Variant report

Variant	rs61747652
Chromosome Location	chr17:15902649-15902650
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:304)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr17:15902445-15903320	HepG2	liver:	n/a	n/a
2	PML	chr17:15902519-15903284	GM12878	blood:	n/a	n/a
3	BCL3	chr17:15902497-15903276	A549	lung:	n/a	n/a
4	POLR2A	chr17:15902220-15903412	HCT-116	colon:	n/a	n/a
5	CREB1	chr17:15902549-15903358	ECC-1	luminal epithelium:	n/a	n/a
6	SMC3	chr17:15902476-15903177	GM12878	blood:	n/a	chr17:15902750-15902760
7	EP300	chr17:15902390-15903161	A549	lung:	n/a	n/a
8	MXI1	chr17:15901356-15904393	SK-N-SH	brain:	n/a	n/a
9	EP300	chr17:15902539-15903310	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:15902375-15903779	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr17:15902601-15903895	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:15902641-15903630	K562	blood:	n/a	n/a
13	HA-E2F1	chr17:15902616-15903639	Hela-S3	cervix:	n/a	chr17:15902831-15902842 chr17:15902786-15902795 chr17:15902748-15902757
14	POLR2A	chr17:15902583-15903995	H1-neurons	neurons:	n/a	n/a
15	HDAC2	chr17:15902639-15903257	MCF-7	breast:	n/a	n/a
16	HEY1	chr17:15902616-15903386	K562	blood:	n/a	chr17:15902767-15902782
17	ZNF143	chr17:15902431-15903938	GM12878	blood:	n/a	n/a
18	CREB1	chr17:15902623-15903388	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:15902436-15904104	GM18505	blood:	n/a	n/a
20	MXI1	chr17:15902457-15904326	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr17:15902488-15903190	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr17:15902421-15903777	HepG2	liver:	n/a	n/a
23	USF1	chr17:15902500-15903275	A549	lung:	n/a	n/a
24	POLR2A	chr17:15902436-15903786	K562	blood:	n/a	n/a
25	MAZ	chr17:15902487-15903905	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr17:15902330-15904079	MCF-7	breast:	n/a	n/a
27	PBX3	chr17:15902474-15903283	SK-N-SH	brain:	n/a	n/a
28	CREB1	chr17:15902427-15903819	A549	lung:	n/a	n/a
29	MAX	chr17:15902439-15903885	NB4	blood:	n/a	n/a
30	ELK1	chr17:15902488-15903248	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:15902475-15903488	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr17:15902622-15903563	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr17:15902478-15903877	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr17:15902602-15904046	GM12878	blood:	n/a	n/a
35	CREB1	chr17:15902607-15903673	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr17:15902514-15903232	K562	blood:	n/a	n/a
37	E2F6	chr17:15902536-15903717	K562	blood:	n/a	chr17:15902786-15902795 chr17:15902748-15902757
38	JUND	chr17:15902606-15904098	K562	blood:	n/a	n/a
39	MYC	chr17:15901857-15903799	K562	blood:	n/a	n/a
40	TAF1	chr17:15902435-15903949	A549	lung:	n/a	n/a
41	POLR2A	chr17:15902542-15903678	HEK293	kidney:	n/a	n/a
42	POLR2A	chr17:15902460-15903820	PANC-1	pancreas:	n/a	n/a
43	MAX	chr17:15902446-15903711	H1-hESC	embryonic stem cell:	n/a	n/a
44	ETS1	chr17:15902469-15903232	A549	lung:	n/a	chr17:15902786-15902797
45	E2F6	chr17:15902622-15903595	K562	blood:	n/a	chr17:15902786-15902795 chr17:15902748-15902757
46	MAX	chr17:15902442-15903866	HepG2	liver:	n/a	n/a
47	POLR2A	chr17:15902649-15903519	GM10847	blood:	n/a	n/a
48	MAFK	chr17:15902610-15903063	HepG2	liver:	n/a	n/a
49	HCFC1	chr17:15902567-15903686	K562	blood:	n/a	n/a
50	SP1	chr17:15902353-15903294	A549	lung:	n/a	chr17:15902785-15902794 chr17:15902747-15902756 chr17:15902748-15902757 chr17:15902754-15902768 chr17:15902747-15902757 chr17:15902746-15902758 chr17:15902747-15902761

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15902633-15902683	NHBE	bronchial:	n/a
2	chr17:15902633-15902683	HEK293	kidney:	embryo
3	chr17:15902633-15902683	HAEpiC	amniotic membrane:	n/a
4	chr17:15902633-15902683	AG04450	lung:	fetal
5	chr17:15902633-15902683	MCF10A-Er-Src	breast:	n/a
6	chr17:15902633-15902683	CMK	blood:	n/a
7	chr17:15902633-15902683	HPAEpiC	pulmonary alveolar:	n/a
8	chr17:15902633-15902683	HMEC	breast:	n/a
9	chr17:15902633-15902683	A549	lung:	n/a
10	chr17:15902633-15902683	AG09309	skin:	n/a
11	chr17:15902633-15902683	NB4	blood:	n/a
12	chr17:15902633-15902683	GM12891	blood:	n/a
13	chr17:15902633-15902683	GM12892	blood:	n/a
14	chr17:15902633-15902683	HRCEpiC	kidney:	n/a
15	chr17:15902633-15902683	BE2_C	brain:	n/a
16	chr17:15902633-15902683	SKMC	muscle:	n/a
17	chr17:15902633-15902683	K562	blood:	n/a
18	chr17:15902633-15902683	HCF	heart:	n/a
19	chr17:15902633-15902683	PrEC	prostate:	n/a
20	chr17:15902633-15902683	T-47D	breast:	n/a
21	chr17:15902633-15902683	U87	brain:	n/a
22	chr17:15902633-15902683	ProgFib	skin:	n/a
23	chr17:15902633-15902683	NT2-D1	testis:	n/a
24	chr17:15902633-15902683	SK-N-SH_RA	brain:	n/a
25	chr17:15902633-15902683	GM19239	blood:	n/a
26	chr17:15902633-15902683	IMR90	lung:	fetal
27	chr17:15902633-15902683	Hepatocyte	liver:	n/a
28	chr17:15902633-15902683	HUVEC	blood vessel:	n/a
29	chr17:15902633-15902683	SK-N-SH	brain:	n/a
30	chr17:15902633-15902683	HIPEpiC	eye:	n/a
31	chr17:15902633-15902683	AG04449	skin:	fetal
32	chr17:15902633-15902683	NHDF-neo	bronchial:	n/a
33	chr17:15902633-15902683	SAEC	small airway:	n/a
34	chr17:15902633-15902683	NH-A	brain:	n/a
35	chr17:15902633-15902683	LNCaP	prostate:	n/a
36	chr17:15902633-15902683	HRE	kidney:	n/a
37	chr17:15902633-15902683	HEEpiC	esophagus:	n/a
38	chr17:15902633-15902683	AoSMC	blood vessel:	n/a
39	chr17:15902633-15902683	PANC-1	pancreas:	n/a
40	chr17:15902633-15902683	HL-60	blood:	n/a
41	chr17:15902633-15902683	HCT-116	colon:	n/a
42	chr17:15902633-15902683	HNPCEpiC	eye:	n/a
43	chr17:15902633-15902683	ovcar-3	ovarian:	n/a
44	chr17:15902633-15902683	PFSK-1	brain:	n/a
45	chr17:15902633-15902683	Hela-S3	cervix:	n/a
46	chr17:15902633-15902683	HepG2	liver:	n/a
47	chr17:15902633-15902683	GM06990	blood:	n/a
48	chr17:15902633-15902683	Jurkat	blood:	n/a
49	chr17:15902633-15902683	RPTEC	kidney:	n/a
50	chr17:15902633-15902683	MCF-7	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:
2	chr17:15902503..15903133-chr2:47403392..47404131,2	Hela-S3	cervix:
3	chr17:15902291..15902878-chr2:128284164..128285109,2	Hela-S3	cervix:
4	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
5	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
6	chr1:201979391..201980146-chr17:15902285..15903134,2	HCT-116	colon:
7	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
8	chr17:15902395..15902947-chrX:46404691..46405453,2	Hela-S3	cervix:
9	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
10	chr17:15902603..15903275-chr3:150264080..150264900,2	Hela-S3	cervix:
11	chr17:15731737..15732560-chr17:15901825..15902694,3	MCF-7	breast:

No data

Variant related genes	Relation type
TTC19	TF binding region
TTC19	CpG island
ENSG00000108474	Chromatin interaction
ENSG00000251192	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000230844	Chromatin interaction
ENSG00000234678	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000170425	Chromatin interaction
ENSG00000163435	Chromatin interaction
ENSG00000163166	Chromatin interaction
ENSG00000251537	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000266261	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56222555	1.00[AMR][1000 genomes]
rs73978575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS 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	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS 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
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	esv10435	chr17:15902625-15904710	Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	24 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	chr17:15901600-15902800	Flanking Active TSS	GM12878-XiMat	blood
2	chr17:15901600-15903800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:15901600-15904000	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr17:15901600-15904400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15901600-15904400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:15901800-15902800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:15901800-15902800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr17:15901800-15903800	Active TSS	Brain Angular Gyrus	brain
9	chr17:15901800-15903800	Active TSS	Brain Anterior Caudate	brain
10	chr17:15901800-15903800	Active TSS	Brain Cingulate Gyrus	brain
11	chr17:15901800-15903800	Active TSS	Brain Hippocampus Middle	brain
12	chr17:15901800-15903800	Active TSS	Fetal Kidney	kidney
13	chr17:15901800-15904000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:15901800-15904000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:15901800-15904000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:15901800-15904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:15901800-15904000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:15901800-15904000	Active TSS	Fetal Intestine Large	intestine
19	chr17:15901800-15904000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:15901800-15904000	Active TSS	NHEK	skin
21	chr17:15901800-15904200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:15901800-15904200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr17:15901800-15904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr17:15901800-15904600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:15901800-15904600	Active TSS	Stomach Smooth Muscle	stomach
26	chr17:15902000-15902800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr17:15902000-15902800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr17:15902000-15902800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:15902000-15902800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr17:15902000-15902800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15902000-15902800	Active TSS	Right Atrium	heart
32	chr17:15902000-15903000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:15902000-15903400	Active TSS	Fetal Muscle Leg	muscle
34	chr17:15902000-15903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:15902000-15903600	Active TSS	Adipose Nuclei	Adipose
36	chr17:15902000-15903600	Active TSS	Placenta	Placenta
37	chr17:15902000-15903600	Active TSS	Thymus	Thymus
38	chr17:15902000-15903800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:15902000-15903800	Active TSS	Primary T cells from cord blood	blood
40	chr17:15902000-15903800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr17:15902000-15903800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:15902000-15903800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:15902000-15903800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr17:15902000-15903800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:15902000-15903800	Active TSS	Fetal Brain Female	brain
46	chr17:15902000-15903800	Active TSS	Fetal Lung	lung
47	chr17:15902000-15903800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr17:15902000-15903800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr17:15902000-15903800	Active TSS	Osteobl	bone
50	chr17:15902000-15904000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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