Variant report

Variant	rs395601
Chromosome Location	chr15:59063196-59063197
allele	C/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	SIN3AK20	chr15:59063025-59063591	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:59062367-59063941	K562	blood:	n/a	n/a
3	SIN3A	chr15:59062738-59064694	H1-hESC	embryonic stem cell:	n/a	chr15:59063345-59063354 chr15:59063347-59063356
4	NFYB	chr15:59063093-59063541	K562	blood:	n/a	n/a
5	JUND	chr15:59063001-59063560	HepG2	liver:	n/a	n/a
6	TEAD4	chr15:59063052-59063685	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr15:59063071-59063873	HCT-116	colon:	n/a	n/a
8	RFX5	chr15:59062909-59063618	GM12878	blood:	n/a	n/a
9	ZNF263	chr15:59062933-59064648	HEK293-T-REx	kidney:	n/a	chr15:59064250-59064271
10	TBL1XR1	chr15:59062778-59063786	K562	blood:	n/a	n/a
11	PAX5	chr15:59063030-59063585	GM12878	blood:	n/a	chr15:59063441-59063450 chr15:59063437-59063446 chr15:59063439-59063448
12	RCOR1	chr15:59062569-59064546	K562	blood:	n/a	n/a
13	YY1	chr15:59063032-59064439	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:59062796-59063985	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr15:59062957-59063290	SK-N-SH	brain:	n/a	n/a
16	ZBTB33	chr15:59062911-59063688	A549	lung:	n/a	n/a
17	USF1	chr15:59063065-59063608	A549	lung:	n/a	n/a
18	KAP1	chr15:59062827-59063560	U2OS	brain:	n/a	n/a
19	E2F4	chr15:59063020-59064437	K562	blood:	n/a	chr15:59063434-59063448 chr15:59063577-59063586
20	TAF1	chr15:59062974-59063750	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:59062764-59064607	H1-neurons	neurons:	n/a	n/a
22	EBF1	chr15:59062721-59063609	GM12878	blood:	n/a	n/a
23	SP1	chr15:59062681-59063814	A549	lung:	n/a	chr15:59063577-59063586 chr15:59063284-59063294 chr15:59063284-59063294
24	MYC	chr15:59063074-59063557	HUVEC	blood vessel:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
25	POLR2A	chr15:59062992-59063760	A549	lung:	n/a	n/a
26	POLR2A	chr15:59062689-59063991	Hela-S3	cervix:	n/a	n/a
27	ELF1	chr15:59062965-59063807	GM12878	blood:	n/a	n/a
28	TBP	chr15:59062687-59063738	HepG2	liver:	n/a	n/a
29	REST	chr15:59062742-59063299	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr15:59062936-59063762	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr15:59062773-59063830	HL-60	blood:	n/a	n/a
32	TBP	chr15:59062591-59063687	Hela-S3	cervix:	n/a	n/a
33	NFE2	chr15:59063194-59063455	GM12878	blood:	n/a	chr15:59063344-59063353
34	CREB1	chr15:59062746-59064000	HepG2	liver:	n/a	n/a
35	USF1	chr15:59063026-59063602	A549	lung:	n/a	n/a
36	UBTF	chr15:59062570-59064626	K562	blood:	n/a	n/a
37	ELF1	chr15:59062903-59063746	MCF-7	breast:	n/a	n/a
38	SMARCB1	chr15:59062941-59064472	Hela-S3	cervix:	n/a	n/a
39	PBX3	chr15:59062919-59063832	A549	lung:	n/a	n/a
40	TAF7	chr15:59063028-59063738	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr15:59062616-59064449	H1-hESC	embryonic stem cell:	n/a	chr15:59063580-59063589
42	MAX	chr15:59063013-59063638	MCF-7	breast:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357
43	TFAP2C	chr15:59062696-59064580	Hela-S3	cervix:	n/a	chr15:59064224-59064239
44	USF2	chr15:59062930-59063564	GM12878	blood:	n/a	chr15:59063344-59063355
45	POLR2A	chr15:59062914-59063821	A549	lung:	n/a	n/a
46	SIN3AK20	chr15:59062572-59063627	A549	lung:	n/a	n/a
47	EP300	chr15:59062768-59063770	A549	lung:	n/a	chr15:59063205-59063212 chr15:59063488-59063504
48	POLR2A	chr15:59062955-59063747	HCT-116	colon:	n/a	n/a
49	CEBPB	chr15:59062711-59063600	Hela-S3	cervix:	n/a	n/a
50	MAX	chr15:59062652-59064516	Hela-S3	cervix:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59063176-59063226	HIPEpiC	eye:	n/a
2	chr15:59063195-59063245	HMEC	breast:	n/a
3	chr15:59063176-59063226	Hela-S3	cervix:	n/a
4	chr15:59063176-59063226	PANC-1	pancreas:	n/a
5	chr15:59063195-59063245	NH-A	brain:	n/a
6	chr15:59063176-59063226	RPTEC	kidney:	n/a
7	chr15:59063195-59063245	K562	blood:	n/a
8	chr15:59063176-59063226	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:59063176-59063226	SKMC	muscle:	n/a
10	chr15:59063176-59063226	A549	lung:	n/a
11	chr15:59063176-59063226	NH-A	brain:	n/a
12	chr15:59063176-59063226	GM12891	blood:	n/a
13	chr15:59063195-59063245	HIPEpiC	eye:	n/a
14	chr15:59063195-59063245	Jurkat	blood:	n/a
15	chr15:59063176-59063226	BE2_C	brain:	n/a
16	chr15:59063176-59063226	AoSMC	blood vessel:	n/a
17	chr15:59063176-59063226	Jurkat	blood:	n/a
18	chr15:59063176-59063226	ovcar-3	ovarian:	n/a
19	chr15:59063195-59063245	NHBE	bronchial:	n/a
20	chr15:59063195-59063245	Hela-S3	cervix:	n/a
21	chr15:59063195-59063245	SK-N-SH_RA	brain:	n/a
22	chr15:59063176-59063226	GM12892	blood:	n/a
23	chr15:59063195-59063245	LNCaP	prostate:	n/a
24	chr15:59063176-59063226	AG09309	skin:	n/a
25	chr15:59063195-59063245	ECC-1	luminal epithelium:	n/a
26	chr15:59063176-59063226	HL-60	blood:	n/a
27	chr15:59063195-59063245	GM12892	blood:	n/a
28	chr15:59063195-59063245	SK-N-MC	brain:	n/a
29	chr15:59063195-59063245	GM06990	blood:	n/a
30	chr15:59063195-59063245	HEEpiC	esophagus:	n/a
31	chr15:59063195-59063245	PANC-1	pancreas:	n/a
32	chr15:59063195-59063245	HCPEpiC	choroid plexus:	n/a
33	chr15:59063195-59063245	PrEC	prostate:	n/a
34	chr15:59063176-59063226	HRE	kidney:	n/a
35	chr15:59063195-59063245	HRCEpiC	kidney:	n/a
36	chr15:59063195-59063245	CMK	blood:	n/a
37	chr15:59063195-59063245	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:59063176-59063226	AG09319	gingival:	n/a
39	chr15:59063195-59063245	HAEpiC	amniotic membrane:	n/a
40	chr15:59063195-59063245	IMR90	lung:	fetal
41	chr15:59063195-59063245	U87	brain:	n/a
42	chr15:59063176-59063226	HMEC	breast:	n/a
43	chr15:59063195-59063245	AoSMC	blood vessel:	n/a
44	chr15:59063195-59063245	HCM	heart:	n/a
45	chr15:59063195-59063245	SK-N-SH	brain:	n/a
46	chr15:59063176-59063226	MCF10A-Er-Src	breast:	n/a
47	chr15:59063195-59063245	AG09319	gingival:	n/a
48	chr15:59063176-59063226	GM12878	blood:	n/a
49	chr15:59063176-59063226	NT2-D1	testis:	n/a
50	chr15:59063195-59063245	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59061870..59064465-chr15:59224425..59227494,5	K562	blood:
2	chr15:59062926..59063673-chr6:32811899..32812879,2	Hela-S3	cervix:
3	chr15:59061712..59064488-chr15:59178344..59181230,2	K562	blood:
4	chr15:59062674..59063207-chr17:73266545..73267157,2	Hela-S3	cervix:
5	chr15:59062962..59064061-chr17:73775541..73776117,3	Hela-S3	cervix:
6	chr15:59062739..59063485-chr8:104427097..104427711,2	Hela-S3	cervix:
7	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
8	chr15:59051351..59055079-chr15:59061641..59063693,4	K562	blood:
9	chr14:75642948..75643449-chr15:59063013..59063683,2	Hela-S3	cervix:
10	chr15:59062813..59063449-chr8:8085838..8086625,2	Hela-S3	cervix:
11	chr15:59052627..59055079-chr15:59061662..59063562,2	K562	blood:
12	chr15:59046301..59048650-chr15:59061431..59063279,4	K562	blood:
13	chr15:58549388..58551479-chr15:59062229..59064301,2	K562	blood:
14	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
15	chr15:59046301..59048650-chr15:59061431..59063261,2	K562	blood:
16	chr15:59062887..59063494-chr16:70557453..70557956,2	Hela-S3	cervix:
17	chr15:59061037..59064884-chr15:59224205..59227723,8	K562	blood:
18	chr15:59040618..59043171-chr15:59061931..59064461,2	MCF-7	breast:
19	chr15:59038832..59043387-chr15:59060936..59065101,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-1	chr15:59062265-59063262	NONHSAT044129

Variant related genes	Relation type
FAM63B	TF binding region
ENSG00000245975	TF binding region
FAM63B	CpG island
ENSG00000245975	CpG island
ENSG00000200318	Chromatin interaction
ENSG00000125457	Chromatin interaction
ENSG00000204261	Chromatin interaction
ENSG00000259173	Chromatin interaction
ENSG00000240065	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000128918	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000204264	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000170348	Chromatin interaction
ENSG00000173295	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11071398	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638244	1.00[CHB][hapmap]
rs11854073	0.81[CEU][hapmap]
rs12594872	1.00[CHB][hapmap]
rs12899638	0.88[CHB][hapmap]
rs12900643	0.88[CHB][hapmap]
rs1427282	1.00[CHB][hapmap]
rs1469343	1.00[CHB][hapmap]
rs1648532	0.83[AMR][1000 genomes]
rs17190727	0.83[AMR][1000 genomes]
rs2555357	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2604453	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs347115	0.81[AMR][1000 genomes]
rs347117	0.81[CEU][hapmap]
rs379879	0.85[EUR][1000 genomes]
rs383902	0.88[CEU][hapmap]
rs387812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411007	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs421829	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4275799	1.00[CHB][hapmap]
rs446126	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs452698	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs474875	0.81[CEU][hapmap]
rs4775087	0.81[CEU][hapmap]
rs4775094	0.81[CEU][hapmap]
rs514049	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6494029	1.00[CHB][hapmap]
rs673813	0.83[AMR][1000 genomes]
rs682619	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs688756	0.89[EUR][1000 genomes]
rs7166356	1.00[CHB][hapmap]
rs7168776	1.00[CHB][hapmap]
rs72745027	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8043406	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr15:59062200-59063200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:59062200-59063200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr15:59062200-59063200	Flanking Active TSS	NH-A	brain
4	chr15:59062200-59063400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:59062200-59063600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:59062200-59063600	Active TSS	HepG2	liver
7	chr15:59062200-59064400	Active TSS	Hela-S3	cervix
8	chr15:59062200-59064800	Active TSS	HMEC	breast
9	chr15:59062200-59065000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59062200-59065000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr15:59062200-59065000	Active TSS	K562	blood
12	chr15:59062200-59065400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:59062200-59066000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:59062200-59066000	Active TSS	NHLF	lung
15	chr15:59062200-59066200	Active TSS	HSMMtube	muscle
16	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
17	chr15:59062400-59063200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr15:59062400-59063200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr15:59062400-59063200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:59062400-59063200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr15:59062400-59063200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:59062400-59064200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr15:59062400-59064800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr15:59062400-59064800	Active TSS	Brain Substantia Nigra	brain
25	chr15:59062400-59065200	Active TSS	Brain Hippocampus Middle	brain
26	chr15:59062400-59065400	Active TSS	Brain Germinal Matrix	brain
27	chr15:59062400-59065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr15:59062400-59065800	Active TSS	Psoas Muscle	Psoas
29	chr15:59062400-59066000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:59062400-59066200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
32	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr15:59062400-59067400	Active TSS	Right Atrium	heart
34	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:59062600-59063200	Flanking Active TSS	Placenta	Placenta
36	chr15:59062600-59063200	Flanking Active TSS	Fetal Thymus	thymus
37	chr15:59062600-59063200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr15:59062600-59063200	Flanking Active TSS	Dnd41	blood
39	chr15:59062600-59063200	Flanking Active TSS	HUVEC	blood vessel
40	chr15:59062600-59063400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:59062600-59064200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:59062600-59064400	Active TSS	Pancreas	Pancrea
43	chr15:59062600-59064600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:59062600-59064600	Active TSS	Esophagus	oesophagus
45	chr15:59062600-59064600	Active TSS	Lung	lung
46	chr15:59062600-59064800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr15:59062600-59064800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:59062600-59064800	Active TSS	Fetal Muscle Trunk	muscle
49	chr15:59062600-59065000	Active TSS	Brain Anterior Caudate	brain
50	chr15:59062600-59065000	Active TSS	Stomach Mucosa	stomach

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