Variant report

Variant	rs596793
Chromosome Location	chr1:70905983-70905984
allele	A/G
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	chr1:70905812-70910297	K562	blood:	n/a	n/a
2	POLR2A	chr1:70905929-70907115	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70876810..70879492-chr1:70904587..70906471,2	K562	blood:
2	chr1:70904980..70906674-chr1:70909972..70911804,2	K562	blood:

Variant related genes	Relation type
ENSG00000271992	TF binding region
ENSG00000116761	Chromatin interaction
ENSG00000271992	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1145920	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12023001	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2182829	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3856027	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs475263	0.82[ASN][1000 genomes]
rs481654	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501939	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs525276	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs543860	0.92[ASN][1000 genomes]
rs546503	0.81[ASN][1000 genomes]
rs559062	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608609	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70877400-70906400	Weak transcription	Small Intestine	intestine
2	chr1:70877400-70906600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
6	chr1:70878200-70909600	Weak transcription	Gastric	stomach
7	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:70878600-70906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:70884400-70909000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:70886400-70906600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:70886400-70906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:70888000-70906000	Weak transcription	Fetal Brain Male	brain
13	chr1:70891400-70907400	Weak transcription	Fetal Stomach	stomach
14	chr1:70892200-70907400	Weak transcription	Fetal Brain Female	brain
15	chr1:70892400-70906400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:70892600-70906200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr1:70893200-70907800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:70894000-70906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:70894400-70906600	Weak transcription	Fetal Heart	heart
20	chr1:70895400-70906200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:70895400-70907000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:70895800-70912000	Weak transcription	Hela-S3	cervix
23	chr1:70897000-70909600	Weak transcription	Pancreas	Pancrea
24	chr1:70898000-70907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:70898200-70906200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:70898200-70907400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:70898200-70908600	Strong transcription	Liver	Liver
28	chr1:70898400-70908000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:70899600-70906200	Weak transcription	GM12878-XiMat	blood
30	chr1:70899600-70906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:70899600-70906800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:70899600-70908000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:70900000-70906400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:70900000-70906600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:70900000-70906800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:70900000-70907800	Weak transcription	Brain Angular Gyrus	brain
37	chr1:70900200-70906400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:70900200-70906400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:70900200-70907200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:70900200-70913800	Weak transcription	Dnd41	blood
41	chr1:70900200-70914800	Weak transcription	K562	blood
42	chr1:70900400-70906000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:70900400-70908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:70901200-70906000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:70901600-70906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:70901600-70906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:70901600-70906600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:70901800-70906800	Weak transcription	Fetal Intestine Large	intestine
49	chr1:70902000-70906000	Weak transcription	Fetal Lung	lung
50	chr1:70902000-70906400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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