Variant report

Variant	rs3176635
Chromosome Location	chr9:100459048-100459049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr9:100458945-100459914	K562	blood:	n/a	chr9:100459358-100459367
2	RCOR1	chr9:100458712-100459877	K562	blood:	n/a	n/a
3	MAFK	chr9:100458740-100459306	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:100458110-100460285	MCF10A-Er-Src	breast:	n/a	n/a
5	CTBP2	chr9:100459035-100459798	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr9:100459015-100459940	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr9:100459011-100459433	K562	blood:	n/a	chr9:100459359-100459368 chr9:100459102-100459112
8	YY1	chr9:100459039-100459749	A549	lung:	n/a	chr9:100459098-100459112
9	ZNF263	chr9:100458787-100459805	HEK293-T-REx	kidney:	n/a	n/a
10	MXI1	chr9:100458379-100460052	GM12878	blood:	n/a	n/a
11	MXI1	chr9:100458476-100460001	Hela-S3	cervix:	n/a	n/a
12	MAX	chr9:100458982-100459954	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr9:100458965-100459819	SK-N-SH	brain:	n/a	n/a
14	MAX	chr9:100459043-100459891	K562	blood:	n/a	n/a
15	POLR2A	chr9:100459048-100459978	GM19193	blood:	n/a	n/a
16	MAZ	chr9:100458852-100460181	GM12878	blood:	n/a	n/a
17	MYC	chr9:100458449-100460078	K562	blood:	n/a	n/a
18	POLR2A	chr9:100459033-100459949	Hela-S3	cervix:	n/a	n/a
19	HCFC1	chr9:100458902-100459928	K562	blood:	n/a	n/a
20	TCF7L2	chr9:100459037-100459827	Hela-S3	cervix:	n/a	n/a
21	KAP1	chr9:100458800-100459296	U2OS	brain:	n/a	n/a
22	CTCF	chr9:100458900-100459050	MCF-7	breast:	n/a	n/a
23	YY1	chr9:100458984-100459800	SK-N-SH_RA	brain:	n/a	chr9:100459098-100459112
24	ZEB1	chr9:100459046-100459390	GM12878	blood:	n/a	n/a
25	MYC	chr9:100458479-100459790	K562	blood:	n/a	n/a
26	MAFK	chr9:100458678-100459182	IMR90	lung:	n/a	n/a
27	GABPA	chr9:100459006-100459563	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr9:100458976-100459956	HepG2	liver:	n/a	n/a
29	MAX	chr9:100458877-100459943	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr9:100458978-100459995	SK-N-SH	brain:	n/a	n/a
31	MAX	chr9:100458943-100459896	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr9:100458704-100459775	K562	blood:	n/a	n/a
33	POLR2A	chr9:100458991-100459988	Hela-S3	cervix:	n/a	n/a
34	TCF3	chr9:100458973-100459767	GM12878	blood:	n/a	n/a
35	RCOR1	chr9:100458454-100460059	K562	blood:	n/a	n/a
36	MAX	chr9:100458894-100459944	SK-N-SH	brain:	n/a	n/a
37	MAX	chr9:100458950-100459917	A549	lung:	n/a	n/a
38	SIN3A	chr9:100459023-100459599	GM12878	blood:	n/a	n/a
39	MXI1	chr9:100457686-100460675	SK-N-SH	brain:	n/a	n/a
40	MAX	chr9:100458714-100459938	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr9:100459006-100459965	GM12878	blood:	n/a	n/a
42	POLR2A	chr9:100459002-100459899	HL-60	blood:	n/a	n/a
43	SIN3AK20	chr9:100458858-100459573	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr9:100458984-100460003	MCF-7	breast:	n/a	n/a
45	PML	chr9:100458807-100460033	GM12878	blood:	n/a	n/a
46	MAX	chr9:100458909-100460086	HepG2	liver:	n/a	n/a
47	MAZ	chr9:100459002-100460060	K562	blood:	n/a	n/a
48	MTA3	chr9:100458996-100460082	GM12878	blood:	n/a	n/a
49	STAT5A	chr9:100458922-100459992	GM12878	blood:	n/a	n/a
50	ZBTB7A	chr9:100459012-100459775	ECC-1	luminal epithelium:	n/a	chr9:100459209-100459220

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100457791..100462084-chr9:100462112..100466505,5	K562	blood:
2	chr9:100458137..100459680-chr9:100684005..100686050,2	MCF-7	breast:
3	chr9:100457693..100459222-chr9:100744821..100747461,2	K562	blood:
4	chr9:100393846..100397319-chr9:100457855..100461087,4	MCF-7	breast:
5	chr9:100393858..100397326-chr9:100457081..100460285,5	MCF-7	breast:
6	chr9:100392082..100395139-chr9:100455935..100459131,3	K562	blood:
7	chr9:100456538..100459527-chr9:100606763..100609012,2	K562	blood:
8	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
9	chr9:100411786..100413328-chr9:100457588..100459137,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P13	TF binding region
ENSG00000266608	TF binding region
ENSG00000136938	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000266608	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1543636	0.80[YRI][hapmap]
rs16923033	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16923041	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs16923112	0.86[AFR][1000 genomes]
rs1813875	0.94[AFR][1000 genomes]
rs1928641	0.80[YRI][hapmap]
rs2297155	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2297156	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2297158	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2297159	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2297160	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2401635	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176623	0.86[AFR][1000 genomes]
rs3176624	0.86[AFR][1000 genomes]
rs3176626	0.86[AFR][1000 genomes]
rs3176628	0.86[AFR][1000 genomes]
rs3176629	0.86[AFR][1000 genomes]
rs3176634	0.81[AFR][1000 genomes]
rs3176637	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176638	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176644	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176651	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176659	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176668	0.85[AFR][1000 genomes]
rs3176669	0.86[AFR][1000 genomes]
rs3176670	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176675	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176682	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176685	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176687	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176688	0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs3176694	0.86[AFR][1000 genomes]
rs3176706	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176708	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176711	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176712	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176714	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176720	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176723	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176724	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176726	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs3176735	0.86[AFR][1000 genomes]
rs3176736	0.86[AFR][1000 genomes]
rs3176740	0.86[AFR][1000 genomes]
rs3176744	0.84[AFR][1000 genomes]
rs3176746	0.86[AFR][1000 genomes]
rs3176747	0.86[AFR][1000 genomes]
rs3802474	0.80[YRI][hapmap]
rs56052819	0.85[AFR][1000 genomes]
rs56200116	0.85[AFR][1000 genomes]
rs57598118	0.86[AFR][1000 genomes]
rs59354722	0.85[AFR][1000 genomes]
rs59662386	0.81[AFR][1000 genomes]
rs59775587	0.86[AFR][1000 genomes]
rs60055057	0.81[AFR][1000 genomes]
rs60463150	0.86[AFR][1000 genomes]
rs60821994	0.86[AFR][1000 genomes]
rs61208411	0.86[AFR][1000 genomes]
rs61221847	0.81[AFR][1000 genomes]
rs61440789	0.85[AFR][1000 genomes]
rs61739366	0.90[AFR][1000 genomes]
rs6478304	0.80[YRI][hapmap]
rs6478305	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7021377	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7036604	0.80[YRI][hapmap]
rs7045160	0.85[AFR][1000 genomes]
rs7341850	0.81[AFR][1000 genomes]
rs73498323	0.92[AFR][1000 genomes]
rs73498329	0.94[AFR][1000 genomes]
rs73498332	0.81[AFR][1000 genomes]
rs73498338	0.81[AFR][1000 genomes]
rs73498347	0.81[AFR][1000 genomes]
rs73498348	0.81[AFR][1000 genomes]
rs73498355	0.81[AFR][1000 genomes]
rs73498358	0.81[AFR][1000 genomes]
rs73498359	0.94[AFR][1000 genomes]
rs73498362	0.81[AFR][1000 genomes]
rs73498365	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498377	0.86[AFR][1000 genomes]
rs73498380	0.86[AFR][1000 genomes]
rs73498381	0.86[AFR][1000 genomes]
rs73500307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500321	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500325	0.86[AFR][1000 genomes]
rs73500326	0.82[AFR][1000 genomes]
rs73500328	0.86[AFR][1000 genomes]
rs73500392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500393	0.86[AFR][1000 genomes]
rs73500395	0.86[AFR][1000 genomes]
rs73500396	0.86[AFR][1000 genomes]
rs73500397	0.86[AFR][1000 genomes]
rs73500398	0.86[AFR][1000 genomes]
rs73500400	0.86[AFR][1000 genomes]
rs73500402	0.80[AFR][1000 genomes]
rs73502208	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73502210	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73551090	0.90[AFR][1000 genomes]
rs73554650	0.91[AFR][1000 genomes]
rs7850986	0.86[AFR][1000 genomes]
rs7857174	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7859979	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7862356	0.85[AFR][1000 genomes]
rs7866961	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs7867046	0.80[YRI][hapmap]
rs7869683	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking 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 target site	32 gene(s)	inside rSNPs	diseases
2	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr9:100457800-100459800	Active TSS	NHLF	lung
2	chr9:100457800-100460000	Active TSS	Aorta	Aorta
3	chr9:100458000-100459200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr9:100458000-100459200	Active TSS	Right Atrium	heart
5	chr9:100458000-100459600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:100458000-100459800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:100458000-100460000	Active TSS	Ovary	ovary
8	chr9:100458200-100459200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr9:100458200-100459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:100458200-100459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:100458200-100460000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:100458200-100460000	Active TSS	Fetal Muscle Trunk	muscle
13	chr9:100458200-100460000	Active TSS	Pancreas	Pancrea
14	chr9:100458400-100459200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:100458400-100459200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr9:100458400-100459600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:100458400-100459800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:100458400-100459800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr9:100458400-100459800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:100458400-100459800	Active TSS	Hela-S3	cervix
21	chr9:100458400-100459800	Active TSS	HSMM	muscle
22	chr9:100458400-100459800	Active TSS	NHDF-Ad	bronchial
23	chr9:100458400-100460000	Active TSS	Esophagus	oesophagus
24	chr9:100458400-100460000	Active TSS	Left Ventricle	heart
25	chr9:100458400-100460200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:100458400-100460200	Active TSS	Psoas Muscle	Psoas
27	chr9:100458400-100460400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr9:100458600-100459200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr9:100458600-100459200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:100458600-100459400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr9:100458600-100459600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:100458600-100459600	Active TSS	Gastric	stomach
33	chr9:100458600-100459800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:100458600-100459800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr9:100458600-100459800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:100458600-100459800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr9:100458600-100459800	Active TSS	Colon Smooth Muscle	Colon
38	chr9:100458600-100459800	Active TSS	Fetal Intestine Large	intestine
39	chr9:100458600-100459800	Active TSS	Fetal Intestine Small	intestine
40	chr9:100458600-100459800	Active TSS	Fetal Muscle Leg	muscle
41	chr9:100458600-100459800	Active TSS	Fetal Stomach	stomach
42	chr9:100458600-100459800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr9:100458600-100459800	Active TSS	Small Intestine	intestine
44	chr9:100458600-100459800	Active TSS	Stomach Smooth Muscle	stomach
45	chr9:100458600-100459800	Active TSS	Thymus	Thymus
46	chr9:100458600-100459800	Active TSS	GM12878-XiMat	blood
47	chr9:100458600-100459800	Active TSS	K562	blood
48	chr9:100458600-100459800	Active TSS	Osteobl	bone
49	chr9:100458600-100460000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:100458600-100460000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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