Variant report

Variant	rs7587367
Chromosome Location	chr2:46773515-46773516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:46770477-46777171	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46773314..46775192-chr2:47402106..47404566,2	K562	blood:
2	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
3	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:

Variant related genes	Relation type
ATP6V1E2	TF binding region
ENSG00000151665	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1868844	0.89[AFR][1000 genomes]
rs3754553	0.86[AFR][1000 genomes]
rs56059578	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60604300	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7587367	ATP6V1E2	cis	Artery Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771000-46774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:46771000-46776600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:46771000-46781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:46771200-46774200	Weak transcription	Liver	Liver
5	chr2:46771200-46774200	Weak transcription	Esophagus	oesophagus
6	chr2:46771200-46774400	Weak transcription	Ovary	ovary
7	chr2:46771200-46774400	Weak transcription	Thymus	Thymus
8	chr2:46771200-46774600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:46771200-46774800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:46771200-46778000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:46771200-46780000	Enhancers	Psoas Muscle	Psoas
12	chr2:46771200-46781400	Weak transcription	NHEK	skin
13	chr2:46771200-46781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:46771200-46781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:46771400-46774000	Weak transcription	Small Intestine	intestine
17	chr2:46771400-46774400	Weak transcription	Pancreas	Pancrea
18	chr2:46771400-46774800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:46771400-46777000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:46771400-46778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:46771400-46780000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr2:46771400-46781600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
25	chr2:46771600-46773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:46771600-46773800	Weak transcription	HepG2	liver
27	chr2:46771600-46774000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:46771600-46774200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:46771600-46774600	Weak transcription	Fetal Brain Female	brain
30	chr2:46771600-46777000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:46771600-46781600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:46771600-46781600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:46771800-46773600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:46771800-46774000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:46771800-46774000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:46771800-46774000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:46771800-46774200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:46771800-46774200	Weak transcription	Placenta	Placenta
39	chr2:46771800-46774200	Weak transcription	HSMM	muscle
40	chr2:46771800-46774400	Weak transcription	Brain Germinal Matrix	brain
41	chr2:46771800-46774800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:46771800-46775400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:46771800-46777000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:46771800-46777000	Enhancers	Brain Angular Gyrus	brain
45	chr2:46771800-46777600	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:46771800-46780000	Enhancers	Right Atrium	heart
47	chr2:46771800-46781400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:46771800-46781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:46771800-46781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:46771800-46782000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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