Variant report

Variant	rs17509944
Chromosome Location	chr15:50717609-50717610
allele	G/T
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	chr15:50715425-50717621	GM12891	blood:	n/a	n/a
2	MAFK	chr15:50717432-50717796	IMR90	lung:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
3	ELF1	chr15:50715494-50717916	MCF-7	breast:	n/a	chr15:50716333-50716344 chr15:50716333-50716344 chr15:50717174-50717185 chr15:50717015-50717026 chr15:50716334-50716343 chr15:50716533-50716545 chr15:50717016-50717025 chr15:50717015-50717026
4	POLR2A	chr15:50715954-50717759	IMR90	lung:	n/a	n/a
5	MAFK	chr15:50717457-50717799	K562	blood:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
6	SIN3A	chr15:50716142-50717621	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr15:50717432-50717795	HepG2	liver:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
8	MAFF	chr15:50717433-50717797	HepG2	liver:	n/a	chr15:50717613-50717631
9	WRNIP1	chr15:50716194-50717785	GM12878	blood:	n/a	n/a
10	MAFK	chr15:50717290-50717794	HepG2	liver:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
11	HCFC1	chr15:50716003-50717764	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr15:50717324-50717831	Hela-S3	cervix:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
13	POLR2A	chr15:50717158-50717729	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr15:50715727-50717907	MCF-7	breast:	n/a	n/a
15	POLR2A	chr15:50715482-50717811	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr15:50717466-50717758	H1-hESC	embryonic stem cell:	n/a	chr15:50717614-50717630 chr15:50717614-50717629
17	MXI1	chr15:50716130-50717653	IMR90	lung:	n/a	n/a
18	MAFF	chr15:50717470-50717772	K562	blood:	n/a	chr15:50717613-50717631
19	POLR2A	chr15:50715512-50717738	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:50717365-50717747	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
3	chr15:50714855..50718759-chr15:50728296..50731650,9	MCF-7	breast:
4	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
5	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:
6	chr15:50715057..50718112-chr15:51199966..51202837,4	MCF-7	breast:
7	chr15:50716224..50718029-chr15:52121423..52123385,2	MCF-7	breast:

Variant related genes	Relation type
USP8	TF binding region
ENSG00000259715	Chromatin interaction
ENSG00000264109	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1050571	1.00[CHB][hapmap]
rs10518836	1.00[ASW][hapmap]
rs11070768	1.00[JPT][hapmap]
rs11631197	1.00[JPT][hapmap]
rs11632703	1.00[JPT][hapmap]
rs11636564	1.00[JPT][hapmap]
rs11636908	1.00[JPT][hapmap]
rs11638432	1.00[JPT][hapmap]
rs11639406	1.00[JPT][hapmap]
rs11852487	1.00[JPT][hapmap]
rs11855823	1.00[JPT][hapmap]
rs11856059	1.00[CHB][hapmap]
rs12902318	1.00[JPT][hapmap]
rs12906304	1.00[JPT][hapmap]
rs12908591	1.00[JPT][hapmap]
rs12910368	1.00[JPT][hapmap]
rs12923	1.00[JPT][hapmap]
rs1645	1.00[JPT][hapmap]
rs16963604	1.00[JPT][hapmap]
rs17416784	1.00[CHB][hapmap]
rs17508371	1.00[JPT][hapmap]
rs17740607	1.00[ASW][hapmap]
rs17740669	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs2033115	1.00[JPT][hapmap]
rs2081628	1.00[JPT][hapmap]
rs2414074	1.00[ASW][hapmap]
rs3131583	1.00[ASW][hapmap]
rs4775872	1.00[JPT][hapmap]
rs4775873	1.00[JPT][hapmap]
rs4775874	1.00[JPT][hapmap]
rs4775876	1.00[JPT][hapmap]
rs526045	1.00[JPT][hapmap]
rs526952	1.00[JPT][hapmap]
rs6493429	1.00[JPT][hapmap]
rs7163457	1.00[JPT][hapmap]
rs7164798	1.00[JPT][hapmap]
rs7173127	1.00[JPT][hapmap]
rs7175150	1.00[JPT][hapmap]
rs8024514	1.00[JPT][hapmap]
rs8036354	1.00[JPT][hapmap]

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	chr15:50715600-50718000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr15:50715600-50718400	Active TSS	Hela-S3	cervix
3	chr15:50715800-50717800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:50715800-50717800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:50715800-50717800	Active TSS	HSMM	muscle
6	chr15:50715800-50717800	Active TSS	HSMMtube	muscle
7	chr15:50715800-50718000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:50715800-50718000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:50715800-50718200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:50715800-50718200	Active TSS	Colonic Mucosa	Colon
11	chr15:50715800-50718200	Active TSS	Right Atrium	heart
12	chr15:50715800-50718400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:50715800-50718400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:50715800-50718400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:50716000-50717800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr15:50716000-50717800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:50716000-50717800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:50716000-50717800	Active TSS	Fetal Intestine Small	intestine
19	chr15:50716000-50717800	Active TSS	Left Ventricle	heart
20	chr15:50716000-50717800	Active TSS	Psoas Muscle	Psoas
21	chr15:50716000-50717800	Active TSS	Right Ventricle	heart
22	chr15:50716000-50718000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:50716000-50718000	Active TSS	Fetal Intestine Large	intestine
24	chr15:50716000-50718000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:50716000-50718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:50716000-50718600	Active TSS	K562	blood
27	chr15:50716200-50717800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:50716200-50717800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:50716200-50717800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:50716200-50717800	Active TSS	Fetal Muscle Trunk	muscle
31	chr15:50716200-50717800	Active TSS	Placenta	Placenta
32	chr15:50716200-50718000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:50716200-50718000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:50716200-50718000	Active TSS	NHDF-Ad	bronchial
35	chr15:50716200-50718200	Active TSS	HMEC	breast
36	chr15:50716200-50719200	Active TSS	GM12878-XiMat	blood
37	chr15:50716400-50717800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:50716400-50717800	Active TSS	Fetal Thymus	thymus
39	chr15:50716400-50717800	Active TSS	Gastric	stomach
40	chr15:50716600-50717800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr15:50716600-50717800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:50716800-50717800	Bivalent/Poised TSS	HepG2	liver
43	chr15:50716800-50718800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr15:50717000-50717800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr15:50717000-50717800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr15:50717000-50718000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr15:50717000-50718200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:50717000-50718200	Flanking Active TSS	Liver	Liver
49	chr15:50717000-50718600	Weak transcription	Spleen	Spleen
50	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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