Variant report

Variant	rs2740792
Chromosome Location	chr8:91997679-91997680
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	ZBTB7A	chr8:91997043-91997928	K562	blood:	n/a	chr8:91997767-91997775 chr8:91997265-91997276
2	POU2F2	chr8:91997519-91998025	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:91997208-91997922	HEK293	kidney:	n/a	n/a
4	UBTF	chr8:91997242-91997925	K562	blood:	n/a	n/a
5	POLR2A	chr8:91997061-91997965	IMR90	lung:	n/a	n/a
6	FOXP2	chr8:91997506-91998051	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr8:91997580-91997730	NHEK	skin:	n/a	n/a
8	MAX	chr8:91997452-91997958	A549	lung:	n/a	n/a
9	SIN3AK20	chr8:91997473-91998014	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr8:91997540-91997690	HA-sp	spinal cord:	n/a	n/a
11	POLR2A	chr8:91997507-91998465	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr8:91997219-91998481	K562	blood:	n/a	n/a
13	CTCF	chr8:91997545-91997884	GM12878	blood:	n/a	chr8:91997821-91997834 chr8:91997818-91997831
14	MAX	chr8:91997067-91998130	ECC-1	luminal epithelium:	n/a	n/a
15	RCOR1	chr8:91996354-91998018	K562	blood:	n/a	n/a
16	POLR2A	chr8:91997677-91997978	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:91997672-91997772	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:91997016-91998529	SK-N-MC	brain:	n/a	n/a
19	STAT1	chr8:91997531-91997721	GM12878	blood:	n/a	n/a
20	E2F6	chr8:91997336-91998032	H1-hESC	embryonic stem cell:	n/a	chr8:91997628-91997642 chr8:91997552-91997561
21	POLR2A	chr8:91997514-91997883	SK-N-SH	brain:	n/a	n/a
22	IRF1	chr8:91997040-91997840	K562	blood:	n/a	chr8:91997221-91997230 chr8:91997558-91997572
23	MAX	chr8:91996828-91997984	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:91996980-91998285	K562	blood:	n/a	n/a
25	POLR2A	chr8:91997530-91997826	H1-hESC	embryonic stem cell:	n/a	n/a
26	BHLHE40	chr8:91996996-91998092	K562	blood:	n/a	chr8:91997817-91997833
27	HEY1	chr8:91997510-91997930	K562	blood:	n/a	n/a
28	CTCF	chr8:91997660-91997810	GM12873	blood:	n/a	n/a
29	MYC	chr8:91996626-91998070	K562	blood:	n/a	n/a
30	MAZ	chr8:91996630-91998100	K562	blood:	n/a	n/a
31	ETS1	chr8:91997567-91998022	K562	blood:	n/a	n/a
32	POLR2A	chr8:91997172-91998000	GM12878	blood:	n/a	n/a
33	TAF1	chr8:91997527-91997955	K562	blood:	n/a	n/a
34	POLR2A	chr8:91997526-91997906	GM12892	blood:	n/a	n/a
35	POLR2A	chr8:91997528-91997777	GM12891	blood:	n/a	n/a
36	REST	chr8:91997512-91997811	PANC-1	pancreas:	n/a	chr8:91997674-91997687
37	EP300	chr8:91997435-91998122	ECC-1	luminal epithelium:	n/a	chr8:91997941-91997957 chr8:91997552-91997561
38	TEAD4	chr8:91997156-91997983	K562	blood:	n/a	n/a
39	TCF7L2	chr8:91997665-91997991	PANC-1	pancreas:	n/a	n/a
40	TCF12	chr8:91997388-91998095	ECC-1	luminal epithelium:	n/a	chr8:91997645-91997655
41	ZBTB7A	chr8:91996914-91997970	K562	blood:	n/a	chr8:91997767-91997775 chr8:91997265-91997276
42	YY1	chr8:91997501-91998060	K562	blood:	n/a	n/a
43	POLR2A	chr8:91996697-91998542	GM19099	blood:	n/a	n/a
44	MAX	chr8:91996953-91998088	K562	blood:	n/a	n/a
45	POLR2A	chr8:91997259-91998027	HUVEC	blood vessel:	n/a	n/a
46	BACH1	chr8:91997054-91997739	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chr8:91997193-91998080	K562	blood:	n/a	chr8:91997628-91997642 chr8:91997552-91997561
48	POLR2A	chr8:91997221-91997988	NB4	blood:	n/a	n/a
49	PML	chr8:91997496-91998047	K562	blood:	n/a	n/a
50	POLR2A	chr8:91997072-91998128	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
2	chr8:91997600..92000218-chr8:92017780..92019513,2	K562	blood:
3	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
4	chr8:91996349..91999224-chr8:92056990..92058927,3	K562	blood:
5	chr8:90914226..90916241-chr8:91996581..91998635,2	K562	blood:
6	chr8:91997520..92000629-chr8:92050976..92054061,7	K562	blood:
7	chr8:91658730..91663792-chr8:91996044..91998781,4	K562	blood:
8	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
9	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
10	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:

Variant related genes	Relation type
C8orf88	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13276591	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2054805	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2631024	0.80[EUR][1000 genomes]
rs2740776	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818155	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7828122	0.85[AMR][1000 genomes];0.86[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1028201	chr8:91968527-92009964	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 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	chr8:91994000-91997800	Active TSS	Stomach Smooth Muscle	stomach
2	chr8:91995000-91997800	Active TSS	GM12878-XiMat	blood
3	chr8:91995000-91998000	Active TSS	Colon Smooth Muscle	Colon
4	chr8:91995400-91998000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:91995400-91998000	Active TSS	K562	blood
6	chr8:91995800-91998000	Active TSS	NHDF-Ad	bronchial
7	chr8:91996000-91998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:91996200-91997800	Active TSS	Right Ventricle	heart
9	chr8:91996200-91998000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:91996200-91998200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:91996200-91998200	Active TSS	NHLF	lung
12	chr8:91996200-91998600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:91996400-91997800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:91996400-91997800	Active TSS	Fetal Lung	lung
15	chr8:91996400-91997800	Active TSS	Rectal Smooth Muscle	rectum
16	chr8:91996400-91997800	Active TSS	Osteobl	bone
17	chr8:91996400-91998000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:91996400-91998200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:91996400-91998400	Active TSS	Brain Hippocampus Middle	brain
20	chr8:91996400-91998400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:91996600-91997800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:91996600-91997800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:91996600-91998000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:91996600-91998200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:91996600-91998200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr8:91996600-91998200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:91996600-91998200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:91996600-91998200	Active TSS	Aorta	Aorta
29	chr8:91996600-91998200	Active TSS	Brain Cingulate Gyrus	brain
30	chr8:91996600-91998200	Active TSS	Fetal Brain Female	brain
31	chr8:91996600-91998200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr8:91996600-91998200	Active TSS	Ovary	ovary
33	chr8:91996600-91998400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:91996600-91998400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr8:91996600-91998400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:91996800-91997800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr8:91996800-91997800	Bivalent/Poised TSS	Liver	Liver
38	chr8:91996800-91997800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr8:91996800-91997800	Active TSS	Esophagus	oesophagus
40	chr8:91996800-91997800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr8:91996800-91997800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
42	chr8:91996800-91997800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr8:91996800-91997800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
44	chr8:91996800-91997800	Active TSS	HUVEC	blood vessel
45	chr8:91996800-91998000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:91996800-91998000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:91996800-91998000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:91996800-91998000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:91996800-91998000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:91996800-91998000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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