Variant report

Variant	rs73710453
Chromosome Location	chr7:98984545-98984546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:98984491-98984961	HepG2	liver:	n/a	n/a
2	CTCF	chr7:98984085-98984997	A549	lung:	n/a	n/a
3	BCL3	chr7:98984143-98984671	A549	lung:	n/a	n/a
4	ZC3H11A	chr7:98984493-98984816	K562	blood:	n/a	n/a
5	MAX	chr7:98984511-98984777	K562	blood:	n/a	n/a
6	POLR2A	chr7:98983899-98984691	GM12878	blood:	n/a	n/a
7	STAT5A	chr7:98984028-98984824	GM12878	blood:	n/a	n/a
8	RAD21	chr7:98984451-98984816	A549	lung:	n/a	n/a
9	CTCF	chr7:98984497-98984928	K562	blood:	n/a	n/a
10	POLR2A	chr7:98984401-98984711	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr7:98984492-98984938	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr7:98983914-98984655	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:98984183-98984936	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:98983953-98984618	GM12892	blood:	n/a	n/a
15	CTCF	chr7:98984540-98984690	HFF-Myc	foreskin:	n/a	n/a
16	POLR2A	chr7:98983915-98984863	HL-60	blood:	n/a	n/a
17	POLR2A	chr7:98983952-98985267	GM12891	blood:	n/a	n/a
18	CTCF	chr7:98984504-98984893	K562	blood:	n/a	n/a
19	POLR2A	chr7:98984457-98984930	K562	blood:	n/a	n/a
20	USF1	chr7:98984473-98984772	K562	blood:	n/a	n/a
21	CTCF	chr7:98984514-98984876	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:98984198-98984754	GM12891	blood:	n/a	n/a
23	MAX	chr7:98984449-98984868	NB4	blood:	n/a	n/a
24	CTCF	chr7:98984440-98984590	HCM	heart:	n/a	n/a
25	ZMIZ1	chr7:98984462-98984769	K562	blood:	n/a	n/a
26	YY1	chr7:98984532-98984765	K562	blood:	n/a	n/a
27	POLR2A	chr7:98984258-98984576	A549	lung:	n/a	n/a
28	RCOR1	chr7:98984465-98984718	K562	blood:	n/a	n/a
29	MTA3	chr7:98984464-98984873	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:98983906-98984870	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr7:98984369-98984971	HCT-116	colon:	n/a	n/a
32	RAD21	chr7:98984477-98984892	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr7:98984001-98984761	GM12878	blood:	n/a	n/a
34	RAD21	chr7:98984384-98984841	MCF-7	breast:	n/a	n/a
35	RAD21	chr7:98984531-98984888	GM12878	blood:	n/a	n/a
36	RAD21	chr7:98984452-98984915	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:98984540-98984690	Hela-S3	cervix:	n/a	n/a
38	ZNF143	chr7:98984430-98984747	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr7:98984538-98984893	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:98984331-98984644	HCT-116	colon:	n/a	n/a
41	POLR2A	chr7:98983958-98984668	GM18505	blood:	n/a	n/a
42	ZNF143	chr7:98984512-98984852	K562	blood:	n/a	n/a
43	RAD21	chr7:98984491-98984834	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:98984033-98984647	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:98983917-98984830	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr7:98984114-98984650	GM12891	blood:	n/a	n/a
47	CTCF	chr7:98984530-98984927	GM12878	blood:	n/a	n/a
48	CTCF	chr7:98984544-98984837	HepG2	liver:	n/a	n/a
49	SMC3	chr7:98984503-98984909	HepG2	liver:	n/a	n/a
50	RAD21	chr7:98984421-98984914	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
2	chr7:98963016..98963837-chr7:98984520..98985154,2	MCF-7	breast:
3	chr7:98962837..98963797-chr7:98984507..98985215,3	MCF-7	breast:
4	chr7:98960796..98963310-chr7:98983560..98985753,2	MCF-7	breast:
5	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56104955	1.00[AFR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845845	1.00[AMR][1000 genomes]
rs56992635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57467259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs58586429	1.00[AFR][1000 genomes]
rs59346440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60206309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710445	0.86[AFR][1000 genomes]
rs73710452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711289	1.00[AFR][1000 genomes]
rs73711292	1.00[AMR][1000 genomes]
rs73711299	1.00[AMR][1000 genomes]
rs73711300	1.00[AMR][1000 genomes]
rs73713503	1.00[AMR][1000 genomes]
rs73713504	1.00[AMR][1000 genomes]
rs73713510	1.00[AFR][1000 genomes]
rs73713518	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98973400-98987400	Weak transcription	Brain Germinal Matrix	brain
3	chr7:98973400-98987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:98973400-98989800	Weak transcription	Brain Angular Gyrus	brain
5	chr7:98978000-98987000	Weak transcription	Small Intestine	intestine
6	chr7:98978200-98989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:98978800-98985000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:98978800-98989000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:98979000-98984600	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:98979000-98989600	Weak transcription	Stomach Mucosa	stomach
11	chr7:98979200-98987000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:98979200-98987000	Weak transcription	HSMM	muscle
13	chr7:98979200-98989600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:98979400-98984600	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:98979600-98989800	Weak transcription	Fetal Heart	heart
17	chr7:98979600-98990200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:98979600-98990200	Weak transcription	Right Atrium	heart
19	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:98980600-98989600	Strong transcription	NHEK	skin
21	chr7:98980800-98990000	Strong transcription	NHLF	lung
22	chr7:98980800-99000600	Strong transcription	Dnd41	blood
23	chr7:98981000-98988400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:98981000-98993000	Strong transcription	A549	lung
25	chr7:98981200-98989800	Strong transcription	Fetal Intestine Small	intestine
26	chr7:98981200-98989800	Strong transcription	Thymus	Thymus
27	chr7:98981200-98990000	Strong transcription	K562	blood
28	chr7:98981400-98989800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr7:98981400-98989800	Strong transcription	Fetal Stomach	stomach
30	chr7:98981600-98989800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:98981800-98986800	Weak transcription	Fetal Brain Female	brain
32	chr7:98981800-98988800	Strong transcription	GM12878-XiMat	blood
33	chr7:98981800-98989800	Weak transcription	Fetal Brain Male	brain
34	chr7:98982400-98987200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:98982400-98987400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:98982400-98989600	Strong transcription	Spleen	Spleen
37	chr7:98982400-98989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:98982800-98989000	Strong transcription	Fetal Thymus	thymus
39	chr7:98983000-98984600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:98983000-98984800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:98983000-98988600	Strong transcription	Gastric	stomach
42	chr7:98983000-98989400	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:98983000-98989600	Strong transcription	HMEC	breast
44	chr7:98983000-98989600	Strong transcription	HUVEC	blood vessel
45	chr7:98983000-98989800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:98983200-98984800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:98983200-98989000	Strong transcription	Pancreas	Pancrea
48	chr7:98983200-98989000	Strong transcription	Right Ventricle	heart
49	chr7:98983200-98989200	Strong transcription	Colonic Mucosa	Colon
50	chr7:98983200-98989400	Strong transcription	Fetal Intestine Large	intestine

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