Variant report

Variant	rs73711213
Chromosome Location	chr7:99006972-99006973
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	POLR2A	chr7:99004959-99007064	PFSK-1	brain:	n/a	n/a
2	IRF1	chr7:99006037-99007040	K562	blood:	n/a	n/a
3	E2F4	chr7:99006279-99007096	MCF10A-Er-Src	breast:	n/a	chr7:99006346-99006355
4	MXI1	chr7:99005332-99007193	HepG2	liver:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
5	RELA	chr7:99005960-99007025	GM18505	blood:	n/a	n/a
6	PML	chr7:99005413-99007342	GM12878	blood:	n/a	chr7:99005829-99005838
7	SIN3AK20	chr7:99006224-99007027	A549	lung:	n/a	n/a
8	TAF1	chr7:99005543-99007027	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:99006017-99007018	GM12878	blood:	n/a	n/a
10	GATA1	chr7:99005955-99007310	PBDE	blood:	n/a	n/a
11	SMARCC1	chr7:99005369-99007295	Hela-S3	cervix:	n/a	chr7:99005830-99005839
12	POLR2A	chr7:99005506-99007025	K562	blood:	n/a	n/a
13	POLR2A	chr7:99003969-99007015	SK-N-MC	brain:	n/a	n/a
14	UBTF	chr7:99006006-99007121	K562	blood:	n/a	n/a
15	POLR2A	chr7:99006048-99007030	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr7:99005123-99007151	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:99005187-99007322	GM12892	blood:	n/a	n/a
18	RFX5	chr7:99006264-99007101	GM12878	blood:	n/a	chr7:99006650-99006667 chr7:99006651-99006666 chr7:99006651-99006666 chr7:99006654-99006668 chr7:99006376-99006390 chr7:99006651-99006666 chr7:99006459-99006467 chr7:99006375-99006391
19	SIN3A	chr7:99005887-99007023	GM12878	blood:	n/a	chr7:99006255-99006268
20	TBP	chr7:99005995-99007068	GM12878	blood:	n/a	n/a
21	MTA3	chr7:99004942-99007455	GM12878	blood:	n/a	n/a
22	MAX	chr7:99006026-99007032	GM12878	blood:	n/a	n/a
23	CTCF	chr7:99006920-99007070	GM12873	blood:	n/a	n/a
24	CHD1	chr7:99005707-99007049	GM12878	blood:	n/a	n/a
25	RELA	chr7:99005988-99007150	GM19099	blood:	n/a	n/a
26	MYC	chr7:99005420-99006994	Hela-S3	cervix:	n/a	n/a
27	HA-E2F1	chr7:99005570-99006999	MCF-7	breast:	n/a	chr7:99006261-99006271 chr7:99006267-99006277 chr7:99006264-99006274 chr7:99006346-99006355
28	TCF12	chr7:99005781-99007271	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr7:99006109-99006995	GM12891	blood:	n/a	n/a
30	ELF1	chr7:99005886-99007075	K562	blood:	n/a	chr7:99006222-99006233 chr7:99006437-99006450 chr7:99006266-99006275 chr7:99006265-99006277 chr7:99006667-99006679
31	POLR2A	chr7:99005542-99006990	K562	blood:	n/a	n/a
32	POLR2A	chr7:99004847-99007309	K562	blood:	n/a	n/a
33	RCOR1	chr7:99006028-99007086	K562	blood:	n/a	n/a
34	MXI1	chr7:99006243-99006975	K562	blood:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
35	TBP	chr7:99005500-99006977	K562	blood:	n/a	n/a
36	POLR2A	chr7:99004851-99007425	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr7:99003803-99007899	SK-N-SH	brain:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99005830-99005840 chr7:99007391-99007400
38	POLR2A	chr7:99005362-99006991	GM12891	blood:	n/a	n/a
39	POLR2A	chr7:99005442-99007036	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:99005219-99007100	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:99003742-99007162	SK-N-SH	brain:	n/a	n/a
42	SIN3AK20	chr7:99006220-99006978	A549	lung:	n/a	n/a
43	MAZ	chr7:99005689-99007123	K562	blood:	n/a	n/a
44	TBP	chr7:99006221-99007008	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr7:99005077-99007229	GM12878	blood:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
46	NR2F2	chr7:99004834-99007401	K562	blood:	n/a	n/a
47	POLR2A	chr7:99005030-99006994	U87	brain:	n/a	n/a
48	POLR2A	chr7:99004714-99006984	PANC-1	pancreas:	n/a	n/a
49	RUNX3	chr7:99005768-99007306	GM12878	blood:	n/a	chr7:99006283-99006300
50	POLR2A	chr7:99004668-99007732	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
2	chr7:99005493..99007248-chr7:99698114..99700010,2	MCF-7	breast:
3	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
4	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
5	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
6	chr17:57917415..57919234-chr7:99005336..99006972,2	MCF-7	breast:
7	chr1:37939890..37940421-chr7:99006196..99007120,2	Hela-S3	cervix:
8	chr7:99006119..99007069-chr7:129592041..129592902,2	Hela-S3	cervix:
9	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
10	chr7:99004357..99007369-chr7:99061400..99065046,4	K562	blood:
11	chr7:99005603..99007986-chr7:99155532..99158163,2	K562	blood:
12	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
13	chr7:99005276..99007163-chr7:99100557..99104017,3	K562	blood:
14	chr21:41754491..41756003-chr7:99004951..99007138,2	MCF-7	breast:
15	chr17:56736254..56736831-chr7:99006376..99007011,2	Hela-S3	cervix:
16	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
17	chr7:99005495..99008019-chr7:99062000..99063927,3	MCF-7	breast:
18	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
19	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
20	chr7:98986172..98988816-chr7:99004808..99007138,3	MCF-7	breast:
21	chr7:99005061..99007834-chr7:99068897..99070903,2	MCF-7	breast:
22	chr17:57917564..57920084-chr7:99004805..99007004,2	MCF-7	breast:
23	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

Variant related genes	Relation type
BUD31	TF binding region
PDAP1	TF binding region
ENSG00000166508	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000235123	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 40 )
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]
rs73710453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	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:2 , 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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99004200-99008000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:99004600-99007600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:99004600-99007800	Active TSS	Psoas Muscle	Psoas
4	chr7:99004600-99008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:99004800-99007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:99004800-99007600	Active TSS	Aorta	Aorta
7	chr7:99005000-99007000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:99005000-99007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:99005000-99007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:99005000-99007400	Active TSS	Fetal Muscle Trunk	muscle
11	chr7:99005000-99007800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:99005000-99007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:99005000-99007800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:99005000-99007800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:99005000-99008000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:99005200-99007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:99005200-99007400	Active TSS	Small Intestine	intestine
18	chr7:99005200-99007600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:99005200-99007600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:99005200-99007600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:99005200-99007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:99005200-99007600	Active TSS	Fetal Intestine Large	intestine
23	chr7:99005200-99007600	Active TSS	Fetal Kidney	kidney
24	chr7:99005200-99007600	Active TSS	Ovary	ovary
25	chr7:99005200-99007600	Active TSS	A549	lung
26	chr7:99005200-99007600	Active TSS	HSMM	muscle
27	chr7:99005200-99007600	Active TSS	K562	blood
28	chr7:99005200-99007600	Active TSS	NHDF-Ad	bronchial
29	chr7:99005200-99007600	Active TSS	NHLF	lung
30	chr7:99005200-99007800	Active TSS	Lung	lung
31	chr7:99005200-99008000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:99005200-99008000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:99005400-99007200	Active TSS	Right Ventricle	heart
34	chr7:99005400-99007400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:99005400-99007400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:99005400-99007400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:99005400-99007400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:99005400-99007400	Active TSS	Left Ventricle	heart
39	chr7:99005400-99007400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr7:99005400-99007400	Active TSS	Hela-S3	cervix
41	chr7:99005400-99007400	Active TSS	NHEK	skin
42	chr7:99005400-99007600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:99005400-99007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:99005400-99007600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:99005400-99007600	Active TSS	Esophagus	oesophagus
46	chr7:99005400-99007600	Active TSS	Fetal Intestine Small	intestine
47	chr7:99005400-99007600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:99005400-99007600	Bivalent/Poised TSS	HepG2	liver
49	chr7:99005400-99007600	Active TSS	HMEC	breast
50	chr7:99005400-99007600	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links