Variant report

Variant	rs7503843
Chromosome Location	chr17:37793388-37793389
allele	C/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	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	CTCF	chr17:37793260-37793410	AG09319	gingival:	n/a	n/a
7	ZNF143	chr17:37793110-37793715	K562	blood:	n/a	chr17:37793293-37793303
8	POLR2A	chr17:37791765-37794352	HepG2	liver:	n/a	n/a
9	ATF2	chr17:37793324-37793698	GM12878	blood:	n/a	n/a
10	MAX	chr17:37793122-37793838	SK-N-SH	brain:	n/a	chr17:37793619-37793629
11	GABPA	chr17:37793097-37793956	HL-60	blood:	n/a	chr17:37793554-37793563
12	TCF12	chr17:37793339-37793679	GM12878	blood:	n/a	chr17:37793478-37793488
13	SIN3A	chr17:37793101-37794286	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:37793001-37793762	HepG2	liver:	n/a	n/a
15	ETS1	chr17:37793359-37793752	A549	lung:	n/a	chr17:37793373-37793383 chr17:37793372-37793381 chr17:37793554-37793565
16	CEBPB	chr17:37793312-37793756	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr17:37793033-37793757	HCT-116	colon:	n/a	n/a
18	E2F6	chr17:37793385-37793634	K562	blood:	n/a	chr17:37793445-37793457 chr17:37793446-37793457
19	SPI1	chr17:37793116-37793993	GM12878	blood:	n/a	chr17:37793167-37793180 chr17:37793623-37793630
20	CTCF	chr17:37793316-37793500	GM12892	blood:	n/a	n/a
21	POLR2A	chr17:37792913-37793965	GM12892	blood:	n/a	n/a
22	CTCF	chr17:37793360-37793510	Caco-2	colon:	n/a	n/a
23	SPI1	chr17:37793257-37793490	K562	blood:	n/a	n/a
24	POLR2A	chr17:37793039-37793846	K562	blood:	n/a	n/a
25	CHD2	chr17:37793183-37793709	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr17:37793031-37793829	GM12878	blood:	n/a	n/a
27	CTCF	chr17:37793211-37793563	K562	blood:	n/a	n/a
28	SIX5	chr17:37793244-37793752	A549	lung:	n/a	n/a
29	REST	chr17:37792688-37794261	H1-neurons	neurons:	n/a	chr17:37793562-37793575 chr17:37793562-37793575
30	USF1	chr17:37793299-37793783	A549	lung:	n/a	chr17:37793640-37793656
31	CTCF	chr17:37793320-37793470	SK-N-SH_RA	brain:	n/a	n/a
32	BCLAF1	chr17:37793274-37793790	GM12878	blood:	n/a	chr17:37793641-37793650 chr17:37793311-37793324 chr17:37793372-37793381
33	CTCF	chr17:37793300-37793450	Hela-S3	cervix:	n/a	n/a
34	MAX	chr17:37792863-37794089	A549	lung:	n/a	chr17:37793619-37793629
35	POLR2A	chr17:37793032-37793835	GM19099	blood:	n/a	n/a
36	NRF1	chr17:37793072-37793643	GM12878	blood:	n/a	chr17:37793554-37793563
37	CHD2	chr17:37793237-37793744	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:37793052-37793778	NB4	blood:	n/a	n/a
39	TAF1	chr17:37793050-37793753	ECC-1	luminal epithelium:	n/a	n/a
40	CHD2	chr17:37793292-37793649	HepG2	liver:	n/a	n/a
41	NRF1	chr17:37793109-37793481	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr17:37793012-37793904	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr17:37793088-37793707	A549	lung:	n/a	n/a
44	SMC3	chr17:37793381-37793745	GM12878	blood:	n/a	n/a
45	YY1	chr17:37793077-37794015	A549	lung:	n/a	n/a
46	MAX	chr17:37793106-37793727	Hela-S3	cervix:	n/a	chr17:37793619-37793629
47	CTCF	chr17:37793380-37793530	GM12874	blood:	n/a	n/a
48	POLR2A	chr17:37793025-37793884	GM18526	blood:	n/a	n/a
49	CTCF	chr17:37793340-37793490	RPTEC	kidney:	n/a	n/a
50	MAX	chr17:37793152-37793666	HepG2	liver:	n/a	chr17:37793619-37793629

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:

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12937003	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942857	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12943875	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2055859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2132140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33932099	0.93[AFR][1000 genomes]
rs34130088	0.87[AFR][1000 genomes]
rs34445181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34963535	1.00[EUR][1000 genomes]
rs57837184	1.00[EUR][1000 genomes]
rs59438000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67615144	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68087665	1.00[EUR][1000 genomes]
rs7224588	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308326	1.00[EUR][1000 genomes]
rs8066399	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075130	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8075931	0.87[AFR][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	chr17:37788200-37793400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:37790400-37793400	Weak transcription	Small Intestine	intestine
3	chr17:37792400-37795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:37792600-37793400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr17:37792600-37793400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr17:37792600-37794000	Active TSS	HSMM	muscle
7	chr17:37792600-37795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:37792800-37793400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:37792800-37793400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:37792800-37793400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr17:37792800-37793400	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr17:37792800-37793400	Flanking Active TSS	Fetal Thymus	thymus
13	chr17:37792800-37793400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr17:37792800-37794200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:37792800-37794200	Active TSS	Aorta	Aorta
16	chr17:37792800-37794200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr17:37792800-37794200	Active TSS	Psoas Muscle	Psoas
18	chr17:37792800-37794200	Active TSS	NHLF	lung
19	chr17:37792800-37794400	Active TSS	Right Atrium	heart
20	chr17:37792800-37794600	Active TSS	Ovary	ovary
21	chr17:37792800-37794800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr17:37793000-37793400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:37793000-37793400	Flanking Active TSS	Fetal Brain Male	brain
24	chr17:37793000-37794000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:37793000-37794000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:37793000-37794000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:37793000-37794000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr17:37793000-37794000	Active TSS	Brain Angular Gyrus	brain
29	chr17:37793000-37794000	Active TSS	Brain Hippocampus Middle	brain
30	chr17:37793000-37794000	Active TSS	Left Ventricle	heart
31	chr17:37793000-37794000	Active TSS	Right Ventricle	heart
32	chr17:37793000-37794000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr17:37793000-37794200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr17:37793000-37794400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr17:37793000-37794400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:37793000-37794400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:37793000-37794400	Active TSS	NHDF-Ad	bronchial
38	chr17:37793000-37794800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:37793200-37793400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr17:37793200-37793400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:37793200-37793400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:37793200-37793400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:37793200-37793400	Weak transcription	Gastric	stomach
44	chr17:37793200-37793400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr17:37793200-37793600	Active TSS	Adipose Nuclei	Adipose
46	chr17:37793200-37793600	Active TSS	Brain Anterior Caudate	brain
47	chr17:37793200-37793600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr17:37793200-37793600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr17:37793200-37793800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:37793200-37793800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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