Variant report

Variant	rs73655536
Chromosome Location	chr9:103188826-103188827
allele	A/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	RFX5	chr9:103188826-103189392	K562	blood:	n/a	n/a
2	MAX	chr9:103188564-103189602	HCT-116	colon:	n/a	chr9:103188955-103188964
3	TAF1	chr9:103188755-103189688	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU2F2	chr9:103188728-103189140	GM12891	blood:	n/a	n/a
5	POLR2A	chr9:103188735-103190414	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr9:103188795-103189456	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:103188739-103189695	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr9:103188753-103189442	PFSK-1	brain:	n/a	n/a
9	MYBL2	chr9:103188790-103189338	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:103188818-103190157	MCF-7	breast:	n/a	n/a
11	STAT3	chr9:103187945-103189004	MCF10A-Er-Src	breast:	n/a	chr9:103188243-103188254 chr9:103188810-103188822
12	JUND	chr9:103188781-103190307	A549	lung:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
13	MAZ	chr9:103188809-103190287	Hela-S3	cervix:	n/a	chr9:103188955-103188964
14	MXI1	chr9:103188017-103189727	SK-N-SH	brain:	n/a	n/a
15	REST	chr9:103188732-103189308	A549	lung:	n/a	n/a
16	MXI1	chr9:103188739-103189651	HepG2	liver:	n/a	n/a
17	TEAD4	chr9:103188692-103189157	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:103188402-103189449	PBDE	blood:	n/a	n/a
19	IRF1	chr9:103188546-103189434	K562	blood:	n/a	chr9:103188955-103188964 chr9:103189386-103189395
20	CEBPB	chr9:103188510-103189120	IMR90	lung:	n/a	chr9:103188703-103188714
21	POLR2A	chr9:103188563-103190189	K562	blood:	n/a	n/a
22	EP300	chr9:103188640-103189146	Hela-S3	cervix:	n/a	chr9:103188788-103188802
23	POLR2A	chr9:103188791-103189586	HL-60	blood:	n/a	n/a
24	POLR2A	chr9:103188391-103189378	U87	brain:	n/a	n/a
25	POLR2A	chr9:103188753-103189754	MCF-7	breast:	n/a	n/a
26	TCF7L2	chr9:103188745-103189664	HCT-116	colon:	n/a	chr9:103188956-103188965
27	RFX5	chr9:103188807-103189226	HepG2	liver:	n/a	n/a
28	JUN	chr9:103188772-103189718	K562	blood:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
29	FOSL2	chr9:103188602-103189380	A549	lung:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
30	TCF12	chr9:103188530-103189539	A549	lung:	n/a	n/a
31	RCOR1	chr9:103188510-103190318	K562	blood:	n/a	n/a
32	ZNF143	chr9:103188761-103189415	K562	blood:	n/a	n/a
33	EP300	chr9:103188618-103189490	K562	blood:	n/a	chr9:103189370-103189379 chr9:103188788-103188802
34	FOS	chr9:103188027-103189171	MCF10A-Er-Src	breast:	n/a	chr9:103188954-103188965 chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965
35	POLR2A	chr9:103188638-103190214	K562	blood:	n/a	n/a
36	EP300	chr9:103188752-103189220	GM12878	blood:	n/a	chr9:103188788-103188802
37	JUND	chr9:103188586-103189449	HCT-116	colon:	n/a	chr9:103188954-103188966 chr9:103188956-103188964 chr9:103188955-103188965 chr9:103188955-103188965 chr9:103188954-103188965
38	MAFK	chr9:103188530-103189150	HepG2	liver:	n/a	chr9:103188957-103188966 chr9:103188955-103188970
39	POLR2A	chr9:103188816-103189115	HCT-116	colon:	n/a	n/a
40	POLR2A	chr9:103188826-103189137	A549	lung:	n/a	n/a
41	MYC	chr9:103188820-103189198	MCF10A-Er-Src	breast:	n/a	chr9:103188955-103188964
42	YY1	chr9:103188717-103189456	SK-N-SH_RA	brain:	n/a	chr9:103189368-103189382
43	YY1	chr9:103188812-103189690	K562	blood:	n/a	chr9:103189368-103189382
44	POLR2A	chr9:103188809-103190217	HEK293	kidney:	n/a	n/a
45	MYBL2	chr9:103188764-103189257	HepG2	liver:	n/a	n/a
46	MAX	chr9:103188724-103189534	SK-N-SH	brain:	n/a	chr9:103188955-103188964
47	YY1	chr9:103188802-103189517	K562	blood:	n/a	chr9:103189368-103189382
48	MAX	chr9:103188710-103190262	HepG2	liver:	n/a	chr9:103188955-103188964
49	MXI1	chr9:103188678-103189503	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr9:103188665-103189485	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102580552..102583439-chr9:103187663..103189259,2	MCF-7	breast:
2	chr9:103188255..103190992-chr9:103234182..103236159,2	MCF-7	breast:
3	chr12:56510216..56511089-chr9:103188467..103189444,2	Hela-S3	cervix:
4	chr9:103187168..103189222-chr9:103356564..103358499,2	K562	blood:
5	chr11:62608651..62609649-chr9:103188677..103189695,4	Hela-S3	cervix:
6	chr9:103108891..103111879-chr9:103188016..103191736,3	K562	blood:
7	chr3:57678348..57678964-chr9:103188755..103189418,2	Hela-S3	cervix:
8	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
9	chr9:103182521..103185122-chr9:103187370..103189359,3	K562	blood:
10	chr9:103185149..103186826-chr9:103187204..103188970,2	K562	blood:
11	chr9:103187999..103190908-chr9:103233595..103236918,6	MCF-7	breast:
12	chr9:102581117..102583683-chr9:103188604..103191068,4	K562	blood:
13	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
14	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
15	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

Variant related genes	Relation type
MSANTD3	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000237461	Chromatin interaction
ENSG00000241697	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000136891	Chromatin interaction
ENSG00000241933	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1016176	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1016177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10989090	0.81[EUR][1000 genomes]
rs10989092	0.81[EUR][1000 genomes]
rs12237166	0.80[EUR][1000 genomes]
rs17740576	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17813447	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17813663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17813801	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17813854	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2026998	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151107	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35438121	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41274963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4395949	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56179916	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56313595	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56720423	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57241635	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58030694	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58698990	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59668196	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61306839	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61386923	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7046659	0.80[EUR][1000 genomes]
rs72733393	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72733395	0.88[EUR][1000 genomes]
rs72733397	0.87[EUR][1000 genomes]
rs72735110	0.82[EUR][1000 genomes]
rs73655529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73655530	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655532	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655534	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655537	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73655539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655540	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655541	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655542	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655543	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655545	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73655550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73655551	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655553	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655554	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv614955	chr9:103181596-103261227	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3443911	chr9:103188156-103191004	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3369267	chr9:103188781-103190679	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103188200-103189000	Enhancers	Fetal Heart	heart
2	chr9:103188200-103189000	Flanking Active TSS	Hela-S3	cervix
3	chr9:103188200-103189000	Flanking Active TSS	HMEC	breast
4	chr9:103188200-103189000	Flanking Active TSS	NHEK	skin
5	chr9:103188400-103189000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:103188400-103189000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:103188400-103189200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:103188400-103189200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr9:103188400-103189200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:103188400-103189200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:103188400-103189200	Flanking Active TSS	HUVEC	blood vessel
12	chr9:103188400-103189800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:103188400-103190200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:103188400-103190200	Active TSS	HepG2	liver
15	chr9:103188400-103190600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr9:103188400-103191000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:103188600-103189000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr9:103188600-103189000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
19	chr9:103188600-103189000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:103188600-103189000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:103188600-103189000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr9:103188600-103189000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:103188600-103189000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr9:103188600-103189000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr9:103188600-103189000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr9:103188600-103189000	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr9:103188600-103189000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr9:103188600-103189000	Flanking Active TSS	Fetal Brain Female	brain
29	chr9:103188600-103189000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
30	chr9:103188600-103189000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr9:103188600-103189000	Flanking Active TSS	HSMM	muscle
32	chr9:103188600-103189000	Flanking Active TSS	K562	blood
33	chr9:103188600-103189200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr9:103188600-103189200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:103188600-103189200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr9:103188600-103189200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:103188600-103189200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr9:103188600-103189200	Flanking Active TSS	Liver	Liver
39	chr9:103188600-103189200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr9:103188600-103189200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr9:103188600-103189200	Flanking Active TSS	Fetal Lung	lung
42	chr9:103188600-103189200	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr9:103188600-103189200	Flanking Active TSS	Placenta	Placenta
44	chr9:103188600-103189200	Flanking Active TSS	Fetal Stomach	stomach
45	chr9:103188600-103189200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr9:103188600-103189200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr9:103188600-103189200	Flanking Active TSS	GM12878-XiMat	blood
48	chr9:103188600-103189200	Flanking Active TSS	NH-A	brain
49	chr9:103188600-103189200	Flanking Active TSS	NHLF	lung
50	chr9:103188600-103189200	Flanking Active TSS	Osteobl	bone

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