Variant report

Variant	rs38415
Chromosome Location	chr7:30544747-30544748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:434)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:30543684-30544834	Hela-S3	cervix:	n/a	chr7:30544110-30544119
2	FOXA1	chr7:30544275-30544813	T-47D	breast:	n/a	n/a
3	HCFC1	chr7:30544161-30545053	K562	blood:	n/a	n/a
4	CEBPB	chr7:30544472-30544823	ECC-1	luminal epithelium:	n/a	chr7:30544492-30544500
5	CBX3	chr7:30544132-30545117	K562	blood:	n/a	n/a
6	SPI1	chr7:30544397-30544754	GM12878	blood:	n/a	chr7:30544661-30544668
7	MYC	chr7:30543779-30545117	K562	blood:	n/a	chr7:30544110-30544119
8	POLR2A	chr7:30543199-30545052	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:30543923-30544951	GM12878	blood:	n/a	n/a
10	MYC	chr7:30544230-30544789	HepG2	liver:	n/a	n/a
11	TAF1	chr7:30544145-30544869	K562	blood:	n/a	n/a
12	BCLAF1	chr7:30544084-30545000	GM12878	blood:	n/a	n/a
13	TAF1	chr7:30544598-30544881	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:30543991-30545051	HUVEC	blood vessel:	n/a	n/a
15	SP1	chr7:30544316-30544834	K562	blood:	n/a	chr7:30544556-30544570 chr7:30544481-30544502 chr7:30544605-30544626 chr7:30544521-30544542 chr7:30544638-30544647
16	CEBPB	chr7:30544255-30544894	MCF-7	breast:	n/a	chr7:30544492-30544500
17	STAT5A	chr7:30544535-30545265	GM12878	blood:	n/a	n/a
18	UBTF	chr7:30544095-30545069	K562	blood:	n/a	n/a
19	RCOR1	chr7:30543793-30544946	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:30543622-30545568	GM12891	blood:	n/a	n/a
21	NFIC	chr7:30544376-30545086	GM12878	blood:	n/a	n/a
22	MXI1	chr7:30544116-30544835	K562	blood:	n/a	n/a
23	TAF1	chr7:30543972-30545173	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr7:30543915-30545006	K562	blood:	n/a	chr7:30544110-30544119
25	MYC	chr7:30543939-30544906	K562	blood:	n/a	chr7:30544110-30544119
26	POLR2A	chr7:30543764-30545088	GM12892	blood:	n/a	n/a
27	CTCF	chr7:30544740-30544890	AG09319	gingival:	n/a	n/a
28	POLR2A	chr7:30544188-30544924	HepG2	liver:	n/a	n/a
29	REST	chr7:30543602-30544981	A549	lung:	n/a	chr7:30544016-30544029
30	POLR2A	chr7:30543852-30544941	H1-hESC	embryonic stem cell:	n/a	n/a
31	SP2	chr7:30544378-30544790	K562	blood:	n/a	chr7:30544555-30544570
32	SP1	chr7:30544142-30544896	GM12878	blood:	n/a	chr7:30544556-30544570 chr7:30544481-30544502 chr7:30544605-30544626 chr7:30544521-30544542 chr7:30544638-30544647
33	SP4	chr7:30544619-30545020	H1-hESC	embryonic stem cell:	n/a	n/a
34	RFX5	chr7:30544290-30545080	HepG2	liver:	n/a	chr7:30544491-30544500
35	POLR2A	chr7:30544046-30545091	GM12878	blood:	n/a	n/a
36	GABPA	chr7:30543876-30545163	MCF-7	breast:	n/a	n/a
37	MYC	chr7:30543630-30545220	NB4	blood:	n/a	chr7:30544110-30544119 chr7:30545195-30545205
38	YY1	chr7:30544235-30544947	HCT-116	colon:	n/a	n/a
39	TCF12	chr7:30543964-30544977	ECC-1	luminal epithelium:	n/a	chr7:30544094-30544102
40	FOXM1	chr7:30543789-30544858	GM12878	blood:	n/a	n/a
41	BHLHE40	chr7:30544211-30544882	HepG2	liver:	n/a	n/a
42	NRF1	chr7:30544380-30544787	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:30544165-30544961	K562	blood:	n/a	n/a
44	POLR2A	chr7:30544000-30545224	HUVEC	blood vessel:	n/a	n/a
45	PML	chr7:30544001-30545135	GM12878	blood:	n/a	n/a
46	SMARCB1	chr7:30543759-30545057	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr7:30543775-30544847	HepG2	liver:	n/a	chr7:30544492-30544500
48	ZNF143	chr7:30544314-30544825	K562	blood:	n/a	n/a
49	SP1	chr7:30544197-30544883	HepG2	liver:	n/a	chr7:30544556-30544570 chr7:30544481-30544502 chr7:30544605-30544626 chr7:30544521-30544542 chr7:30544638-30544647
50	TAF1	chr7:30543811-30544995	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:30544737-30544787	MCF10A-Er-Src	breast:	n/a
2	chr7:30544737-30544787	U87	brain:	n/a
3	chr7:30544737-30544787	HepG2	liver:	n/a
4	chr7:30544737-30544787	AG04449	skin:	fetal
5	chr7:30544737-30544787	AG10803	skin:	n/a
6	chr7:30544737-30544787	SKMC	muscle:	n/a
7	chr7:30544737-30544787	AG09309	skin:	n/a
8	chr7:30544737-30544787	HIPEpiC	eye:	n/a
9	chr7:30544737-30544787	GM19239	blood:	n/a
10	chr7:30544737-30544787	HMEC	breast:	n/a
11	chr7:30544737-30544787	HEK293	kidney:	embryo
12	chr7:30544737-30544787	HCPEpiC	choroid plexus:	n/a
13	chr7:30544737-30544787	HL-60	blood:	n/a
14	chr7:30544737-30544787	SK-N-SH_RA	brain:	n/a
15	chr7:30544737-30544787	K562	blood:	n/a
16	chr7:30544737-30544787	LNCaP	prostate:	n/a
17	chr7:30544737-30544787	NHBE	bronchial:	n/a
18	chr7:30544737-30544787	ProgFib	skin:	n/a
19	chr7:30544737-30544787	GM12892	blood:	n/a
20	chr7:30544737-30544787	SK-N-MC	brain:	n/a
21	chr7:30544737-30544787	NT2-D1	testis:	n/a
22	chr7:30544737-30544787	GM12891	blood:	n/a
23	chr7:30544737-30544787	CMK	blood:	n/a
24	chr7:30544737-30544787	Caco-2	colon:	n/a
25	chr7:30544737-30544787	BJ	skin:	n/a
26	chr7:30544737-30544787	HUVEC	blood vessel:	n/a
27	chr7:30544737-30544787	ECC-1	luminal epithelium:	n/a
28	chr7:30544737-30544787	HRCEpiC	kidney:	n/a
29	chr7:30544737-30544787	AG09319	gingival:	n/a
30	chr7:30544737-30544787	BE2_C	brain:	n/a
31	chr7:30544737-30544787	HCF	heart:	n/a
32	chr7:30544737-30544787	NHDF-neo	bronchial:	n/a
33	chr7:30544737-30544787	HAEpiC	amniotic membrane:	n/a
34	chr7:30544737-30544787	PFSK-1	brain:	n/a
35	chr7:30544737-30544787	AoSMC	blood vessel:	n/a
36	chr7:30544737-30544787	A549	lung:	n/a
37	chr7:30544737-30544787	ovcar-3	ovarian:	n/a
38	chr7:30544737-30544787	MCF-7	breast:	n/a
39	chr7:30544737-30544787	HEEpiC	esophagus:	n/a
40	chr7:30544737-30544787	PrEC	prostate:	n/a
41	chr7:30544737-30544787	NB4	blood:	n/a
42	chr7:30544737-30544787	NH-A	brain:	n/a
43	chr7:30544737-30544787	GM06990	blood:	n/a
44	chr7:30544737-30544787	HCM	heart:	n/a
45	chr7:30544737-30544787	GM12878	blood:	n/a
46	chr7:30544737-30544787	AG04450	lung:	fetal
47	chr7:30544737-30544787	RPTEC	kidney:	n/a
48	chr7:30544737-30544787	Hepatocyte	liver:	n/a
49	chr7:30544737-30544787	PANC-1	pancreas:	n/a
50	chr7:30544737-30544787	HRPEpiC	eye:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:30516309..30520214-chr7:30539829..30545899,10	MCF-7	breast:
2	chr7:30514482..30520047-chr7:30541597..30545999,6	K562	blood:
3	chr7:30543086..30546896-chr7:30587990..30592067,4	MCF-7	breast:
4	chr7:30542906..30546609-chr7:30564616..30567471,3	K562	blood:
5	chr7:30540102..30542723-chr7:30542755..30545795,4	K562	blood:
6	chr13:111365510..111366164-chr7:30544419..30545177,2	NB4	blood:
7	chr7:30537997..30542227-chr7:30542503..30545909,8	MCF-7	breast:
8	chr7:30333594..30336443-chr7:30544651..30546483,2	K562	blood:
9	chr7:30516697..30519938-chr7:30542758..30546445,6	K562	blood:
10	chr7:30516038..30518897-chr7:30540788..30545615,6	MCF-7	breast:
11	chr1:46151520..46152279-chr7:30544339..30545254,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
GGCT	TF binding region
GGCT	CpG island
ENSG00000106100	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000264520	Chromatin interaction
ENSG00000263683	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000196295	Chromatin interaction
ENSG00000006625	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs28679	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38406	0.88[ASN][1000 genomes]
rs38407	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs38408	0.91[ASN][1000 genomes]
rs38409	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38410	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38411	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38413	0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38414	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs38416	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[ASN][1000 genomes]
rs38417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs38418	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38419	1.00[ASN][1000 genomes]
rs38420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs38421	0.95[ASN][1000 genomes]
rs38422	1.00[ASN][1000 genomes]
rs38423	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs38425	0.99[ASN][1000 genomes]
rs38426	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs38427	1.00[ASN][1000 genomes]
rs38428	0.88[ASN][1000 genomes]
rs38429	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs38430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs38432	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs38433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs38434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs38435	0.88[ASN][1000 genomes]
rs38436	0.88[ASN][1000 genomes]
rs38437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs38438	0.97[ASN][1000 genomes]
rs38440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38441	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs38442	0.80[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs38443	0.83[ASN][1000 genomes]
rs38444	0.88[ASN][1000 genomes]
rs38445	0.89[ASN][1000 genomes]
rs38446	0.89[ASN][1000 genomes]
rs38447	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs38448	0.91[ASN][1000 genomes]
rs38450	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs38451	0.88[ASN][1000 genomes]
rs38452	0.91[ASN][1000 genomes]
rs38453	0.88[ASN][1000 genomes]
rs38454	0.88[ASN][1000 genomes]
rs38455	0.86[ASN][1000 genomes]
rs38456	0.89[ASN][1000 genomes]
rs38458	0.89[ASN][1000 genomes]
rs38460	0.88[ASN][1000 genomes]
rs38461	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs38462	0.89[ASN][1000 genomes]
rs38463	0.88[ASN][1000 genomes]
rs38464	0.89[ASN][1000 genomes]
rs38465	0.87[ASN][1000 genomes]
rs38466	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs38467	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs38468	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs38469	0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs38471	0.82[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs38472	0.84[ASN][1000 genomes]
rs38473	0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs38474	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs38478	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs38480	0.82[ASN][1000 genomes]
rs38481	0.83[ASN][1000 genomes]
rs38483	0.83[ASN][1000 genomes]
rs39738	0.84[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs40237	0.99[ASN][1000 genomes]
rs4258	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4259	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs4260	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs38415	AC005154.6	cis	Nerve Tibial	GTEx
rs38415	AC005154.6	cis	lung	GTEx
rs38415	AC005154.8	cis	Whole Blood	GTEx
rs38415	LOC222159	Cis_1M	lymphoblastoid	RTeQTL
rs38415	AC005154.6	cis	Muscle Skeletal	GTEx
rs38415	AC005154.6	cis	Skin Sun Exposed Lower leg	GTEx
rs38415	AC005154.6	cis	Esophagus Muscularis	GTEx
rs38415	AC005154.6	cis	Thyroid	GTEx
rs38415	LOC401320	Cis_1M	lymphoblastoid	RTeQTL
rs38415	AC005154.6	cis	Adipose Subcutaneous	GTEx
rs38415	AC005154.6	cis	Stomach	GTEx
rs38415	AC005154.6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:30542400-30545600	Active TSS	NHLF	lung
2	chr7:30542800-30545200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:30543000-30544800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:30543000-30545200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:30543200-30544800	Active TSS	Fetal Intestine Small	intestine
6	chr7:30543200-30545000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:30543200-30545200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:30543200-30545200	Active TSS	HSMMtube	muscle
9	chr7:30543200-30545400	Active TSS	A549	lung
10	chr7:30543400-30544800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:30543400-30544800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:30543400-30544800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:30543400-30544800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:30543400-30544800	Active TSS	GM12878-XiMat	blood
15	chr7:30543400-30545000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:30543400-30545000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:30543400-30545200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:30543400-30545200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:30543400-30545200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:30543400-30545200	Active TSS	Esophagus	oesophagus
21	chr7:30543400-30545200	Active TSS	Fetal Brain Female	brain
22	chr7:30543400-30545200	Active TSS	Left Ventricle	heart
23	chr7:30543400-30545200	Active TSS	Lung	lung
24	chr7:30543400-30545200	Active TSS	Ovary	ovary
25	chr7:30543400-30545200	Active TSS	Psoas Muscle	Psoas
26	chr7:30543400-30545200	Active TSS	Right Atrium	heart
27	chr7:30543400-30545200	Active TSS	NHDF-Ad	bronchial
28	chr7:30543400-30545600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:30543600-30544800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:30543600-30544800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:30543600-30544800	Active TSS	Fetal Muscle Trunk	muscle
32	chr7:30543600-30545000	Active TSS	Pancreas	Pancrea
33	chr7:30543600-30545000	Active TSS	Placenta Amnion	Placenta Amnion
34	chr7:30543600-30545000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:30543600-30545000	Active TSS	Stomach Mucosa	stomach
36	chr7:30543600-30545200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:30543600-30545200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:30543600-30545200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr7:30543600-30545200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr7:30543600-30545200	Active TSS	Fetal Intestine Large	intestine
41	chr7:30543600-30545200	Active TSS	Fetal Kidney	kidney
42	chr7:30543600-30545200	Active TSS	Gastric	stomach
43	chr7:30543600-30545400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:30543600-30545400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:30543800-30544800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:30543800-30544800	Active TSS	Primary T cells from cord blood	blood
47	chr7:30543800-30544800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:30543800-30544800	Active TSS	Fetal Lung	lung
49	chr7:30543800-30544800	Active TSS	Fetal Thymus	thymus
50	chr7:30543800-30544800	Active TSS	Thymus	Thymus

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