Variant report

Variant	rs7811270
Chromosome Location	chr7:56139990-56139991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56139752-56140112	A549	lung:	n/a	n/a
2	CEBPB	chr7:56139763-56140114	IMR90	lung:	n/a	n/a
3	CEBPB	chr7:56139758-56140063	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:56139830-56140067	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:56139879-56140015	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr7:56139761-56140036	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56119174..56121015-chr7:56139907..56143557,3	MCF-7	breast:
2	chr7:56139442..56142282-chr7:56145954..56148779,2	MCF-7	breast:
3	chr7:56132081..56135205-chr7:56137628..56140599,3	K562	blood:
4	chr7:56139457..56142087-chr7:56158811..56160685,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUMF2	TF binding region
ENSG00000146733	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000164776	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10081373	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10255049	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11238389	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11771788	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537943	0.91[ASN][1000 genomes]
rs12669623	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240915	0.88[ASN][1000 genomes]
rs13241866	0.88[ASN][1000 genomes]
rs13244654	0.95[ASN][1000 genomes]
rs2002651	0.94[ASN][1000 genomes]
rs2016724	0.92[ASN][1000 genomes]
rs2230197	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242508	0.93[ASN][1000 genomes]
rs2538047	0.89[ASN][1000 genomes]
rs3735665	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4049337	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4275190	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947534	0.81[ASN][1000 genomes]
rs4948102	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4948104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62457261	0.80[ASN][1000 genomes]
rs6593297	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6954546	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6955423	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6958480	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6966609	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6973917	0.82[ASN][1000 genomes]
rs6975311	0.82[ASN][1000 genomes]
rs766333	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7776550	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7793921	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7801467	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811755	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9767946	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7811270	CHCHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56131800-56146800	Weak transcription	Fetal Heart	heart
2	chr7:56132400-56141800	Weak transcription	Stomach Mucosa	stomach
3	chr7:56132400-56145400	Weak transcription	Spleen	Spleen
4	chr7:56133200-56140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:56133200-56141800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:56133200-56141800	Weak transcription	HepG2	liver
7	chr7:56133200-56142000	Weak transcription	Esophagus	oesophagus
8	chr7:56133200-56142200	Weak transcription	Right Atrium	heart
9	chr7:56133200-56145600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:56133200-56146400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:56133200-56147000	Weak transcription	Fetal Brain Male	brain
12	chr7:56133200-56147000	Weak transcription	Psoas Muscle	Psoas
13	chr7:56133400-56144200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:56133400-56145800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:56133600-56141800	Weak transcription	HUVEC	blood vessel
16	chr7:56133600-56144200	Weak transcription	NHDF-Ad	bronchial
17	chr7:56133600-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:56133800-56141800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:56133800-56142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:56133800-56143200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:56134000-56141800	Weak transcription	NHLF	lung
22	chr7:56134000-56152000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
25	chr7:56134600-56141200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:56134800-56141000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:56135000-56141600	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:56135000-56141800	Strong transcription	Fetal Intestine Small	intestine
29	chr7:56135000-56142600	Strong transcription	Fetal Stomach	stomach
30	chr7:56135400-56141000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:56135800-56141000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:56135800-56141800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:56136000-56140000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr7:56136000-56141000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:56136000-56141000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:56136000-56141000	Strong transcription	Liver	Liver
37	chr7:56136000-56141000	Strong transcription	Thymus	Thymus
38	chr7:56136000-56141200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:56136000-56141200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:56136000-56141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:56136000-56142200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:56136200-56141000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:56136200-56141000	Strong transcription	Ovary	ovary
44	chr7:56136200-56141200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:56136200-56141600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:56136200-56142000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:56136200-56142000	Strong transcription	Fetal Brain Female	brain
48	chr7:56137000-56141600	Weak transcription	K562	blood
49	chr7:56137200-56146000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:56137600-56140600	Weak transcription	Rectal Smooth Muscle	rectum

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