Variant report

Variant	rs59438000
Chromosome Location	chr17:37793555-37793556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:377)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr17:37793339-37793821	GM12878	blood:	n/a	n/a
2	MXI1	chr17:37793385-37793733	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:37793045-37793674	HepG2	liver:	n/a	n/a
4	MYBL2	chr17:37792760-37794222	HepG2	liver:	n/a	n/a
5	MAX	chr17:37792851-37794237	HepG2	liver:	n/a	chr17:37793619-37793629
6	ZNF143	chr17:37793110-37793715	K562	blood:	n/a	chr17:37793293-37793303
7	POLR2A	chr17:37791765-37794352	HepG2	liver:	n/a	n/a
8	ATF2	chr17:37793324-37793698	GM12878	blood:	n/a	n/a
9	MAX	chr17:37793122-37793838	SK-N-SH	brain:	n/a	chr17:37793619-37793629
10	GABPA	chr17:37793097-37793956	HL-60	blood:	n/a	chr17:37793554-37793563
11	TCF12	chr17:37793339-37793679	GM12878	blood:	n/a	chr17:37793478-37793488
12	SIN3A	chr17:37793101-37794286	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:37793001-37793762	HepG2	liver:	n/a	n/a
14	ETS1	chr17:37793359-37793752	A549	lung:	n/a	chr17:37793373-37793383 chr17:37793372-37793381 chr17:37793554-37793565
15	CEBPB	chr17:37793312-37793756	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr17:37793033-37793757	HCT-116	colon:	n/a	n/a
17	E2F6	chr17:37793385-37793634	K562	blood:	n/a	chr17:37793445-37793457 chr17:37793446-37793457
18	SPI1	chr17:37793116-37793993	GM12878	blood:	n/a	chr17:37793167-37793180 chr17:37793623-37793630
19	POLR2A	chr17:37792913-37793965	GM12892	blood:	n/a	n/a
20	POLR2A	chr17:37793039-37793846	K562	blood:	n/a	n/a
21	CHD2	chr17:37793183-37793709	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:37793031-37793829	GM12878	blood:	n/a	n/a
23	CTCF	chr17:37793211-37793563	K562	blood:	n/a	n/a
24	YY1	chr17:37793390-37793719	GM12891	blood:	n/a	n/a
25	SIX5	chr17:37793244-37793752	A549	lung:	n/a	n/a
26	REST	chr17:37792688-37794261	H1-neurons	neurons:	n/a	chr17:37793562-37793575 chr17:37793562-37793575
27	USF1	chr17:37793299-37793783	A549	lung:	n/a	chr17:37793640-37793656
28	KAP1	chr17:37793396-37793740	U2OS	brain:	n/a	n/a
29	BCLAF1	chr17:37793274-37793790	GM12878	blood:	n/a	chr17:37793641-37793650 chr17:37793311-37793324 chr17:37793372-37793381
30	MAX	chr17:37792863-37794089	A549	lung:	n/a	chr17:37793619-37793629
31	POLR2A	chr17:37793032-37793835	GM19099	blood:	n/a	n/a
32	NRF1	chr17:37793072-37793643	GM12878	blood:	n/a	chr17:37793554-37793563
33	MXI1	chr17:37793403-37793667	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr17:37793237-37793744	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr17:37793052-37793778	NB4	blood:	n/a	n/a
36	TAF1	chr17:37793050-37793753	ECC-1	luminal epithelium:	n/a	n/a
37	CHD2	chr17:37793292-37793649	HepG2	liver:	n/a	n/a
38	POLR2A	chr17:37793012-37793904	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr17:37793088-37793707	A549	lung:	n/a	n/a
40	SMC3	chr17:37793381-37793745	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr17:37793518-37793781	HepG2	liver:	n/a	n/a
42	YY1	chr17:37793077-37794015	A549	lung:	n/a	n/a
43	MAX	chr17:37793106-37793727	Hela-S3	cervix:	n/a	chr17:37793619-37793629
44	POLR2A	chr17:37793025-37793884	GM18526	blood:	n/a	n/a
45	MYC	chr17:37793479-37793669	HUVEC	blood vessel:	n/a	chr17:37793619-37793629
46	MAX	chr17:37793152-37793666	HepG2	liver:	n/a	chr17:37793619-37793629
47	POLR2A	chr17:37793009-37794236	Hela-S3	cervix:	n/a	n/a
48	FOSL2	chr17:37792847-37794139	A549	lung:	n/a	chr17:37793643-37793652
49	HEY1	chr17:37793105-37793811	K562	blood:	n/a	n/a
50	SIX5	chr17:37793387-37793743	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37793518-37793568	CMK	blood:	n/a
2	chr17:37793518-37793568	H1-hESC	embryonic stem cell:	embryo
3	chr17:37793518-37793568	SK-N-SH	brain:	n/a
4	chr17:37793518-37793568	GM12892	blood:	n/a
5	chr17:37793518-37793568	Jurkat	blood:	n/a
6	chr17:37793518-37793568	HL-60	blood:	n/a
7	chr17:37793518-37793568	MCF-7	breast:	n/a
8	chr17:37793518-37793568	HAEpiC	amniotic membrane:	n/a
9	chr17:37793518-37793568	NHDF-neo	bronchial:	n/a
10	chr17:37793518-37793568	PANC-1	pancreas:	n/a
11	chr17:37793518-37793568	AG10803	skin:	n/a
12	chr17:37793518-37793568	PrEC	prostate:	n/a
13	chr17:37793518-37793568	SAEC	small airway:	n/a
14	chr17:37793518-37793568	SKMC	muscle:	n/a
15	chr17:37793518-37793568	Hela-S3	cervix:	n/a
16	chr17:37793518-37793568	PFSK-1	brain:	n/a
17	chr17:37793518-37793568	BE2_C	brain:	n/a
18	chr17:37793518-37793568	HPAEpiC	pulmonary alveolar:	n/a
19	chr17:37793518-37793568	NHBE	bronchial:	n/a
20	chr17:37793518-37793568	AG09309	skin:	n/a
21	chr17:37793518-37793568	HCPEpiC	choroid plexus:	n/a
22	chr17:37793518-37793568	LNCaP	prostate:	n/a
23	chr17:37793518-37793568	GM12891	blood:	n/a
24	chr17:37793518-37793568	HCT-116	colon:	n/a
25	chr17:37793518-37793568	T-47D	breast:	n/a
26	chr17:37793518-37793568	NH-A	brain:	n/a
27	chr17:37793518-37793568	AoSMC	blood vessel:	n/a
28	chr17:37793518-37793568	Caco-2	colon:	n/a
29	chr17:37793518-37793568	ProgFib	skin:	n/a
30	chr17:37793518-37793568	AG04450	lung:	fetal
31	chr17:37793518-37793568	HCF	heart:	n/a
32	chr17:37793518-37793568	HRPEpiC	eye:	n/a
33	chr17:37793518-37793568	SK-N-MC	brain:	n/a
34	chr17:37793518-37793568	HRE	kidney:	n/a
35	chr17:37793518-37793568	RPTEC	kidney:	n/a
36	chr17:37793518-37793568	IMR90	lung:	fetal
37	chr17:37793518-37793568	SK-N-SH_RA	brain:	n/a
38	chr17:37793518-37793568	K562	blood:	n/a
39	chr17:37793518-37793568	HUVEC	blood vessel:	n/a
40	chr17:37793518-37793568	A549	lung:	n/a
41	chr17:37793518-37793568	MCF10A-Er-Src	breast:	n/a
42	chr17:37793518-37793568	ovcar-3	ovarian:	n/a
43	chr17:37793518-37793568	HIPEpiC	eye:	n/a
44	chr17:37793518-37793568	AG04449	skin:	fetal
45	chr17:37793518-37793568	AG09319	gingival:	n/a
46	chr17:37793518-37793568	HEEpiC	esophagus:	n/a
47	chr17:37793518-37793568	GM12878	blood:	n/a
48	chr17:37793518-37793568	ECC-1	luminal epithelium:	n/a
49	chr17:37793518-37793568	BJ	skin:	n/a
50	chr17:37793518-37793568	U87	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37792978..37793885-chr8:38088863..38089522,2	Hela-S3	cervix:
2	chr17:37792734..37794533-chr17:37886471..37888127,2	K562	blood:
3	chr17:37792116..37794246-chr17:37816401..37819185,2	MCF-7	breast:
4	chr17:37793295..37796255-chr17:37843602..37845450,3	K562	blood:
5	chr17:37792417..37794971-chr17:37842551..37845979,3	MCF-7	breast:
6	chr17:37792994..37793773-chr5:1801500..1802235,2	Hela-S3	cervix:
7	chr17:37793229..37795498-chr17:37814501..37816101,2	MCF-7	breast:
8	chr17:37791351..37794497-chr17:37895466..37898659,4	MCF-7	breast:
9	chr17:37790905..37794856-chr17:37820000..37822270,4	K562	blood:
10	chr17:37792000..37794042-chr17:37806624..37808948,2	MCF-7	breast:
11	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
12	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
13	chr17:37762236..37764592-chr17:37791810..37794599,2	K562	blood:

No data

Variant related genes	Relation type
STARD3	TF binding region
STARD3	CpG island
ENSG00000141741	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000085788	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000171532	Chromatin interaction
ENSG00000145494	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1107794	0.86[AFR][1000 genomes]
rs12937003	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942857	1.00[EUR][1000 genomes]
rs12943875	1.00[EUR][1000 genomes]
rs1874224	0.92[AFR][1000 genomes]
rs2055859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2132140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952150	0.89[AFR][1000 genomes]
rs34445181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34554211	0.94[AFR][1000 genomes]
rs34963535	1.00[EUR][1000 genomes]
rs57837184	1.00[EUR][1000 genomes]
rs67615144	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68087665	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7224588	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308326	1.00[EUR][1000 genomes]
rs7503843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075130	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 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	chr17:37792400-37795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:37792600-37794000	Active TSS	HSMM	muscle
3	chr17:37792600-37795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:37792800-37794200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:37792800-37794200	Active TSS	Aorta	Aorta
6	chr17:37792800-37794200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:37792800-37794200	Active TSS	Psoas Muscle	Psoas
8	chr17:37792800-37794200	Active TSS	NHLF	lung
9	chr17:37792800-37794400	Active TSS	Right Atrium	heart
10	chr17:37792800-37794600	Active TSS	Ovary	ovary
11	chr17:37792800-37794800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr17:37793000-37794000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:37793000-37794000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:37793000-37794000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:37793000-37794000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:37793000-37794000	Active TSS	Brain Angular Gyrus	brain
17	chr17:37793000-37794000	Active TSS	Brain Hippocampus Middle	brain
18	chr17:37793000-37794000	Active TSS	Left Ventricle	heart
19	chr17:37793000-37794000	Active TSS	Right Ventricle	heart
20	chr17:37793000-37794000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr17:37793000-37794200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr17:37793000-37794400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr17:37793000-37794400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:37793000-37794400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:37793000-37794400	Active TSS	NHDF-Ad	bronchial
26	chr17:37793000-37794800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:37793200-37793600	Active TSS	Adipose Nuclei	Adipose
28	chr17:37793200-37793600	Active TSS	Brain Anterior Caudate	brain
29	chr17:37793200-37793600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr17:37793200-37793600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:37793200-37793800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:37793200-37793800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:37793200-37793800	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr17:37793200-37793800	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr17:37793200-37793800	Active TSS	Primary B cells from peripheral blood	blood
36	chr17:37793200-37793800	Active TSS	Primary hematopoietic stem cells	blood
37	chr17:37793200-37793800	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr17:37793200-37793800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr17:37793200-37793800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr17:37793200-37793800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:37793200-37793800	Active TSS	Liver	Liver
42	chr17:37793200-37793800	Active TSS	Brain Substantia Nigra	brain
43	chr17:37793200-37793800	Active TSS	Colonic Mucosa	Colon
44	chr17:37793200-37793800	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:37793200-37793800	Active TSS	Stomach Mucosa	stomach
46	chr17:37793200-37793800	Active TSS	Hela-S3	cervix
47	chr17:37793200-37793800	Active TSS	HUVEC	blood vessel
48	chr17:37793200-37793800	Active TSS	K562	blood
49	chr17:37793200-37794000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr17:37793200-37794000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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