Variant report

Variant	rs61057972
Chromosome Location	chr8:61193929-61193930
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	HDAC2	chr8:61193127-61194159	MCF-7	breast:	n/a	n/a
4	CREB1	chr8:61193635-61194262	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELK1	chr8:61193790-61194020	K562	blood:	n/a	n/a
6	PML	chr8:61193596-61194197	K562	blood:	n/a	n/a
7	GTF2F1	chr8:61193830-61193985	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:61193246-61194118	H1-hESC	embryonic stem cell:	n/a	chr8:61193498-61193507 chr8:61193790-61193799
9	HEY1	chr8:61193201-61194401	K562	blood:	n/a	chr8:61193773-61193788 chr8:61193765-61193780
10	MYC	chr8:61193232-61194271	NB4	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
11	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
12	ZNF143	chr8:61193718-61194069	H1-hESC	embryonic stem cell:	n/a	n/a
13	PML	chr8:61193724-61194152	MCF-7	breast:	n/a	n/a
14	HDAC2	chr8:61193501-61194137	H1-hESC	embryonic stem cell:	n/a	n/a
15	HDAC2	chr8:61193611-61194065	K562	blood:	n/a	n/a
16	YY1	chr8:61193553-61194106	K562	blood:	n/a	chr8:61193564-61193573 chr8:61193712-61193721
17	TCF12	chr8:61193540-61194165	A549	lung:	n/a	n/a
18	SIN3AK20	chr8:61193219-61194164	K562	blood:	n/a	n/a
19	POLR2A	chr8:61193553-61194240	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr8:61193634-61194135	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr8:61193053-61194082	K562	blood:	n/a	n/a
22	POLR2A	chr8:61193605-61194245	PANC-1	pancreas:	n/a	n/a
23	ETS1	chr8:61193630-61194113	K562	blood:	n/a	n/a
24	TAL1	chr8:61193139-61194101	K562	blood:	n/a	n/a
25	CTCF	chr8:61193703-61193954	K562	blood:	n/a	n/a
26	MAX	chr8:61193175-61194126	MCF-7	breast:	n/a	chr8:61193498-61193507 chr8:61193790-61193799
27	POLR2A	chr8:61193528-61194091	SK-N-MC	brain:	n/a	n/a
28	BHLHE40	chr8:61193167-61194404	K562	blood:	n/a	chr8:61193736-61193752 chr8:61193728-61193744
29	POLR2A	chr8:61193745-61194000	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:61193785-61194126	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZC3H11A	chr8:61193911-61194078	K562	blood:	n/a	n/a
32	HMGN3	chr8:61193245-61194322	K562	blood:	n/a	n/a
33	ZBTB7A	chr8:61193264-61194341	K562	blood:	n/a	n/a
34	MAX	chr8:61193048-61194271	A549	lung:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
35	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
36	MYC	chr8:61193170-61194134	K562	blood:	n/a	chr8:61193498-61193507 chr8:61193790-61193799
37	TBP	chr8:61193752-61194307	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr8:61193211-61194233	NB4	blood:	n/a	chr8:61193498-61193507 chr8:61194144-61194154 chr8:61193790-61193799
39	MYC	chr8:61193315-61194048	MCF-7	breast:	n/a	chr8:61193498-61193507 chr8:61193790-61193799
40	TAF1	chr8:61193768-61194142	H1-hESC	embryonic stem cell:	n/a	n/a
41	REST	chr8:61193120-61194633	H1-neurons	neurons:	n/a	chr8:61193738-61193751 chr8:61193755-61193775 chr8:61193576-61193585 chr8:61193758-61193771
42	E2F6	chr8:61193208-61194128	K562	blood:	n/a	chr8:61194116-61194125
43	POLR2A	chr8:61193559-61194245	MCF-7	breast:	n/a	n/a
44	CEBPD	chr8:61193508-61194299	K562	blood:	n/a	n/a
45	EP300	chr8:61193743-61194108	K562	blood:	n/a	chr8:61193794-61193807
46	TBP	chr8:61193041-61194404	K562	blood:	n/a	n/a
47	CEBPB	chr8:61193731-61194054	K562	blood:	n/a	n/a
48	TAF1	chr8:61193752-61194114	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:61193283-61194178	HEK293	kidney:	n/a	n/a
50	SMC3	chr8:61193781-61193943	K562	blood:	n/a	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	chr3:160473342..160474139-chr8:61193523..61194215,2	NB4	blood:
4	chr17:56736316..56737048-chr8:61193710..61194257,2	NB4	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000163590	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	0.81[ASN][1000 genomes]
rs11996007	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997891	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155603	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676801	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679218	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925975	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926000	0.81[ASN][1000 genomes]
rs1842391	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737555	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738802	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55948763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56275436	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57360505	0.82[ASN][1000 genomes]
rs59616608	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59700121	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60042864	0.82[ASN][1000 genomes]
rs60690040	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648503	0.81[ASN][1000 genomes]
rs72665113	0.94[ASN][1000 genomes]
rs72665118	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665119	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665124	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665137	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7462854	0.93[ASN][1000 genomes]
rs7463394	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820639	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827209	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839481	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9693218	0.91[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:115 , 50 per page) page: 1 2 3

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	chr8:61192400-61194200	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr8:61192400-61194200	Active TSS	A549	lung
6	chr8:61192400-61194600	Active TSS	K562	blood
7	chr8:61192600-61194400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:61192600-61194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:61192800-61194200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:61192800-61194400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr8:61192800-61194600	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr8:61193000-61194000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:61193000-61194000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:61193000-61194000	Bivalent/Poised TSS	Left Ventricle	heart
15	chr8:61193000-61194400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:61193000-61194400	Active TSS	Primary T cells from cord blood	blood
17	chr8:61193000-61194400	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:61193000-61194400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:61193000-61194400	Bivalent/Poised TSS	Thymus	Thymus
20	chr8:61193000-61194600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:61193000-61194600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr8:61193000-61194600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:61193000-61194600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:61193000-61194600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:61193000-61194600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr8:61193000-61194600	Active TSS	Brain Hippocampus Middle	brain
27	chr8:61193000-61194600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:61193200-61194000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:61193200-61194000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr8:61193200-61194000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr8:61193200-61194000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr8:61193200-61194000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
42	chr8:61193200-61194000	Bivalent/Poised TSS	Placenta	Placenta
43	chr8:61193200-61194000	Active TSS	Gastric	stomach
44	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
45	chr8:61193200-61194000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
46	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr8:61193200-61194000	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr8:61193200-61194000	Bivalent/Poised TSS	NHEK	skin
49	chr8:61193200-61194200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:61193200-61194200	Bivalent/Poised TSS	Fetal Thymus	thymus

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