Variant report

Variant	rs57075265
Chromosome Location	chr1:78162073-78162074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78161787..78164582-chr1:78467867..78470552,2	K562	blood:
2	chr1:78160363..78163155-chr1:78169082..78170861,2	K562	blood:
3	chr1:78147553..78150192-chr1:78161515..78164116,3	MCF-7	breast:
4	chr1:78155245..78156889-chr1:78160678..78162771,2	K562	blood:
5	chr1:78161944..78164582-chr1:78468935..78470552,2	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1968027	0.96[ASN][1000 genomes]
rs278846	0.96[ASN][1000 genomes]
rs278853	0.90[ASN][1000 genomes]
rs61777140	0.81[ASN][1000 genomes]
rs9787306	0.81[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:78149800-78165600	Weak transcription	Esophagus	oesophagus
5	chr1:78149800-78165600	Weak transcription	Lung	lung
6	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
7	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
8	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
9	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
10	chr1:78150000-78163000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:78150000-78165200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:78150000-78166000	Weak transcription	HSMMtube	muscle
13	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
17	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:78150200-78170400	Weak transcription	HUVEC	blood vessel
20	chr1:78150200-78172600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:78150200-78173400	Weak transcription	HMEC	breast
22	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
23	chr1:78150400-78165000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:78150400-78165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:78150400-78172400	Weak transcription	Hela-S3	cervix
26	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:78150600-78165000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:78150800-78170400	Weak transcription	K562	blood
29	chr1:78151200-78165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:78151200-78165600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:78151200-78172400	Weak transcription	A549	lung
32	chr1:78151400-78172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:78153400-78165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:78153400-78175600	Weak transcription	HepG2	liver
35	chr1:78153600-78173600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:78153800-78165000	Weak transcription	Thymus	Thymus
37	chr1:78153800-78165400	Weak transcription	Fetal Kidney	kidney
38	chr1:78153800-78165600	Weak transcription	Ovary	ovary
39	chr1:78153800-78168200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:78153800-78173000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:78153800-78173000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:78153800-78173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:78153800-78173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:78153800-78174600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:78153800-78175400	Weak transcription	NHEK	skin
46	chr1:78153800-78177000	Weak transcription	Right Ventricle	heart
47	chr1:78153800-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:78154000-78165600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:78154000-78167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:78154000-78173600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links