Variant report

Variant	rs370384189
Chromosome Location	chr11:62624599-62624600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr11:62623970-62624628	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:62624507-62625160	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:62617338-62625222	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:62624494-62624813	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:62618403-62625433	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:62617682-62625430	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:62624500-62626198	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:62617286-62625531	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:62624506-62625177	K562	blood:	n/a	n/a
10	POLR2A	chr11:62617624-62625492	PFSK-1	brain:	n/a	n/a
11	NR2F2	chr11:62624570-62625009	K562	blood:	n/a	n/a
12	POLR2A	chr11:62624563-62625383	K562	blood:	n/a	n/a
13	HEY1	chr11:62618343-62624934	K562	blood:	n/a	n/a
14	GTF3C2	chr11:62623982-62624622	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:62624505-62625398	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
2	chr11:62474385..62478486-chr11:62621122..62625313,5	MCF-7	breast:
3	chr11:62621914..62624685-chr8:87526558..87528139,2	MCF-7	breast:
4	chr11:62493159..62495020-chr11:62623607..62625320,2	MCF-7	breast:
5	chr11:62565367..62576307-chr11:62617328..62626616,39	K562	blood:
6	chr11:62339984..62344096-chr11:62621681..62625316,4	K562	blood:
7	chr11:62473263..62476310-chr11:62622744..62625720,5	K562	blood:
8	chr11:62359506..62362353-chr11:62619695..62624770,4	K562	blood:
9	chr11:62432496..62434344-chr11:62623258..62625470,4	K562	blood:
10	chr11:62543432..62547564-chr11:62620532..62624657,4	K562	blood:
11	chr11:62357996..62360027-chr11:62622057..62624821,2	K562	blood:
12	chr11:62492410..62497430-chr11:62621392..62625675,11	K562	blood:
13	chr11:62536052..62541340-chr11:62621462..62624868,6	K562	blood:
14	chr11:62355177..62359057-chr11:62621096..62624754,3	K562	blood:
15	chr11:62552943..62561747-chr11:62616572..62625876,31	K562	blood:
16	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
17	chr11:62622571..62624950-chr17:56708103..56709921,2	MCF-7	breast:
18	chr11:62339818..62342516-chr11:62622172..62625340,3	MCF-7	breast:
19	chr11:62492343..62497215-chr11:62619514..62625025,15	MCF-7	breast:
20	chr11:62488201..62492065-chr11:62621719..62624928,3	MCF-7	breast:
21	chr11:62622647..62624760-chr17:56735142..56736993,2	MCF-7	breast:
22	chr11:62621913..62624821-chr17:57922662..57925594,2	MCF-7	breast:
23	chr11:62388618..62392022-chr11:62621970..62625527,4	K562	blood:
24	chr11:62357691..62360390-chr11:62623455..62624975,2	MCF-7	breast:
25	chr11:62492410..62497148-chr11:62620379..62625675,11	K562	blood:
26	chr11:62473688..62475805-chr11:62622758..62625720,5	K562	blood:
27	chr11:62431862..62434344-chr11:62623258..62625462,3	K562	blood:
28	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
29	chr11:62526685..62530530-chr11:62620957..62624924,5	K562	blood:
30	chr11:62365951..62369565-chr11:62622521..62625872,5	K562	blood:
31	chr11:62476521..62478365-chr11:62623672..62625247,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNHG1	TF binding region
ENSG00000269463	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000168569	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
4	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
5	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
6	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
7	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
8	nsv983154	chr11:62621265-62625410	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	133 gene(s)	inside rSNPs	diseases
9	esv3341990	chr11:62624304-62624658	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62620600-62626000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62620800-62626000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62621800-62624600	Active TSS	Fetal Intestine Small	intestine
4	chr11:62621800-62624600	Active TSS	Small Intestine	intestine
5	chr11:62622200-62624600	Active TSS	Pancreas	Pancrea
6	chr11:62622200-62624800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:62622200-62624800	Active TSS	Fetal Brain Female	brain
8	chr11:62622200-62625000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:62622400-62624600	Active TSS	Fetal Intestine Large	intestine
10	chr11:62622400-62625600	Active TSS	GM12878-XiMat	blood
11	chr11:62622600-62624600	Active TSS	HUVEC	blood vessel
12	chr11:62622600-62625200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:62622800-62624800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:62622800-62624800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:62622800-62625000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:62622800-62625600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:62622800-62625600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:62623000-62625200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:62623000-62625200	Active TSS	Hela-S3	cervix
20	chr11:62623000-62625400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:62623000-62626000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:62623000-62626400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:62623000-62626400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:62623000-62626600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:62623000-62627000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:62623200-62624600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:62623200-62624600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:62623200-62625000	Active TSS	K562	blood
29	chr11:62623200-62625200	Active TSS	A549	lung
30	chr11:62623200-62625600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:62623200-62625800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:62623200-62626400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:62623200-62626400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:62623200-62627000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:62623600-62624600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr11:62623600-62625000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:62623600-62625400	Flanking Active TSS	Fetal Thymus	thymus
38	chr11:62624000-62624600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:62624000-62624600	Active TSS	NHLF	lung
40	chr11:62624000-62625000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:62624000-62625000	Active TSS	HepG2	liver
42	chr11:62624000-62625400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:62624000-62625800	Enhancers	Spleen	Spleen
44	chr11:62624200-62624600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:62624200-62624600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:62624200-62624600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:62624200-62624600	Active TSS	Colonic Mucosa	Colon
48	chr11:62624200-62624600	Active TSS	HMEC	breast
49	chr11:62624200-62624800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:62624200-62625000	Active TSS	Primary T helper cells PMA-I stimulated	--

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