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr8:61193600-61194400	Flanking Active TSS	Pancreas	Pancrea
45	chr8:61193600-61194400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:61193600-61194600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
47	chr8:61193800-61194400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:61193800-61194400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:61193800-61194400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:61193800-61194400	Active TSS	Brain Angular Gyrus	brain

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