Variant report

Variant	rs7178130
Chromosome Location	chr15:72978202-72978203
allele	A/G
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	YY1	chr15:72978167-72978887	HepG2	liver:	n/a	chr15:72978283-72978297 chr15:72978875-72978883 chr15:72978558-72978578
2	POLR2A	chr15:72977861-72979012	K562	blood:	n/a	n/a
3	POLR2A	chr15:72977747-72978998	HEK293	kidney:	n/a	n/a
4	MAX	chr15:72978145-72978855	SK-N-SH	brain:	n/a	chr15:72978711-72978721
5	TAF1	chr15:72978023-72979015	K562	blood:	n/a	n/a
6	MXI1	chr15:72978070-72979102	HepG2	liver:	n/a	n/a
7	ELF1	chr15:72977877-72979260	MCF-7	breast:	n/a	chr15:72978502-72978511
8	GTF2F1	chr15:72978052-72979012	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIX5	chr15:72978030-72979465	A549	lung:	n/a	n/a
10	MAX	chr15:72978057-72979094	NB4	blood:	n/a	chr15:72978711-72978721
11	ELF1	chr15:72978075-72978825	A549	lung:	n/a	chr15:72978502-72978511
12	CHD1	chr15:72978057-72979015	GM12878	blood:	n/a	n/a
13	HDAC2	chr15:72978147-72979070	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:72978164-72978925	GM19193	blood:	n/a	n/a
15	HCFC1	chr15:72978086-72978817	K562	blood:	n/a	n/a
16	POLR2A	chr15:72977925-72978772	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:72978104-72978882	GM12878	blood:	n/a	n/a
18	GABPA	chr15:72977978-72979056	A549	lung:	n/a	chr15:72978711-72978720 chr15:72978504-72978511
19	TAF1	chr15:72977934-72979140	A549	lung:	n/a	n/a
20	POLR2A	chr15:72978108-72978946	GM18951	blood:	n/a	n/a
21	YY1	chr15:72978111-72979047	ECC-1	luminal epithelium:	n/a	chr15:72978283-72978297 chr15:72978875-72978883 chr15:72978558-72978578
22	TCF7L2	chr15:72978191-72979056	Hela-S3	cervix:	n/a	n/a
23	YY1	chr15:72978117-72979057	K562	blood:	n/a	chr15:72978283-72978297 chr15:72978875-72978883 chr15:72978558-72978578
24	TCF12	chr15:72978155-72978780	A549	lung:	n/a	n/a
25	REST	chr15:72977704-72979414	H1-neurons	neurons:	n/a	chr15:72977715-72977725
26	WRNIP1	chr15:72978028-72979111	GM12878	blood:	n/a	n/a
27	MAX	chr15:72978140-72978716	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:72978136-72978907	GM18526	blood:	n/a	n/a
29	ETS1	chr15:72978057-72978619	A549	lung:	n/a	chr15:72978533-72978543 chr15:72978535-72978544 chr15:72978535-72978544 chr15:72978534-72978547 chr15:72978501-72978510
30	RUNX3	chr15:72978011-72978834	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:72977891-72979174	SK-N-MC	brain:	n/a	n/a
32	GATA2	chr15:72977994-72979227	SH-SY5Y	brain:	n/a	chr15:72978214-72978227 chr15:72978097-72978113 chr15:72978100-72978109
33	MAZ	chr15:72977987-72979034	GM12878	blood:	n/a	chr15:72978711-72978721
34	CTCF	chr15:72978060-72978210	HMF	breast:	n/a	n/a
35	SIN3AK20	chr15:72977647-72979500	MCF-7	breast:	n/a	n/a
36	EP300	chr15:72978100-72979095	GM12878	blood:	n/a	chr15:72978540-72978556 chr15:72978536-72978543
37	MAX	chr15:72977990-72979175	A549	lung:	n/a	chr15:72978711-72978721
38	MYC	chr15:72978076-72978713	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr15:72978119-72978835	H1-hESC	embryonic stem cell:	n/a	chr15:72978283-72978297 chr15:72978558-72978578
40	POLR2A	chr15:72977937-72979067	HUVEC	blood vessel:	n/a	n/a
41	GABPA	chr15:72977917-72979053	A549	lung:	n/a	chr15:72978711-72978720 chr15:72978504-72978511
42	POLR2A	chr15:72978104-72978980	GM19099	blood:	n/a	n/a
43	EP300	chr15:72978108-72978593	H1-hESC	embryonic stem cell:	n/a	chr15:72978540-72978556 chr15:72978536-72978543
44	POLR2A	chr15:72977988-72979179	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr15:72978194-72978687	HepG2	liver:	n/a	chr15:72978504-72978511
46	CTCF	chr15:72978080-72978230	SK-N-SH_RA	brain:	n/a	n/a
47	MXI1	chr15:72977425-72979188	IMR90	lung:	n/a	n/a
48	POLR2A	chr15:72978121-72978873	GM12878	blood:	n/a	n/a
49	FOXA2	chr15:72977782-72978839	A549	lung:	n/a	n/a
50	POLR2A	chr15:72978181-72978307	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72978165-72978215	BE2_C	brain:	n/a
2	chr15:72978165-72978215	RPTEC	kidney:	n/a
3	chr15:72978165-72978215	AG04450	lung:	fetal
4	chr15:72978165-72978215	NT2-D1	testis:	n/a
5	chr15:72978165-72978215	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:72978165-72978215	SK-N-MC	brain:	n/a
7	chr15:72978165-72978215	GM12878	blood:	n/a
8	chr15:72978165-72978215	GM06990	blood:	n/a
9	chr15:72978165-72978215	K562	blood:	n/a
10	chr15:72978165-72978215	LNCaP	prostate:	n/a
11	chr15:72978165-72978215	HUVEC	blood vessel:	n/a
12	chr15:72978165-72978215	HRCEpiC	kidney:	n/a
13	chr15:72978165-72978215	MCF-7	breast:	n/a
14	chr15:72978165-72978215	SAEC	small airway:	n/a
15	chr15:72978165-72978215	CMK	blood:	n/a
16	chr15:72978165-72978215	NB4	blood:	n/a
17	chr15:72978165-72978215	HNPCEpiC	eye:	n/a
18	chr15:72978165-72978215	HAEpiC	amniotic membrane:	n/a
19	chr15:72978165-72978215	H1-hESC	embryonic stem cell:	embryo
20	chr15:72978165-72978215	PFSK-1	brain:	n/a
21	chr15:72978165-72978215	HCF	heart:	n/a
22	chr15:72978165-72978215	AoSMC	blood vessel:	n/a
23	chr15:72978165-72978215	T-47D	breast:	n/a
24	chr15:72978165-72978215	AG09319	gingival:	n/a
25	chr15:72978165-72978215	U87	brain:	n/a
26	chr15:72978165-72978215	HIPEpiC	eye:	n/a
27	chr15:72978165-72978215	HCPEpiC	choroid plexus:	n/a
28	chr15:72978165-72978215	HepG2	liver:	n/a
29	chr15:72978165-72978215	IMR90	lung:	fetal
30	chr15:72978165-72978215	MCF10A-Er-Src	breast:	n/a
31	chr15:72978165-72978215	HCT-116	colon:	n/a
32	chr15:72978165-72978215	AG10803	skin:	n/a
33	chr15:72978165-72978215	PANC-1	pancreas:	n/a
34	chr15:72978165-72978215	AG09309	skin:	n/a
35	chr15:72978165-72978215	ovcar-3	ovarian:	n/a
36	chr15:72978165-72978215	HL-60	blood:	n/a
37	chr15:72978165-72978215	ProgFib	skin:	n/a
38	chr15:72978165-72978215	Hepatocyte	liver:	n/a
39	chr15:72978165-72978215	Caco-2	colon:	n/a
40	chr15:72978165-72978215	Hela-S3	cervix:	n/a
41	chr15:72978165-72978215	NHDF-neo	bronchial:	n/a
42	chr15:72978165-72978215	BJ	skin:	n/a
43	chr15:72978165-72978215	A549	lung:	n/a
44	chr15:72978165-72978215	HRPEpiC	eye:	n/a
45	chr15:72978165-72978215	NHBE	bronchial:	n/a
46	chr15:72978165-72978215	HEEpiC	esophagus:	n/a
47	chr15:72978165-72978215	AG04449	skin:	fetal
48	chr15:72978165-72978215	ECC-1	luminal epithelium:	n/a
49	chr15:72978165-72978215	HMEC	breast:	n/a
50	chr15:72978165-72978215	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72977264..72978956-chr15:73075083..73076901,2	MCF-7	breast:
2	chr15:72971779..72975423-chr15:72976170..72980827,7	K562	blood:
3	chr15:72976932..72978751-chr15:73073825..73076141,2	MCF-7	breast:
4	chr15:72512307..72515184-chr15:72976836..72978920,2	MCF-7	breast:
5	chr15:72521683..72524680-chr15:72976957..72979803,2	K562	blood:
6	chr15:72973101..72975344-chr15:72976692..72980792,4	MCF-7	breast:
7	chr15:72562851..72564645-chr15:72977653..72979663,2	K562	blood:
8	chr15:72521996..72524543-chr15:72977386..72979463,3	MCF-7	breast:
9	chr1:153507658..153508549-chr15:72977999..72978681,2	Hela-S3	cervix:
10	chr15:72972671..72974749-chr15:72976443..72978214,2	K562	blood:
11	chr15:41055462..41056415-chr15:72977930..72978582,2	Hela-S3	cervix:
12	chr1:225965472..225966023-chr15:72978001..72978969,2	Hela-S3	cervix:
13	chr15:72977449..72978326-chrX:48659259..48660248,2	Hela-S3	cervix:
14	chr15:72764850..72767674-chr15:72977020..72979928,5	K562	blood:

Variant related genes	Relation type
ENSG00000261281	TF binding region
BBS4	TF binding region
BBS4	CpG island
ENSG00000261281	CpG island
ENSG00000067225	Chromatin interaction
ENSG00000261281	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000094631	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000260898	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000159322	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459647	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11072385	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11631214	0.81[EUR][1000 genomes]
rs11631352	0.85[CEU][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap]
rs2277598	0.83[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2304597	0.95[CEU][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34661924	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4776614	0.85[JPT][hapmap]
rs4777532	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4777534	0.84[GIH][hapmap];0.92[JPT][hapmap]
rs55914134	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62017600	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6495015	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7167076	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7171728	0.92[JPT][hapmap]
rs7176223	0.94[CEU][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7176235	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8024986	0.95[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8025333	0.94[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8027181	0.92[JPT][hapmap]
rs8030477	0.85[JPT][hapmap]
rs8031455	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8033073	0.95[CEU][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes]
rs8033580	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9460	0.83[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs998020	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2763105	chr15:72975344-72978616	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 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	chr15:72977400-72978400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:72977400-72978400	Flanking Active TSS	Dnd41	blood
3	chr15:72977400-72979400	Active TSS	GM12878-XiMat	blood
4	chr15:72977400-72979600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:72977400-72979600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:72977400-72979800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:72977400-72980000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:72977400-72980200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:72977600-72978400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:72977600-72978400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr15:72977600-72978400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:72977600-72978400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:72977600-72978400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:72977600-72978400	Flanking Active TSS	HUVEC	blood vessel
15	chr15:72977600-72978400	Flanking Active TSS	Osteobl	bone
16	chr15:72977600-72979400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr15:72977600-72979400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:72977600-72979400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:72977600-72979600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr15:72977600-72979600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:72977600-72979800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:72977600-72979800	Active TSS	Fetal Intestine Large	intestine
23	chr15:72977600-72979800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:72977600-72979800	Active TSS	Thymus	Thymus
25	chr15:72977800-72978400	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr15:72977800-72978400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:72977800-72978400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:72977800-72978400	Flanking Active TSS	Fetal Brain Male	brain
29	chr15:72977800-72978400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr15:72977800-72978400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr15:72977800-72978800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:72977800-72979000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr15:72977800-72979200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:72977800-72979200	Active TSS	Esophagus	oesophagus
35	chr15:72977800-72979200	Active TSS	Gastric	stomach
36	chr15:72977800-72979200	Active TSS	Pancreas	Pancrea
37	chr15:72977800-72979200	Active TSS	Small Intestine	intestine
38	chr15:72977800-72979400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:72977800-72979400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:72977800-72979400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:72977800-72979400	Active TSS	Brain Anterior Caudate	brain
42	chr15:72977800-72979400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr15:72977800-72979400	Active TSS	Brain Substantia Nigra	brain
44	chr15:72977800-72979400	Active TSS	Fetal Muscle Trunk	muscle
45	chr15:72977800-72979400	Active TSS	Stomach Mucosa	stomach
46	chr15:72977800-72979600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:72977800-72979600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:72977800-72979600	Active TSS	Fetal Kidney	kidney
49	chr15:72977800-72979600	Active TSS	Psoas Muscle	Psoas
50	chr15:72977800-72979600	Active TSS	Sigmoid Colon	Sigmoid Colon

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