Variant report

Variant	rs8040457
Chromosome Location	chr15:83735926-83735927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:490)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr15:83735729-83736156	GM12878	blood:	n/a	n/a
2	MAX	chr15:83734961-83736565	Hela-S3	cervix:	n/a	chr15:83736450-83736459 chr15:83736451-83736458
3	CCNT2	chr15:83735379-83736331	K562	blood:	n/a	n/a
4	FOXM1	chr15:83735574-83736363	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:83735822-83736312	K562	blood:	n/a	n/a
6	TAL1	chr15:83735691-83736399	K562	blood:	n/a	n/a
7	POLR2A	chr15:83735348-83736637	GM18505	blood:	n/a	n/a
8	SRF	chr15:83735869-83736120	K562	blood:	n/a	n/a
9	ZNF384	chr15:83735778-83736480	K562	blood:	n/a	n/a
10	MYC	chr15:83735925-83735933	GM12878	blood:	n/a	n/a
11	RFX5	chr15:83735893-83736298	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:83735357-83736421	K562	blood:	n/a	n/a
13	FOXP2	chr15:83735445-83736258	PFSK-1	brain:	n/a	n/a
14	CEBPB	chr15:83735793-83736557	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:83735484-83736391	GM12878	blood:	n/a	n/a
16	HCFC1	chr15:83734526-83736662	Hela-S3	cervix:	n/a	n/a
17	ELK1	chr15:83735577-83736302	Hela-S3	cervix:	n/a	n/a
18	FOXM1	chr15:83735748-83736509	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:83735492-83736376	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr15:83735355-83736642	GM18526	blood:	n/a	n/a
21	BCL3	chr15:83735634-83736234	A549	lung:	n/a	chr15:83736083-83736096
22	POLR2A	chr15:83735073-83736364	H1-neurons	neurons:	n/a	n/a
23	REST	chr15:83735847-83736095	A549	lung:	n/a	chr15:83736071-83736084
24	SIN3AK20	chr15:83734714-83736677	MCF-7	breast:	n/a	n/a
25	ELF1	chr15:83735373-83736423	GM12878	blood:	n/a	chr15:83736017-83736029 chr15:83735966-83735978 chr15:83736004-83736013
26	TBP	chr15:83735183-83736377	H1-hESC	embryonic stem cell:	n/a	n/a
27	POU2F2	chr15:83735715-83736219	GM12891	blood:	n/a	n/a
28	KAP1	chr15:83735625-83736441	U2OS	brain:	n/a	n/a
29	MYC	chr15:83735488-83736235	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:83735116-83736360	K562	blood:	n/a	n/a
31	POLR2A	chr15:83735380-83736459	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr15:83734129-83736621	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr15:83735848-83736164	GM12878	blood:	n/a	chr15:83736044-83736053
34	USF2	chr15:83735699-83735991	H1-hESC	embryonic stem cell:	n/a	n/a
35	SRF	chr15:83735636-83736448	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:83735554-83736391	K562	blood:	n/a	n/a
37	RAD21	chr15:83735563-83736392	IMR90	lung:	n/a	chr15:83735964-83735977 chr15:83735962-83735976
38	YY1	chr15:83735288-83736269	SK-N-SH_RA	brain:	n/a	chr15:83736112-83736123 chr15:83735972-83735986
39	RCOR1	chr15:83735515-83736289	HepG2	liver:	n/a	n/a
40	ZBTB33	chr15:83735752-83736271	HCT-116	colon:	n/a	n/a
41	EP300	chr15:83735820-83736251	T-47D	breast:	n/a	chr15:83736072-83736088
42	POLR2A	chr15:83735414-83736560	HUVEC	blood vessel:	n/a	n/a
43	ELF1	chr15:83735646-83736484	MCF-7	breast:	n/a	chr15:83736017-83736029 chr15:83735966-83735978 chr15:83736004-83736013
44	ATF3	chr15:83735783-83736284	A549	lung:	n/a	chr15:83736046-83736055
45	TCF7L2	chr15:83735268-83736378	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:83735445-83736264	A549	lung:	n/a	n/a
47	MXI1	chr15:83735237-83736648	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:83735736-83736292	HepG2	liver:	n/a	n/a
49	TBL1XR1	chr15:83735563-83736688	K562	blood:	n/a	n/a
50	EGR1	chr15:83735479-83736233	K562	blood:	n/a	chr15:83736049-83736062 chr15:83736049-83736062 chr15:83736049-83736062 chr15:83736044-83736066

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83735916-83735966	Hela-S3	cervix:	n/a
2	chr15:83735916-83735966	HIPEpiC	eye:	n/a
3	chr15:83735916-83735966	HCF	heart:	n/a
4	chr15:83735916-83735966	MCF10A-Er-Src	breast:	n/a
5	chr15:83735916-83735966	MCF-7	breast:	n/a
6	chr15:83735916-83735966	HCT-116	colon:	n/a
7	chr15:83735916-83735966	HRCEpiC	kidney:	n/a
8	chr15:83735916-83735966	NHDF-neo	bronchial:	n/a
9	chr15:83735916-83735966	NHBE	bronchial:	n/a
10	chr15:83735916-83735966	HL-60	blood:	n/a
11	chr15:83735916-83735966	AG09319	gingival:	n/a
12	chr15:83735916-83735966	U87	brain:	n/a
13	chr15:83735916-83735966	HNPCEpiC	eye:	n/a
14	chr15:83735916-83735966	T-47D	breast:	n/a
15	chr15:83735916-83735966	RPTEC	kidney:	n/a
16	chr15:83735916-83735966	SAEC	small airway:	n/a
17	chr15:83735916-83735966	SK-N-SH_RA	brain:	n/a
18	chr15:83735916-83735966	GM12891	blood:	n/a
19	chr15:83735916-83735966	NT2-D1	testis:	n/a
20	chr15:83735916-83735966	HCPEpiC	choroid plexus:	n/a
21	chr15:83735916-83735966	GM06990	blood:	n/a
22	chr15:83735916-83735966	AG10803	skin:	n/a
23	chr15:83735916-83735966	HCM	heart:	n/a
24	chr15:83735916-83735966	Jurkat	blood:	n/a
25	chr15:83735916-83735966	AG09309	skin:	n/a
26	chr15:83735916-83735966	AoSMC	blood vessel:	n/a
27	chr15:83735916-83735966	GM19239	blood:	n/a
28	chr15:83735916-83735966	PANC-1	pancreas:	n/a
29	chr15:83735916-83735966	PFSK-1	brain:	n/a
30	chr15:83735916-83735966	CMK	blood:	n/a
31	chr15:83735916-83735966	ECC-1	luminal epithelium:	n/a
32	chr15:83735916-83735966	GM12892	blood:	n/a
33	chr15:83735916-83735966	IMR90	lung:	fetal
34	chr15:83735916-83735966	K562	blood:	n/a
35	chr15:83735916-83735966	HRPEpiC	eye:	n/a
36	chr15:83735916-83735966	SK-N-SH	brain:	n/a
37	chr15:83735916-83735966	SK-N-MC	brain:	n/a
38	chr15:83735916-83735966	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:83735916-83735966	Hepatocyte	liver:	n/a
40	chr15:83735916-83735966	NB4	blood:	n/a
41	chr15:83735916-83735966	ovcar-3	ovarian:	n/a
42	chr15:83735916-83735966	BE2_C	brain:	n/a
43	chr15:83735916-83735966	Caco-2	colon:	n/a
44	chr15:83735916-83735966	HepG2	liver:	n/a
45	chr15:83735916-83735966	NH-A	brain:	n/a
46	chr15:83735916-83735966	HUVEC	blood vessel:	n/a
47	chr15:83735916-83735966	HEEpiC	esophagus:	n/a
48	chr15:83735916-83735966	ProgFib	skin:	n/a
49	chr15:83735916-83735966	BJ	skin:	n/a
50	chr15:83735916-83735966	SKMC	muscle:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
2	chr15:83734393..83737227-chr15:83876568..83879136,2	K562	blood:
3	chr15:83678946..83682301-chr15:83733959..83737732,7	K562	blood:
4	chr15:83679205..83686226-chr15:83733349..83739878,12	K562	blood:
5	chr15:83417737..83419972-chr15:83734703..83737369,2	K562	blood:
6	chr15:83734097..83737104-chr15:83774428..83777906,3	MCF-7	breast:
7	chr15:83517447..83519172-chr15:83734452..83736515,2	K562	blood:
8	chr15:83678535..83684480-chr15:83731660..83738533,12	MCF-7	breast:
9	chr15:83735297..83736151-chr20:30194183..30194999,2	Hela-S3	cervix:
10	chr15:83731075..83738271-chr15:83771545..83781798,12	K562	blood:
11	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
12	chr15:83723727..83726962-chr15:83733649..83736158,3	MCF-7	breast:
13	chr15:83417728..83420230-chr15:83734456..83736230,2	MCF-7	breast:
14	chr15:83735435..83736051-chr9:19379976..19380496,2	HCT-116	colon:
15	chr1:151963482..151966258-chr15:83734054..83736010,2	MCF-7	breast:
16	chr15:83734261..83736766-chr17:57914327..57917221,2	MCF-7	breast:
17	chr15:83679004..83681789-chr15:83733343..83738150,8	MCF-7	breast:
18	chr15:83735557..83736529-chr17:70588560..70589364,2	HCT-116	colon:
19	chr15:83735124..83736860-chr3:38064353..38067119,2	MCF-7	breast:
20	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:
21	chr15:83734435..83737238-chr15:83775284..83776851,2	MCF-7	breast:
22	chr15:83734209..83736655-chr16:89627024..89629879,2	MCF-7	breast:
23	chr15:83735417..83736251-chr3:9834490..9835064,2	Hela-S3	cervix:
24	chr15:83697758..83699573-chr15:83735210..83737094,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4515	TF binding region
BTBD1	TF binding region
MIR4515	CpG island
BTBD1	CpG island
ENSG00000169609	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000250151	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000249214	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000227036	Chromatin interaction
ENSG00000200084	Chromatin interaction
ENSG00000187091	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000241553	Chromatin interaction
ENSG00000136404	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000171148	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10400812	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11858074	0.94[ASN][1000 genomes]
rs12439782	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12592391	0.94[ASN][1000 genomes]
rs12593316	0.83[ASN][1000 genomes]
rs12899522	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12900411	0.94[ASN][1000 genomes]
rs12901811	0.94[ASN][1000 genomes]
rs12902721	0.90[ASN][1000 genomes]
rs12903066	0.94[ASN][1000 genomes]
rs12904695	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12906027	0.94[ASN][1000 genomes]
rs12906626	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12907032	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911706	0.94[ASN][1000 genomes]
rs12911891	0.94[ASN][1000 genomes]
rs12913130	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12917594	0.95[ASN][1000 genomes]
rs13329195	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329269	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17158127	0.94[ASN][1000 genomes]
rs17507300	0.97[ASN][1000 genomes]
rs2084839	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2381030	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485801	0.95[ASN][1000 genomes]
rs28580677	0.98[ASN][1000 genomes]
rs3087804	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34869943	0.90[ASN][1000 genomes]
rs35207081	0.94[ASN][1000 genomes]
rs35627116	0.95[ASN][1000 genomes]
rs36038412	0.94[ASN][1000 genomes]
rs4079029	0.98[ASN][1000 genomes]
rs61375537	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6603044	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6603046	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66606849	0.94[ASN][1000 genomes]
rs67482297	0.94[ASN][1000 genomes]
rs67822554	0.94[ASN][1000 genomes]
rs7163516	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7166645	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170547	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172665	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7177599	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7181169	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750214	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757	0.94[ASN][1000 genomes]
rs8031896	0.97[ASN][1000 genomes]
rs8040998	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9646239	0.94[ASN][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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8040457	BTBD1	cis	Nerve Tibial	GTEx
rs8040457	BTBD1	cis	Skin Sun Exposed Lower leg	GTEx
rs8040457	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83731400-83736800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:83732800-83736200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr15:83732800-83736400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:83732800-83736600	Active TSS	Right Ventricle	heart
5	chr15:83733000-83736000	Active TSS	HMEC	breast
6	chr15:83733000-83736200	Active TSS	GM12878-XiMat	blood
7	chr15:83733000-83736600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:83733000-83736600	Active TSS	Psoas Muscle	Psoas
9	chr15:83733000-83736800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:83733200-83736200	Active TSS	K562	blood
11	chr15:83733400-83736200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:83733400-83736400	Active TSS	Fetal Intestine Large	intestine
13	chr15:83733400-83736400	Active TSS	Fetal Intestine Small	intestine
14	chr15:83733400-83736400	Active TSS	Ovary	ovary
15	chr15:83733800-83736200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:83733800-83736200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:83733800-83736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:83733800-83736200	Active TSS	Colonic Mucosa	Colon
19	chr15:83733800-83736400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:83733800-83736400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:83733800-83736400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr15:83733800-83736400	Active TSS	Left Ventricle	heart
23	chr15:83733800-83736600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr15:83733800-83736600	Active TSS	Fetal Kidney	kidney
25	chr15:83733800-83736600	Active TSS	HSMMtube	muscle
26	chr15:83734000-83736200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:83734000-83736200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr15:83734000-83736400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr15:83734000-83736400	Active TSS	NHLF	lung
30	chr15:83734200-83736200	Active TSS	HepG2	liver
31	chr15:83734200-83736200	Active TSS	HSMM	muscle
32	chr15:83734200-83736400	Active TSS	Aorta	Aorta
33	chr15:83734400-83736000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:83734400-83736200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:83734400-83736200	Active TSS	Gastric	stomach
36	chr15:83734400-83736400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:83734400-83736400	Active TSS	Esophagus	oesophagus
38	chr15:83734400-83736400	Active TSS	Lung	lung
39	chr15:83734400-83736400	Active TSS	Stomach Mucosa	stomach
40	chr15:83734400-83736400	Active TSS	NHDF-Ad	bronchial
41	chr15:83734600-83736200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr15:83734600-83736200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:83734600-83736200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr15:83734600-83736200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:83734600-83736200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr15:83734600-83736200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr15:83734600-83736200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr15:83734600-83736200	Active TSS	Fetal Muscle Leg	muscle
49	chr15:83734600-83736200	Active TSS	Fetal Thymus	thymus
50	chr15:83734600-83736200	Active TSS	Skeletal Muscle Female	skeletal muscle

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