Variant report

Variant	rs2241769
Chromosome Location	chr15:50716633-50716634
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	POLR2A	chr15:50716025-50717003	HL-60	blood:	n/a	n/a
2	MAFK	chr15:50716234-50717079	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr15:50716326-50716780	K562	blood:	n/a	n/a
4	SIN3AK20	chr15:50716473-50716784	PANC-1	pancreas:	n/a	n/a
5	THAP1	chr15:50716485-50716671	K562	blood:	n/a	n/a
6	POLR2A	chr15:50716016-50716920	HCT-116	colon:	n/a	n/a
7	POLR2A	chr15:50716181-50716854	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr15:50716262-50716971	ECC-1	luminal epithelium:	n/a	n/a
9	TAF7	chr15:50716120-50716939	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr15:50716213-50716811	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPD	chr15:50716182-50716837	HepG2	liver:	n/a	n/a
12	ELF1	chr15:50716144-50716807	HepG2	liver:	n/a	chr15:50716333-50716344 chr15:50716333-50716344 chr15:50716334-50716343 chr15:50716533-50716545
13	FOXP2	chr15:50716253-50716761	SK-N-MC	brain:	n/a	n/a
14	YY1	chr15:50716203-50716911	K562	blood:	n/a	chr15:50716467-50716476
15	TEAD4	chr15:50716026-50717119	K562	blood:	n/a	n/a
16	POLR2A	chr15:50716018-50716937	ECC-1	luminal epithelium:	n/a	n/a
17	MXI1	chr15:50716142-50716985	Hela-S3	cervix:	n/a	n/a
18	USF2	chr15:50716231-50716850	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr15:50716259-50716822	MCF-7	breast:	n/a	n/a
20	KAP1	chr15:50716124-50716671	U2OS	brain:	n/a	chr15:50716396-50716404
21	HEY1	chr15:50715500-50717035	HepG2	liver:	n/a	n/a
22	TAF1	chr15:50716209-50716850	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:50715922-50717154	K562	blood:	n/a	n/a
24	SIN3AK20	chr15:50716224-50716959	PANC-1	pancreas:	n/a	n/a
25	TCF12	chr15:50716108-50717097	ECC-1	luminal epithelium:	n/a	n/a
26	SP1	chr15:50715885-50717015	A549	lung:	n/a	chr15:50716534-50716543 chr15:50716532-50716544 chr15:50716486-50716497 chr15:50716532-50716544 chr15:50716533-50716542 chr15:50716533-50716542 chr15:50716533-50716543 chr15:50716533-50716543 chr15:50716402-50716411
27	BCLAF1	chr15:50716120-50717068	GM12878	blood:	n/a	n/a
28	MAZ	chr15:50716155-50716743	HepG2	liver:	n/a	n/a
29	CHD2	chr15:50716194-50716863	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr15:50716205-50716715	HepG2	liver:	n/a	n/a
31	SRF	chr15:50715921-50717167	MCF-7	breast:	n/a	n/a
32	RAD21	chr15:50716339-50716871	HepG2	liver:	n/a	n/a
33	POLR2A	chr15:50716017-50716888	HUVEC	blood vessel:	n/a	n/a
34	TCF12	chr15:50716199-50716859	GM12878	blood:	n/a	n/a
35	MBD4	chr15:50716039-50716724	HepG2	liver:	n/a	n/a
36	ZNF143	chr15:50716188-50717105	GM12878	blood:	n/a	n/a
37	PML	chr15:50715921-50717095	K562	blood:	n/a	chr15:50716396-50716404
38	ELF1	chr15:50716129-50716818	HepG2	liver:	n/a	chr15:50716333-50716344 chr15:50716333-50716344 chr15:50716334-50716343 chr15:50716533-50716545
39	MTA3	chr15:50716500-50716991	GM12878	blood:	n/a	n/a
40	HDAC2	chr15:50716069-50717061	MCF-7	breast:	n/a	chr15:50717024-50717038 chr15:50717025-50717039
41	ATF2	chr15:50716096-50717066	GM12878	blood:	n/a	chr15:50716544-50716558
42	POLR2A	chr15:50715961-50717035	U87	brain:	n/a	n/a
43	NFYB	chr15:50716349-50716714	Hela-S3	cervix:	n/a	n/a
44	PML	chr15:50715965-50717225	GM12878	blood:	n/a	chr15:50716396-50716404
45	MAX	chr15:50716024-50717248	MCF-7	breast:	n/a	n/a
46	YY1	chr15:50716215-50716891	K562	blood:	n/a	chr15:50716467-50716476
47	FOXA1	chr15:50716225-50716771	T-47D	breast:	n/a	n/a
48	SRF	chr15:50716140-50716843	ECC-1	luminal epithelium:	n/a	n/a
49	POU2F2	chr15:50716195-50716891	GM12891	blood:	n/a	chr15:50716533-50716545 chr15:50716580-50716587 chr15:50716576-50716590 chr15:50716579-50716588 chr15:50716579-50716589
50	MAZ	chr15:50716154-50716985	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50716131..50716738-chr16:14726526..14727321,2	Hela-S3	cervix:
3	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
4	chr15:50716013..50716782-chr2:62932559..62933379,2	HCT-116	colon:
5	chr15:50715051..50716792-chr15:51200047..51202504,2	MCF-7	breast:
6	chr15:50716294..50716888-chr6:30584549..30585049,2	Hela-S3	cervix:
7	chr11:67777387..67778242-chr15:50716543..50717165,2	Hela-S3	cervix:
8	chr15:50714855..50718759-chr15:50728296..50731650,9	MCF-7	breast:
9	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
10	chr15:50716373..50717091-chr5:36606437..36607181,2	Hela-S3	cervix:
11	chr1:45265977..45266790-chr15:50715807..50716660,2	NB4	blood:
12	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:
13	chr15:50647576..50648414-chr15:50716378..50717277,2	MCF-7	breast:
14	chr15:50715057..50718112-chr15:51199966..51202837,4	MCF-7	breast:
15	chr1:28975106..28975629-chr15:50716252..50717084,2	Hela-S3	cervix:
16	chr15:50714595..50716933-chr2:234599004..234601578,2	MCF-7	breast:
17	chr15:50716002..50716835-chr5:172755036..172755997,2	HCT-116	colon:
18	chr10:99496501..99497182-chr15:50716076..50716847,2	Hela-S3	cervix:
19	chr13:111366707..111367602-chr15:50715895..50716764,2	NB4	blood:
20	chr15:50716224..50718029-chr15:52121423..52123385,2	MCF-7	breast:

Variant related genes	Relation type
USP8	TF binding region
ENSG00000006534	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000103429	Chromatin interaction
ENSG00000081014	Chromatin interaction
ENSG00000079215	Chromatin interaction
ENSG00000259715	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000140694	Chromatin interaction
ENSG00000264109	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000115504	Chromatin interaction
ENSG00000270103	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12591094	0.87[ASN][1000 genomes]
rs16963724	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[YRI][hapmap]
rs16963752	1.00[YRI][hapmap]
rs2414074	0.85[CEU][hapmap]
rs28376390	0.82[AFR][1000 genomes]
rs3098168	0.88[CHB][hapmap]
rs3098172	0.84[ASN][1000 genomes]
rs3098174	0.87[CHB][hapmap]
rs3098204	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131562	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs3131564	0.84[ASN][1000 genomes]
rs3131565	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131567	0.88[CHB][hapmap]
rs3131571	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131572	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131575	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3131583	0.90[CEU][hapmap]
rs3131612	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3131613	0.95[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3848128	0.90[CEU][hapmap]
rs4318151	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs55982633	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59820977	0.85[ASN][1000 genomes]
rs62016946	0.98[ASN][1000 genomes]
rs7182407	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription 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	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 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	chr15:50715600-50716800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr15:50715600-50717200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:50715600-50717200	Active TSS	Duodenum Mucosa	Duodenum
4	chr15:50715600-50717200	Active TSS	Stomach Smooth Muscle	stomach
5	chr15:50715600-50717400	Active TSS	NH-A	brain
6	chr15:50715600-50717400	Active TSS	NHEK	skin
7	chr15:50715600-50717600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:50715600-50718000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:50715600-50718400	Active TSS	Hela-S3	cervix
10	chr15:50715800-50716800	Active TSS	HepG2	liver
11	chr15:50715800-50717000	Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr15:50715800-50717000	Active TSS	Liver	Liver
13	chr15:50715800-50717200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:50715800-50717200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:50715800-50717200	Active TSS	Brain Angular Gyrus	brain
16	chr15:50715800-50717200	Active TSS	Brain Hippocampus Middle	brain
17	chr15:50715800-50717200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:50715800-50717200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr15:50715800-50717200	Active TSS	Rectal Smooth Muscle	rectum
20	chr15:50715800-50717400	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr15:50715800-50717400	Active TSS	Brain Anterior Caudate	brain
22	chr15:50715800-50717400	Active TSS	Brain Cingulate Gyrus	brain
23	chr15:50715800-50717400	Active TSS	Colon Smooth Muscle	Colon
24	chr15:50715800-50717400	Active TSS	Fetal Brain Female	brain
25	chr15:50715800-50717400	Active TSS	Thymus	Thymus
26	chr15:50715800-50717600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:50715800-50717600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:50715800-50717600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:50715800-50717800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:50715800-50717800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr15:50715800-50717800	Active TSS	HSMM	muscle
32	chr15:50715800-50717800	Active TSS	HSMMtube	muscle
33	chr15:50715800-50718000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr15:50715800-50718000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr15:50715800-50718200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr15:50715800-50718200	Active TSS	Colonic Mucosa	Colon
37	chr15:50715800-50718200	Active TSS	Right Atrium	heart
38	chr15:50715800-50718400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:50715800-50718400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:50715800-50718400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:50716000-50716800	Active TSS	Primary hematopoietic stem cells	blood
42	chr15:50716000-50716800	Active TSS	Fetal Brain Male	brain
43	chr15:50716000-50717000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr15:50716000-50717200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:50716000-50717200	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr15:50716000-50717200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr15:50716000-50717200	Active TSS	Fetal Heart	heart
48	chr15:50716000-50717200	Active TSS	Fetal Stomach	stomach
49	chr15:50716000-50717200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr15:50716000-50717200	Active TSS	HUVEC	blood vessel

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