Variant report

Variant	rs9379993
Chromosome Location	chr6:27569894-27569895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27568112..27571226-chr6:27572842..27574899,3	K562	blood:
2	chr6:27569083..27571892-chr6:27582628..27586229,3	K562	blood:
3	chr6:27568300..27570576-chr6:27654240..27656534,2	K562	blood:
4	chr6:27519259..27522990-chr6:27565885..27571122,5	K562	blood:
5	chr6:27568750..27570723-chr6:27570904..27572466,2	K562	blood:
6	chr6:27568805..27570354-chr6:27773367..27775370,2	K562	blood:
7	chr6:27513124..27515343-chr6:27568656..27571026,2	K562	blood:
8	chr6:27155275..27158320-chr6:27568064..27571527,3	K562	blood:
9	chr6:27559683..27565961-chr6:27567961..27572614,12	K562	blood:
10	chr6:27567458..27570358-chr6:27579037..27581872,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000217862	Chromatin interaction
ENSG00000206671	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12174918	0.80[AMR][1000 genomes]
rs16867962	0.80[AMR][1000 genomes]
rs2394001	0.80[AMR][1000 genomes]
rs4711158	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711161	0.83[AMR][1000 genomes]
rs4713116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4713117	0.92[AMR][1000 genomes]
rs4713122	0.80[AMR][1000 genomes]
rs4713124	0.80[AMR][1000 genomes]
rs56911191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58727692	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59015666	0.80[AMR][1000 genomes]
rs9357041	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9368515	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9368516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9379987	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9379988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9379989	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9379991	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9379997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9380009	0.80[AMR][1000 genomes]
rs9380013	0.80[AMR][1000 genomes]
rs9380015	0.80[AMR][1000 genomes]
rs9393825	0.83[AMR][1000 genomes]
rs9393829	0.91[AMR][1000 genomes]
rs9393845	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27568000-27570000	Active TSS	Hela-S3	cervix
2	chr6:27568200-27571200	Active TSS	A549	lung
3	chr6:27568400-27570400	Active TSS	K562	blood
4	chr6:27568800-27571000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:27568800-27571200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:27568800-27571200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:27569000-27570400	Weak transcription	HMEC	breast
8	chr6:27569000-27570600	Active TSS	GM12878-XiMat	blood
9	chr6:27569000-27571000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27569000-27571200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:27569200-27570000	Enhancers	HepG2	liver
12	chr6:27569200-27570800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:27569200-27570800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:27569200-27571000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:27569200-27571200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:27569200-27571400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:27569400-27570000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:27569400-27570800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:27569400-27570800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:27569400-27571400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:27569600-27570000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:27569600-27570000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr6:27569600-27570000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:27569600-27570000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:27569600-27570000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:27569600-27570000	Flanking Active TSS	NHEK	skin
27	chr6:27569600-27570200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:27569600-27570400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:27569600-27570600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:27569600-27570800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:27569600-27570800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:27569600-27571000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:27569800-27570000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:27569800-27570000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:27569800-27570000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:27569800-27570000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:27569800-27570000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr6:27569800-27570000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:27569800-27570000	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr6:27569800-27570400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr6:27569800-27570400	Weak transcription	NHDF-Ad	bronchial
42	chr6:27569800-27570600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:27569800-27570600	Enhancers	HUVEC	blood vessel
44	chr6:27569800-27570800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:27569800-27571400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:27569800-27574400	Active TSS	HUES6 Cell Line	embryonic stem cell

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