Variant report

Variant	rs73279692
Chromosome Location	chr7:26191192-26191193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr7:26190755-26192012	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:26191179-26193156	Raji	blood:	n/a	n/a
3	HCFC1	chr7:26191121-26192055	K562	blood:	n/a	n/a
4	POLR2A	chr7:26190756-26192072	GM12891	blood:	n/a	n/a
5	MTA3	chr7:26190807-26191894	GM12878	blood:	n/a	n/a
6	RUNX3	chr7:26190702-26192063	GM12878	blood:	n/a	n/a
7	MEF2A	chr7:26190823-26191217	GM12878	blood:	n/a	n/a
8	ELF1	chr7:26191187-26192013	GM12878	blood:	n/a	chr7:26191797-26191809
9	MAX	chr7:26191188-26192552	A549	lung:	n/a	chr7:26191976-26191985 chr7:26191806-26191816 chr7:26192034-26192050
10	RCOR1	chr7:26191147-26192023	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:26191181-26192163	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:26191091-26192163	GM12878	blood:	n/a	n/a
13	PML	chr7:26190849-26192181	GM12878	blood:	n/a	n/a
14	MTA3	chr7:26191146-26191669	GM12878	blood:	n/a	n/a
15	ZNF263	chr7:26190749-26191611	HEK293-T-REx	kidney:	n/a	n/a
16	POLR2A	chr7:26188975-26207164	K562	blood:	n/a	n/a
17	POLR2A	chr7:26191178-26193241	GM19193	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26174239..26175923-chr7:26189473..26191347,2	K562	blood:
2	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
3	chr7:26190306..26191845-chr7:26238643..26241387,3	K562	blood:
4	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
5	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
6	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
7	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
8	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:

No data

Variant related genes	Relation type
NFE2L3	TF binding region
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11971108	1.00[ASN][1000 genomes]
rs11971308	1.00[ASN][1000 genomes]
rs11971320	1.00[ASN][1000 genomes]
rs11971402	1.00[ASN][1000 genomes]
rs11972057	1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11977822	1.00[ASN][1000 genomes]
rs11980825	1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	1.00[ASN][1000 genomes]
rs41275982	1.00[ASN][1000 genomes]
rs55754901	1.00[ASN][1000 genomes]
rs55813103	1.00[ASN][1000 genomes]
rs56021640	1.00[ASN][1000 genomes]
rs56132015	1.00[ASN][1000 genomes]
rs56273868	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	1.00[ASN][1000 genomes]
rs56287413	1.00[ASN][1000 genomes]
rs56376224	1.00[ASN][1000 genomes]
rs56393994	1.00[ASN][1000 genomes]
rs56413126	1.00[ASN][1000 genomes]
rs57188228	1.00[ASN][1000 genomes]
rs57665417	1.00[ASN][1000 genomes]
rs59142558	1.00[ASN][1000 genomes]
rs59344953	1.00[ASN][1000 genomes]
rs59371106	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60954252	1.00[ASN][1000 genomes]
rs61009175	1.00[ASN][1000 genomes]
rs61405107	1.00[ASN][1000 genomes]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281517	1.00[ASN][1000 genomes]
rs73281521	1.00[ASN][1000 genomes]
rs73281523	1.00[ASN][1000 genomes]
rs73281527	1.00[ASN][1000 genomes]
rs73281529	1.00[ASN][1000 genomes]
rs73281530	1.00[ASN][1000 genomes]
rs73281532	1.00[ASN][1000 genomes]
rs73281538	1.00[ASN][1000 genomes]
rs73281546	1.00[ASN][1000 genomes]
rs73281548	1.00[ASN][1000 genomes]
rs73281550	1.00[ASN][1000 genomes]
rs73281551	1.00[ASN][1000 genomes]
rs73281554	1.00[ASN][1000 genomes]
rs73281562	1.00[ASN][1000 genomes]
rs73281563	1.00[ASN][1000 genomes]
rs73281570	1.00[ASN][1000 genomes]
rs7793815	1.00[ASN][1000 genomes]
rs7793849	1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	1.00[ASN][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	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
6	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	esv3341117	chr7:26191052-26193600	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3392243	chr7:26191177-26193275	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26184600-26191200	Weak transcription	A549	lung
2	chr7:26187200-26191200	Weak transcription	Gastric	stomach
3	chr7:26187200-26191400	Weak transcription	Lung	lung
4	chr7:26189400-26191400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:26190000-26191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:26190000-26191800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:26190200-26191200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:26190400-26191200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:26190400-26191200	Enhancers	K562	blood
10	chr7:26190600-26191200	Enhancers	Primary T cells from cord blood	blood
11	chr7:26190600-26191200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:26190600-26191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:26190600-26191200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:26190600-26191200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr7:26190600-26191200	Enhancers	Fetal Thymus	thymus
16	chr7:26190600-26191200	Bivalent Enhancer	HepG2	liver
17	chr7:26190600-26191400	Enhancers	Brain Substantia Nigra	brain
18	chr7:26190600-26191400	Enhancers	Spleen	Spleen
19	chr7:26190800-26191200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:26190800-26191200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:26190800-26191200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:26190800-26191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:26190800-26191200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:26190800-26191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:26190800-26191200	Enhancers	HSMM	muscle
26	chr7:26190800-26191200	Bivalent Enhancer	Osteobl	bone
27	chr7:26190800-26191400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:26190800-26191400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:26190800-26191400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:26190800-26191600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:26190800-26191600	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:26190800-26191800	Bivalent Enhancer	Fetal Brain Male	brain
33	chr7:26191000-26191200	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:26191000-26191200	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:26191000-26191200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:26191000-26191200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:26191000-26191200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:26191000-26191200	Enhancers	Adipose Nuclei	Adipose
39	chr7:26191000-26191200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
40	chr7:26191000-26191200	Enhancers	Colonic Mucosa	Colon
41	chr7:26191000-26191200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:26191000-26191200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:26191000-26191200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:26191000-26191200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr7:26191000-26191400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:26191000-26191400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:26191000-26191400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr7:26191000-26191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:26191000-26191400	Bivalent Enhancer	Fetal Brain Female	brain
50	chr7:26191000-26191400	Bivalent Enhancer	Fetal Intestine Small	intestine

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