Variant report

Variant	rs73502208
Chromosome Location	chr9:100464548-100464549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr9:100464321-100464574	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100457791..100462084-chr9:100462112..100466505,5	K562	blood:
2	chr9:100462976..100466831-chr9:100467484..100471759,4	K562	blood:
3	chr9:100456256..100459810-chr9:100463870..100468057,7	MCF-7	breast:
4	chr9:100464367..100467056-chr9:100650913..100653289,2	K562	blood:
5	chr9:100458037..100462084-chr9:100463856..100467658,7	MCF-7	breast:

No data

Variant related genes	Relation type
XPA	TF binding region
ENSG00000136936	Chromatin interaction
ENSG00000214417	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs16923033	0.92[AFR][1000 genomes]
rs16923112	0.82[AFR][1000 genomes]
rs1813875	0.92[AFR][1000 genomes]
rs2297155	0.82[AFR][1000 genomes]
rs2297156	0.82[AFR][1000 genomes]
rs2297158	0.82[AFR][1000 genomes]
rs2297159	0.82[AFR][1000 genomes]
rs2297160	0.82[AFR][1000 genomes]
rs2401635	0.82[AFR][1000 genomes]
rs3176623	0.82[AFR][1000 genomes]
rs3176624	0.82[AFR][1000 genomes]
rs3176626	0.82[AFR][1000 genomes]
rs3176628	0.82[AFR][1000 genomes]
rs3176629	0.82[AFR][1000 genomes]
rs3176635	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176637	0.82[AFR][1000 genomes]
rs3176638	0.82[AFR][1000 genomes]
rs3176644	0.82[AFR][1000 genomes]
rs3176651	0.82[AFR][1000 genomes]
rs3176657	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176659	0.82[AFR][1000 genomes]
rs3176668	0.81[AFR][1000 genomes]
rs3176669	0.82[AFR][1000 genomes]
rs3176670	0.82[AFR][1000 genomes]
rs3176675	0.82[AFR][1000 genomes]
rs3176682	0.82[AFR][1000 genomes]
rs3176685	0.82[AFR][1000 genomes]
rs3176687	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176694	0.82[AFR][1000 genomes]
rs3176706	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176708	0.82[AFR][1000 genomes]
rs3176711	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176712	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3176714	0.82[AFR][1000 genomes]
rs3176720	0.82[AFR][1000 genomes]
rs3176723	0.82[AFR][1000 genomes]
rs3176724	0.82[AFR][1000 genomes]
rs3176726	0.82[AFR][1000 genomes]
rs3176735	0.82[AFR][1000 genomes]
rs3176736	0.82[AFR][1000 genomes]
rs3176740	0.82[AFR][1000 genomes]
rs3176744	0.80[AFR][1000 genomes]
rs3176746	0.82[AFR][1000 genomes]
rs3176747	0.82[AFR][1000 genomes]
rs56052819	0.81[AFR][1000 genomes]
rs56200116	0.82[AFR][1000 genomes]
rs57598118	0.82[AFR][1000 genomes]
rs59354722	0.82[AFR][1000 genomes]
rs59775587	0.82[AFR][1000 genomes]
rs60463150	0.82[AFR][1000 genomes]
rs60821994	0.82[AFR][1000 genomes]
rs61208411	0.82[AFR][1000 genomes]
rs61440789	0.81[AFR][1000 genomes]
rs61739366	0.87[AFR][1000 genomes]
rs6478305	0.87[AFR][1000 genomes]
rs7021377	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7045160	0.81[AFR][1000 genomes]
rs73498323	0.89[AFR][1000 genomes]
rs73498329	0.91[AFR][1000 genomes]
rs73498359	0.92[AFR][1000 genomes]
rs73498365	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73498377	0.82[AFR][1000 genomes]
rs73498380	0.82[AFR][1000 genomes]
rs73498381	0.82[AFR][1000 genomes]
rs73500307	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73500321	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73500325	0.82[AFR][1000 genomes]
rs73500328	0.82[AFR][1000 genomes]
rs73500392	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73500393	0.82[AFR][1000 genomes]
rs73500395	0.82[AFR][1000 genomes]
rs73500396	0.82[AFR][1000 genomes]
rs73500397	0.82[AFR][1000 genomes]
rs73500398	0.82[AFR][1000 genomes]
rs73500400	0.82[AFR][1000 genomes]
rs73500402	0.85[AFR][1000 genomes]
rs73502210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551090	0.87[AFR][1000 genomes]
rs73554650	0.88[AFR][1000 genomes]
rs7850986	0.82[AFR][1000 genomes]
rs7857174	0.88[AFR][1000 genomes]
rs7859979	0.88[AFR][1000 genomes]
rs7862356	0.81[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	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
3	nsv972792	chr9:100460351-100466365	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100459800-100466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:100460000-100465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:100460200-100465400	Weak transcription	HSMM	muscle
4	chr9:100460400-100465000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:100460400-100465200	Weak transcription	Liver	Liver
6	chr9:100460400-100465200	Weak transcription	Hela-S3	cervix
7	chr9:100460400-100465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:100460400-100465400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:100460400-100465400	Weak transcription	Fetal Intestine Large	intestine
10	chr9:100460400-100465400	Weak transcription	HSMMtube	muscle
11	chr9:100460400-100465600	Weak transcription	Pancreas	Pancrea
12	chr9:100460400-100465600	Weak transcription	HUVEC	blood vessel
13	chr9:100460400-100465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:100460400-100465800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:100460400-100465800	Weak transcription	Stomach Mucosa	stomach
16	chr9:100460400-100467000	Weak transcription	Esophagus	oesophagus
17	chr9:100460400-100467800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:100460600-100465000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:100460600-100465200	Weak transcription	Fetal Kidney	kidney
20	chr9:100460600-100465200	Weak transcription	A549	lung
21	chr9:100461400-100467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr9:100461600-100465400	Weak transcription	HMEC	breast
23	chr9:100461600-100467200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr9:100462200-100466000	Weak transcription	K562	blood
25	chr9:100462400-100465200	Weak transcription	GM12878-XiMat	blood
26	chr9:100462400-100472800	Weak transcription	Brain Substantia Nigra	brain
27	chr9:100464000-100465400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:100464200-100464600	Weak transcription	HepG2	liver

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