Variant report

Variant	rs2291940
Chromosome Location	chr5:80597767-80597768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:80596906-80597780	HepG2	liver:	n/a	n/a
2	TEAD4	chr5:80597038-80597910	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr5:80597127-80597789	GM12878	blood:	n/a	n/a
4	TAF1	chr5:80597110-80597769	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr5:80597060-80597829	GM12878	blood:	n/a	n/a
6	BRCA1	chr5:80597044-80597792	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:80596604-80598133	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr5:80596993-80597955	K562	blood:	n/a	n/a
9	SP1	chr5:80596990-80597833	HCT-116	colon:	n/a	n/a
10	CBX3	chr5:80597025-80597890	K562	blood:	n/a	n/a
11	POU2F2	chr5:80597011-80597776	GM12878	blood:	n/a	n/a
12	MXI1	chr5:80596442-80598163	SK-N-SH	brain:	n/a	chr5:80597972-80597987
13	EP300	chr5:80597077-80597857	HepG2	liver:	n/a	chr5:80597383-80597390 chr5:80597809-80597818 chr5:80597679-80597695
14	CREB1	chr5:80596990-80597892	K562	blood:	n/a	n/a
15	CHD1	chr5:80597158-80597907	GM12878	blood:	n/a	n/a
16	ZMIZ1	chr5:80597069-80597897	K562	blood:	n/a	n/a
17	NR2C2	chr5:80597103-80597947	Hela-S3	cervix:	n/a	n/a
18	EGR1	chr5:80596975-80597838	HCT-116	colon:	n/a	chr5:80597636-80597646 chr5:80597382-80597391
19	POLR2A	chr5:80596940-80597831	H1-neurons	neurons:	n/a	n/a
20	CCNT2	chr5:80597329-80597825	K562	blood:	n/a	n/a
21	POLR2A	chr5:80596905-80597897	K562	blood:	n/a	n/a
22	EGR1	chr5:80597110-80597858	K562	blood:	n/a	chr5:80597636-80597646 chr5:80597382-80597391
23	IRF1	chr5:80597098-80597840	K562	blood:	n/a	n/a
24	GABPA	chr5:80596916-80598063	SK-N-SH	brain:	n/a	n/a
25	BHLHE40	chr5:80597079-80597909	K562	blood:	n/a	chr5:80597683-80597699
26	SIN3AK20	chr5:80596893-80597897	MCF-7	breast:	n/a	n/a
27	TAF1	chr5:80596907-80597868	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:80597135-80597817	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:80596998-80597987	K562	blood:	n/a	n/a
30	GABPA	chr5:80596945-80597911	MCF-7	breast:	n/a	n/a
31	GABPA	chr5:80596897-80597944	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr5:80596995-80597900	SK-N-SH	brain:	n/a	n/a
33	MAZ	chr5:80597146-80597920	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr5:80597313-80597856	K562	blood:	n/a	n/a
35	POLR2A	chr5:80597031-80597905	HepG2	liver:	n/a	n/a
36	MAZ	chr5:80597157-80597850	GM12878	blood:	n/a	n/a
37	TEAD4	chr5:80596651-80597958	K562	blood:	n/a	n/a
38	ELK1	chr5:80597212-80597829	GM12878	blood:	n/a	chr5:80597382-80597391 chr5:80597382-80597391
39	POLR2A	chr5:80597069-80597836	GM12878	blood:	n/a	n/a
40	TAF1	chr5:80596933-80597990	K562	blood:	n/a	n/a
41	POLR2A	chr5:80597032-80597841	GM12892	blood:	n/a	n/a
42	POLR2A	chr5:80597089-80598049	K562	blood:	n/a	n/a
43	POLR2A	chr5:80597032-80597931	HUVEC	blood vessel:	n/a	n/a
44	MYC	chr5:80596795-80597854	K562	blood:	n/a	n/a
45	HA-E2F1	chr5:80596937-80597914	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:80597105-80597784	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:80597006-80597882	K562	blood:	n/a	n/a
48	TBL1XR1	chr5:80597132-80597843	GM12878	blood:	n/a	n/a
49	TAF1	chr5:80597102-80597833	HepG2	liver:	n/a	n/a
50	ELF1	chr5:80597094-80597813	GM12878	blood:	n/a	chr5:80597378-80597391 chr5:80597380-80597391 chr5:80597411-80597424

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:80597718-80597768	ProgFib	skin:	n/a
2	chr5:80597718-80597768	RPTEC	kidney:	n/a
3	chr5:80597718-80597768	BE2_C	brain:	n/a
4	chr5:80597718-80597768	LNCaP	prostate:	n/a
5	chr5:80597718-80597768	HMEC	breast:	n/a
6	chr5:80597718-80597768	AG04449	skin:	fetal
7	chr5:80597718-80597768	HUVEC	blood vessel:	n/a
8	chr5:80597718-80597768	Hepatocyte	liver:	n/a
9	chr5:80597718-80597768	SAEC	small airway:	n/a
10	chr5:80597718-80597768	U87	brain:	n/a
11	chr5:80597718-80597768	GM12878	blood:	n/a
12	chr5:80597718-80597768	A549	lung:	n/a
13	chr5:80597718-80597768	HepG2	liver:	n/a
14	chr5:80597718-80597768	AoSMC	blood vessel:	n/a
15	chr5:80597718-80597768	Caco-2	colon:	n/a
16	chr5:80597718-80597768	HL-60	blood:	n/a
17	chr5:80597718-80597768	HNPCEpiC	eye:	n/a
18	chr5:80597718-80597768	SK-N-SH_RA	brain:	n/a
19	chr5:80597718-80597768	T-47D	breast:	n/a
20	chr5:80597718-80597768	GM12892	blood:	n/a
21	chr5:80597718-80597768	ECC-1	luminal epithelium:	n/a
22	chr5:80597718-80597768	SK-N-SH	brain:	n/a
23	chr5:80597718-80597768	GM19239	blood:	n/a
24	chr5:80597718-80597768	AG04450	lung:	fetal
25	chr5:80597718-80597768	NHDF-neo	bronchial:	n/a
26	chr5:80597718-80597768	GM12891	blood:	n/a
27	chr5:80597718-80597768	NH-A	brain:	n/a
28	chr5:80597718-80597768	CMK	blood:	n/a
29	chr5:80597718-80597768	AG09309	skin:	n/a
30	chr5:80597718-80597768	NT2-D1	testis:	n/a
31	chr5:80597718-80597768	GM06990	blood:	n/a
32	chr5:80597718-80597768	HCT-116	colon:	n/a
33	chr5:80597718-80597768	NB4	blood:	n/a
34	chr5:80597718-80597768	SKMC	muscle:	n/a
35	chr5:80597718-80597768	HRPEpiC	eye:	n/a
36	chr5:80597718-80597768	SK-N-MC	brain:	n/a
37	chr5:80597718-80597768	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:80597718-80597768	PrEC	prostate:	n/a
39	chr5:80597718-80597768	PANC-1	pancreas:	n/a
40	chr5:80597718-80597768	PFSK-1	brain:	n/a
41	chr5:80597718-80597768	Hela-S3	cervix:	n/a
42	chr5:80597718-80597768	HRE	kidney:	n/a
43	chr5:80597718-80597768	HCPEpiC	choroid plexus:	n/a
44	chr5:80597718-80597768	HEK293	kidney:	embryo
45	chr5:80597718-80597768	IMR90	lung:	fetal
46	chr5:80597718-80597768	HCM	heart:	n/a
47	chr5:80597718-80597768	MCF-7	breast:	n/a
48	chr5:80597718-80597768	AG10803	skin:	n/a
49	chr5:80597718-80597768	HRCEpiC	kidney:	n/a
50	chr5:80597718-80597768	MCF10A-Er-Src	breast:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:87793815..87794355-chr5:80596988..80597951,2	HCT-116	colon:

No data

Variant related genes	Relation type
CKMT2-AS1	TF binding region
CKMT2-AS1	CpG island
ENSG00000143013	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13159978	0.84[TSI][hapmap]
rs13185398	0.85[CHB][hapmap]
rs13187211	0.85[EUR][1000 genomes]
rs16878538	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs16878572	0.90[GIH][hapmap];0.92[TSI][hapmap]
rs2270825	0.90[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2406555	0.88[EUR][1000 genomes]
rs34198027	0.87[EUR][1000 genomes]
rs34378267	0.81[EUR][1000 genomes]
rs35864788	0.93[EUR][1000 genomes]
rs35926115	0.84[ASN][1000 genomes]
rs6870105	0.82[CHB][hapmap]
rs6893150	0.85[CHB][hapmap]
rs6899067	0.87[EUR][1000 genomes]
rs7709155	0.85[CHB][hapmap]
rs7725743	0.92[TSI][hapmap]
rs7732785	0.85[CHB][hapmap]
rs976741	0.90[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:80593800-80599800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:80595200-80598200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr5:80595200-80598200	Active TSS	Right Atrium	heart
4	chr5:80595200-80598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:80595400-80598200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:80595400-80598200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:80595400-80598600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:80595400-80598800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:80595800-80598400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80595800-80598400	Active TSS	Fetal Kidney	kidney
11	chr5:80595800-80598400	Active TSS	K562	blood
12	chr5:80596000-80598200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:80596000-80598400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:80596000-80598400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:80596200-80598000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:80596200-80598200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:80596200-80598200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:80596200-80598800	Active TSS	NHLF	lung
19	chr5:80596400-80598000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:80596400-80598000	Active TSS	Fetal Muscle Trunk	muscle
21	chr5:80596400-80598000	Active TSS	Placenta	Placenta
22	chr5:80596400-80598000	Active TSS	Lung	lung
23	chr5:80596400-80598000	Active TSS	Ovary	ovary
24	chr5:80596400-80598400	Active TSS	A549	lung
25	chr5:80596400-80598400	Active TSS	NHDF-Ad	bronchial
26	chr5:80596400-80598600	Active TSS	Aorta	Aorta
27	chr5:80596400-80598800	Active TSS	GM12878-XiMat	blood
28	chr5:80596600-80598000	Active TSS	Esophagus	oesophagus
29	chr5:80596600-80598000	Active TSS	Fetal Brain Female	brain
30	chr5:80596600-80598200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr5:80596600-80598200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:80596600-80598200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:80596600-80598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:80596600-80598200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:80596600-80598200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:80596600-80598200	Active TSS	Fetal Intestine Large	intestine
39	chr5:80596600-80598200	Active TSS	Left Ventricle	heart
40	chr5:80596600-80598200	Active TSS	Pancreas	Pancrea
41	chr5:80596600-80598200	Active TSS	Hela-S3	cervix
42	chr5:80596600-80598200	Active TSS	HMEC	breast
43	chr5:80596600-80598200	Active TSS	HSMMtube	muscle
44	chr5:80596600-80598400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:80596600-80598400	Active TSS	Psoas Muscle	Psoas
46	chr5:80596600-80598800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:80596800-80597800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:80596800-80597800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:80596800-80597800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:80596800-80597800	Active TSS	Stomach Mucosa	stomach

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