Variant report

Variant	rs34320415
Chromosome Location	chr11:62343130-62343131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62340361-62343429	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:62340451-62343229	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:62340838-62343328	PANC-1	pancreas:	n/a	n/a
4	HCFC1	chr11:62340241-62343154	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:62342545-62343285	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:62343097-62343379	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:62340430-62343447	K562	blood:	n/a	n/a
8	POLR2A	chr11:62343055-62343413	K562	blood:	n/a	n/a
9	POLR2A	chr11:62336372-62343528	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:62339890-62343476	K562	blood:	n/a	n/a
11	POLR2A	chr11:62343041-62343363	K562	blood:	n/a	n/a
12	POLR2A	chr11:62340974-62343136	ProgFib	skin:	n/a	n/a
13	POLR2A	chr11:62342574-62343146	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:62340288-62345368	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:62342666-62343156	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:62342571-62343146	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:62339990-62343218	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:62340247-62343140	GM12892	blood:	n/a	n/a
19	MAZ	chr11:62340192-62343134	IMR90	lung:	n/a	n/a
20	POLR2A	chr11:62343030-62343271	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:62342974-62343729	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:62340736-62343302	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:62340399-62343335	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:62339956-62343404	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:62341156-62343276	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62340405..62345110-chr11:62411071..62415747,8	MCF-7	breast:
2	chr11:62339974..62343757-chr11:62445815..62448618,4	MCF-7	breast:
3	chr11:62193708..62196596-chr11:62341420..62344056,2	MCF-7	breast:
4	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
5	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
6	chr11:62337877..62349012-chr11:62352905..62362829,37	MCF-7	breast:
7	chr11:62341571..62343456-chr11:62380691..62382479,2	MCF-7	breast:
8	chr11:62170453..62172724-chr11:62341699..62343504,2	K562	blood:
9	chr11:62339984..62344096-chr11:62621681..62625316,4	K562	blood:
10	chr11:62337874..62344102-chr11:62431342..62435931,16	K562	blood:
11	chr11:62339316..62344491-chr11:62604974..62610455,12	K562	blood:
12	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
13	chr11:62340137..62343961-chr11:62493759..62497514,6	K562	blood:
14	chr11:62340160..62343347-chr11:62607889..62609663,3	MCF-7	breast:
15	chr11:62338989..62347081-chr11:62430108..62436394,14	MCF-7	breast:
16	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
17	chr11:62341367..62343567-chr11:62607914..62609857,2	MCF-7	breast:
18	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:

No data

Variant related genes	Relation type
EEF1G	TF binding region
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000149021	Chromatin interaction
ENSG00000255446	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11231123	1.00[EUR][1000 genomes]
rs11828907	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157352	1.00[EUR][1000 genomes]
rs3888584	1.00[EUR][1000 genomes]
rs41346047	1.00[EUR][1000 genomes]
rs41427449	1.00[EUR][1000 genomes]
rs57799986	1.00[EUR][1000 genomes]
rs58505493	1.00[EUR][1000 genomes]
rs58792209	1.00[EUR][1000 genomes]
rs59143369	1.00[EUR][1000 genomes]
rs73483978	1.00[EUR][1000 genomes]
rs73485621	1.00[EUR][1000 genomes]
rs73485634	1.00[EUR][1000 genomes]
rs73500265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
9	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62340600-62343200	Active TSS	Fetal Kidney	kidney
2	chr11:62341800-62343200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:62341800-62343200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:62341800-62343400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr11:62341800-62343600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:62341800-62343600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:62341800-62345400	Flanking Active TSS	HUVEC	blood vessel
8	chr11:62342000-62343200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr11:62342000-62343200	Flanking Active TSS	Dnd41	blood
10	chr11:62342000-62343200	Flanking Active TSS	NH-A	brain
11	chr11:62342000-62343400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:62342000-62345000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:62342200-62343200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:62342200-62343200	Flanking Active TSS	Placenta	Placenta
15	chr11:62342200-62343200	Flanking Active TSS	Stomach Mucosa	stomach
16	chr11:62342200-62343200	Transcr. at gene 5' and 3'	NHLF	lung
17	chr11:62342200-62343600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:62342200-62343600	Flanking Active TSS	Osteobl	bone
19	chr11:62342400-62343400	Flanking Active TSS	HepG2	liver
20	chr11:62342400-62343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:62342400-62352600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:62342400-62358200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:62342600-62343200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:62342600-62343200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:62342600-62343200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:62342600-62343200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:62342600-62343200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
28	chr11:62342600-62343200	Flanking Active TSS	HSMM	muscle
29	chr11:62342600-62343400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:62342600-62343400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:62342600-62343400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:62342600-62343400	Genic enhancers	Brain Anterior Caudate	brain
33	chr11:62342600-62343400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
34	chr11:62342600-62343400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:62342600-62343400	Flanking Active TSS	Colonic Mucosa	Colon
36	chr11:62342600-62343400	Enhancers	Ovary	ovary
37	chr11:62342600-62343400	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr11:62342600-62343400	Transcr. at gene 5' and 3'	Hela-S3	cervix
39	chr11:62342600-62343600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:62342600-62344000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:62342600-62344600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:62342600-62345800	Weak transcription	Aorta	Aorta
43	chr11:62342600-62348400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:62342600-62355000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:62342800-62343200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:62342800-62343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:62342800-62343200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:62342800-62343200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:62342800-62343200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:62342800-62343200	Genic enhancers	Brain Hippocampus Middle	brain

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