Variant report

Variant	rs74012264
Chromosome Location	chr15:41624622-41624623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:447)
CpG islands
(count:122)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:447 , 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	RAD21	chr15:41624154-41624725	IMR90	lung:	n/a	chr15:41624358-41624377
2	POLR2A	chr15:41624299-41625433	Gliobla	brain:	n/a	n/a
3	TAF1	chr15:41624205-41625320	PFSK-1	brain:	n/a	n/a
4	SETDB1	chr15:41624479-41625409	U2OS	brain:	n/a	n/a
5	TAF1	chr15:41624593-41624832	A549	lung:	n/a	n/a
6	HA-E2F1	chr15:41624464-41625423	Hela-S3	cervix:	n/a	chr15:41624795-41624805 chr15:41625277-41625286 chr15:41624934-41624951 chr15:41624933-41624947 chr15:41624905-41624912 chr15:41624766-41624776 chr15:41624904-41624915 chr15:41624909-41624918
7	NRF1	chr15:41624348-41625415	GM12878	blood:	n/a	chr15:41624908-41624919 chr15:41624907-41624918 chr15:41625277-41625286
8	ZC3H11A	chr15:41624342-41625269	K562	blood:	n/a	n/a
9	EP300	chr15:41624164-41625632	K562	blood:	n/a	chr15:41625277-41625286
10	SIN3AK20	chr15:41624124-41624824	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:41624357-41625641	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr15:41624027-41625733	HCT-116	colon:	n/a	n/a
13	TBP	chr15:41624253-41625773	GM12878	blood:	n/a	n/a
14	CCNT2	chr15:41624308-41625720	K562	blood:	n/a	n/a
15	HDAC2	chr15:41624193-41624862	HepG2	liver:	n/a	n/a
16	E2F1	chr15:41624599-41625468	Hela-S3	cervix:	n/a	chr15:41624795-41624805 chr15:41625277-41625286 chr15:41624934-41624951 chr15:41624933-41624947 chr15:41624905-41624912 chr15:41624766-41624776 chr15:41624904-41624915 chr15:41624909-41624918
17	POLR2A	chr15:41624151-41625472	K562	blood:	n/a	n/a
18	SIN3AK20	chr15:41623952-41625782	MCF-7	breast:	n/a	n/a
19	POLR2A	chr15:41624299-41625485	K562	blood:	n/a	n/a
20	BHLHE40	chr15:41624338-41625258	K562	blood:	n/a	n/a
21	POLR2A	chr15:41624298-41625587	NB4	blood:	n/a	n/a
22	CTCF	chr15:41624136-41624786	K562	blood:	n/a	chr15:41624348-41624357 chr15:41624362-41624375 chr15:41624360-41624378 chr15:41624362-41624375
23	ZBTB33	chr15:41624529-41625296	HCT-116	colon:	n/a	n/a
24	NR2F2	chr15:41624286-41625798	K562	blood:	n/a	n/a
25	SIN3AK20	chr15:41624188-41624883	K562	blood:	n/a	n/a
26	NRF1	chr15:41624355-41625184	H1-hESC	embryonic stem cell:	n/a	chr15:41624908-41624919 chr15:41624907-41624918
27	ELF1	chr15:41624328-41625571	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:41624124-41625588	K562	blood:	n/a	n/a
29	POLR2A	chr15:41624275-41625438	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr15:41624391-41625248	HepG2	liver:	n/a	n/a
31	CEBPB	chr15:41624622-41624786	HepG2	liver:	n/a	chr15:41624717-41624728
32	POLR2A	chr15:41624146-41626151	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr15:41624153-41624639	SK-N-SH_RA	brain:	n/a	chr15:41624358-41624377
34	CTCF	chr15:41624277-41624648	GM13977	blood:	n/a	chr15:41624348-41624357 chr15:41624362-41624375 chr15:41624360-41624378 chr15:41624362-41624375
35	TAF7	chr15:41624240-41625476	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP4	chr15:41624256-41624977	H1-hESC	embryonic stem cell:	n/a	chr15:41624796-41624812
37	FOXM1	chr15:41624422-41625826	GM12878	blood:	n/a	n/a
38	JUN	chr15:41624415-41625283	K562	blood:	n/a	n/a
39	CEBPB	chr15:41624239-41625822	Hela-S3	cervix:	n/a	chr15:41625550-41625567 chr15:41624717-41624728
40	TBP	chr15:41624245-41625536	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr15:41624260-41625778	GM12878	blood:	n/a	n/a
42	TAF1	chr15:41624294-41625429	GM12878	blood:	n/a	n/a
43	CTCF	chr15:41624262-41624690	H1-hESC	embryonic stem cell:	n/a	chr15:41624348-41624357 chr15:41624362-41624375 chr15:41624360-41624378 chr15:41624362-41624375
44	POLR2A	chr15:41624266-41625550	GM12878	blood:	n/a	n/a
45	MTA3	chr15:41624260-41624863	GM12878	blood:	n/a	n/a
46	PML	chr15:41624221-41625628	K562	blood:	n/a	n/a
47	TCF12	chr15:41624177-41625679	ECC-1	luminal epithelium:	n/a	n/a
48	ZNF143	chr15:41624237-41625226	K562	blood:	n/a	n/a
49	MYC	chr15:41624481-41625407	K562	blood:	n/a	n/a
50	JUND	chr15:41624534-41624940	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41624609-41624659	AG09319	gingival:	n/a
2	chr15:41624616-41624666	AG09319	gingival:	n/a
3	chr15:41624609-41624659	AoSMC	blood vessel:	n/a
4	chr15:41624616-41624666	NHDF-neo	bronchial:	n/a
5	chr15:41624609-41624659	HEK293	kidney:	embryo
6	chr15:41624609-41624659	HRCEpiC	kidney:	n/a
7	chr15:41624609-41624659	AG04450	lung:	fetal
8	chr15:41624616-41624666	LNCaP	prostate:	n/a
9	chr15:41624609-41624659	RPTEC	kidney:	n/a
10	chr15:41624609-41624659	Caco-2	colon:	n/a
11	chr15:41624609-41624659	MCF10A-Er-Src	breast:	n/a
12	chr15:41624616-41624666	HMEC	breast:	n/a
13	chr15:41624616-41624666	AG04449	skin:	fetal
14	chr15:41624609-41624659	PANC-1	pancreas:	n/a
15	chr15:41624609-41624659	SK-N-SH_RA	brain:	n/a
16	chr15:41624616-41624666	A549	lung:	n/a
17	chr15:41624609-41624659	PFSK-1	brain:	n/a
18	chr15:41624609-41624659	SK-N-MC	brain:	n/a
19	chr15:41624609-41624659	IMR90	lung:	fetal
20	chr15:41624616-41624666	SAEC	small airway:	n/a
21	chr15:41624616-41624666	HCF	heart:	n/a
22	chr15:41624609-41624659	AG09309	skin:	n/a
23	chr15:41624616-41624666	HAEpiC	amniotic membrane:	n/a
24	chr15:41624609-41624659	NHDF-neo	bronchial:	n/a
25	chr15:41624609-41624659	SK-N-SH	brain:	n/a
26	chr15:41624609-41624659	ProgFib	skin:	n/a
27	chr15:41624609-41624659	HRPEpiC	eye:	n/a
28	chr15:41624616-41624666	NB4	blood:	n/a
29	chr15:41624609-41624659	GM19239	blood:	n/a
30	chr15:41624616-41624666	NT2-D1	testis:	n/a
31	chr15:41624609-41624659	HNPCEpiC	eye:	n/a
32	chr15:41624616-41624666	HL-60	blood:	n/a
33	chr15:41624616-41624666	CMK	blood:	n/a
34	chr15:41624616-41624666	ECC-1	luminal epithelium:	n/a
35	chr15:41624616-41624666	HCT-116	colon:	n/a
36	chr15:41624609-41624659	Jurkat	blood:	n/a
37	chr15:41624616-41624666	Caco-2	colon:	n/a
38	chr15:41624616-41624666	PrEC	prostate:	n/a
39	chr15:41624616-41624666	ovcar-3	ovarian:	n/a
40	chr15:41624616-41624666	SK-N-SH_RA	brain:	n/a
41	chr15:41624616-41624666	HepG2	liver:	n/a
42	chr15:41624609-41624659	NHBE	bronchial:	n/a
43	chr15:41624609-41624659	H1-hESC	embryonic stem cell:	embryo
44	chr15:41624616-41624666	PFSK-1	brain:	n/a
45	chr15:41624616-41624666	Jurkat	blood:	n/a
46	chr15:41624616-41624666	HCM	heart:	n/a
47	chr15:41624616-41624666	MCF-7	breast:	n/a
48	chr15:41624616-41624666	HEK293	kidney:	embryo
49	chr15:41624616-41624666	HRPEpiC	eye:	n/a
50	chr15:41624609-41624659	SAEC	small airway:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41624281..41625198-chr19:3093881..3094809,2	Hela-S3	cervix:
2	chr15:41624600..41625116-chr19:49141138..49142047,2	NB4	blood:
3	chr15:41523451..41525633-chr15:41623235..41625068,3	K562	blood:
4	chr15:41406745..41409392-chr15:41623521..41626579,5	K562	blood:
5	chr15:41575391..41577503-chr15:41623750..41625308,2	MCF-7	breast:
6	chr15:41624298..41625165-chr19:5790834..5791761,2	NB4	blood:
7	chr15:41624298..41625139-chr16:30388538..30389381,2	NB4	blood:
8	chr15:41573497..41577986-chr15:41624362..41627823,9	K562	blood:
9	chr15:41623748..41626097-chr15:41632335..41635242,3	K562	blood:
10	chr15:41624548..41625512-chr2:88927297..88927982,3	Hela-S3	cervix:
11	chr14:23564493..23565221-chr15:41624589..41625558,2	Hela-S3	cervix:
12	chr15:41624471..41625190-chr3:156878541..156879113,2	Hela-S3	cervix:
13	chr15:41624382..41626552-chr15:41708725..41711080,3	K562	blood:
14	chr15:41624332..41625450-chr7:139044081..139045186,3	Hela-S3	cervix:
15	chr15:41624531..41625112-chr5:38556858..38557449,2	Hela-S3	cervix:
16	chr15:41575115..41577125-chr15:41624466..41626801,3	MCF-7	breast:
17	chr15:41621801..41625398-chr15:41692470..41696241,5	K562	blood:
18	chr15:41623948..41624674-chr19:32896567..32897235,2	NB4	blood:
19	chr15:41624254..41626833-chr15:41952098..41954867,2	K562	blood:
20	chr15:41624232..41625170-chr15:65588350..65588963,2	Hela-S3	cervix:
21	chr15:41406809..41409126-chr15:41623521..41625356,3	K562	blood:
22	chr15:41624593..41625341-chr3:33482560..33483091,2	NB4	blood:
23	chr15:41407574..41409310-chr15:41622908..41625714,2	MCF-7	breast:
24	chr15:41575029..41577348-chr15:41624329..41626974,5	K562	blood:
25	chr15:41624460..41625122-chr2:28974191..28974875,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
NUSAP1	TF binding region
NUSAP1	CpG island
ENSG00000178904	Chromatin interaction
ENSG00000100813	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000174197	Chromatin interaction
ENSG00000137806	Chromatin interaction
ENSG00000088256	Chromatin interaction
ENSG00000063180	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000232871	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000234028	Chromatin interaction
ENSG00000213639	Chromatin interaction
ENSG00000179933	Chromatin interaction
ENSG00000141994	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000244968	Chromatin interaction
ENSG00000146963	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2918464	1.00[AMR][1000 genomes]
rs2947487	1.00[AMR][1000 genomes]
rs2947490	1.00[AMR][1000 genomes]
rs36124939	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55838056	1.00[AMR][1000 genomes]
rs56140669	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56687496	1.00[AMR][1000 genomes]
rs57958502	1.00[AMR][1000 genomes]
rs58165973	1.00[AMR][1000 genomes]
rs58218403	1.00[AMR][1000 genomes]
rs59034095	1.00[AMR][1000 genomes]
rs59073406	1.00[AMR][1000 genomes]
rs59343255	1.00[AMR][1000 genomes]
rs59659337	1.00[AMR][1000 genomes]
rs59850482	1.00[AMR][1000 genomes]
rs61602493	1.00[AMR][1000 genomes]
rs692377	1.00[AMR][1000 genomes]
rs7168916	1.00[AMR][1000 genomes]
rs7172892	1.00[AMR][1000 genomes]
rs74012258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012259	1.00[AMR][1000 genomes]
rs74012263	1.00[AMR][1000 genomes]
rs8025218	1.00[AMR][1000 genomes]
rs8029815	1.00[AMR][1000 genomes]
rs8032010	1.00[AMR][1000 genomes]
rs8032335	1.00[AMR][1000 genomes]
rs8035341	1.00[AMR][1000 genomes]
rs8038086	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038185	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041170	1.00[AMR][1000 genomes]
rs9745301	1.00[AMR][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	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv977843	chr15:41608625-41625613	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
5	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 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	chr15:41623000-41626800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:41623000-41627200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:41623000-41627200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:41623000-41627200	Active TSS	A549	lung
5	chr15:41623000-41627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:41623400-41627000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:41623400-41627200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:41623400-41627200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr15:41623400-41627400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:41623600-41626800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:41623600-41626800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:41623600-41626800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:41623600-41627000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:41623600-41627000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:41623600-41627200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr15:41623600-41627200	Active TSS	Thymus	Thymus
17	chr15:41623600-41627200	Active TSS	Hela-S3	cervix
18	chr15:41623800-41625400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:41623800-41625400	Active TSS	Fetal Brain Male	brain
20	chr15:41623800-41625800	Active TSS	Fetal Muscle Trunk	muscle
21	chr15:41623800-41626200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:41623800-41626200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:41623800-41626400	Active TSS	Osteobl	bone
24	chr15:41623800-41626600	Active TSS	Fetal Thymus	thymus
25	chr15:41623800-41626800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:41623800-41627200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:41623800-41627200	Active TSS	NHDF-Ad	bronchial
28	chr15:41623800-41627400	Active TSS	GM12878-XiMat	blood
29	chr15:41623800-41627400	Active TSS	K562	blood
30	chr15:41624000-41624800	Flanking Active TSS	Liver	Liver
31	chr15:41624000-41625200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:41624000-41625200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr15:41624000-41625600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr15:41624000-41625600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:41624000-41625600	Active TSS	Psoas Muscle	Psoas
36	chr15:41624000-41625800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:41624000-41625800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr15:41624000-41625800	Active TSS	Ovary	ovary
39	chr15:41624000-41625800	Active TSS	Right Ventricle	heart
40	chr15:41624000-41625800	Bivalent/Poised TSS	HepG2	liver
41	chr15:41624000-41626000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:41624000-41626000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:41624000-41626000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:41624000-41626200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:41624000-41626200	Active TSS	Esophagus	oesophagus
46	chr15:41624000-41626200	Active TSS	HMEC	breast
47	chr15:41624000-41626600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:41624000-41626600	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr15:41624000-41626600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:41624000-41626600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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