Variant report

Variant	rs7355031
Chromosome Location	chr1:210548266-210548267
allele	C/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	ARID3A	chr1:210546843-210548301	HepG2	liver:	n/a	n/a
2	CTCF	chr1:210547560-210548375	IMR90	lung:	n/a	chr1:210547883-210547901 chr1:210547885-210547906 chr1:210547888-210547898 chr1:210547886-210547895 chr1:210547884-210547900
3	RFX5	chr1:210548195-210548376	HepG2	liver:	n/a	n/a
4	STAT1	chr1:210546570-210548345	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr1:210546442-210548306	A549	lung:	n/a	n/a
6	STAT3	chr1:210547014-210548317	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr1:210547507-210548294	HCT-116	colon:	n/a	chr1:210547883-210547901 chr1:210547885-210547906 chr1:210547888-210547898 chr1:210547886-210547895 chr1:210547884-210547900
8	CTCF	chr1:210548260-210548410	HEEpiC	esophagus:	n/a	n/a
9	ZNF143	chr1:210547215-210548318	GM12878	blood:	n/a	chr1:210547800-210547815
10	GATA3	chr1:210546866-210548316	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr1:210546984-210548566	SK-N-SH	brain:	n/a	chr1:210547885-210547899
12	SRF	chr1:210547137-210548274	HCT-116	colon:	n/a	n/a
13	CTCF	chr1:210547327-210548614	SK-N-SH	brain:	n/a	chr1:210547883-210547901 chr1:210547885-210547906 chr1:210547888-210547898 chr1:210547886-210547895 chr1:210547884-210547900
14	TBP	chr1:210546858-210548320	GM12878	blood:	n/a	n/a
15	CTCF	chr1:210546719-210548351	A549	lung:	n/a	chr1:210547883-210547901 chr1:210547885-210547906 chr1:210547888-210547898 chr1:210547886-210547895 chr1:210547884-210547900
16	CTCF	chr1:210548220-210548370	GM12864	blood:	n/a	n/a
17	CTCF	chr1:210548140-210548290	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210545931..210548726-chr1:211432289..211435093,3	K562	blood:
2	chr1:45186179..45189158-chr1:210547543..210549064,6	K562	blood:
3	chr1:210547897..210548414-chr1:210556837..210557503,2	K562	blood:
4	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
5	chr1:210546586..210548937-chr14:75987958..75990203,2	MCF-7	breast:
6	chr1:209999396..210002885-chr1:210546190..210548808,3	K562	blood:
7	chr1:210547837..210548362-chr1:210573678..210574548,3	MCF-7	breast:
8	chr1:210533834..210534624-chr1:210547790..210548293,2	MCF-7	breast:
9	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
10	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:
11	chr1:210546248..210548847-chr6:26026760..26029454,2	K562	blood:
12	chr1:45185360..45189158-chr1:210547543..210549064,10	K562	blood:
13	chr1:210546241..210548615-chr8:134583124..134585653,3	MCF-7	breast:
14	chr1:210545562..210548349-chr17:56736330..56737949,2	MCF-7	breast:
15	chr1:210544365..210549030-chr17:57921951..57926330,6	MCF-7	breast:
16	chr1:210498783..210502429-chr1:210544443..210548917,7	MCF-7	breast:
17	chr1:210440061..210443825-chr1:210546593..210548992,3	MCF-7	breast:
18	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
19	chr1:209979052..209983681-chr1:210545344..210549112,5	K562	blood:
20	chr1:210411288..210415532-chr1:210545845..210548643,6	MCF-7	breast:
21	chr1:210497683..210507034-chr1:210544536..210549319,22	MCF-7	breast:
22	chr1:210546747..210548989-chr1:211307016..211309989,4	MCF-7	breast:
23	chr1:210546975..210548886-chr1:212457780..212460319,2	MCF-7	breast:
24	chr1:209977687..209979481-chr1:210546829..210548447,2	MCF-7	breast:
25	chr1:210546745..210548327-chr2:20646450..20647213,4	Hela-S3	cervix:
26	chr1:210499300..210503346-chr1:210545682..210548805,5	K562	blood:
27	chr1:210548070..210550823-chr1:211662060..211664424,2	K562	blood:
28	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:

Variant related genes	Relation type
RNU5A-8P	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000054392	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000117595	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000228110	Chromatin interaction
ENSG00000117597	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000143473	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000156127	Chromatin interaction
ENSG00000261220	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12140650	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12729428	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357583	0.83[ASN][1000 genomes]
rs3765872	0.83[ASN][1000 genomes]
rs60935759	0.81[ASN][1000 genomes]
rs6656628	0.83[ASN][1000 genomes]
rs6672972	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7354957	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210536800-210551000	Weak transcription	Right Ventricle	heart
3	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
4	chr1:210537000-210550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
6	chr1:210540800-210549600	Weak transcription	HSMMtube	muscle
7	chr1:210541000-210550000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:210543200-210549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:210543200-210555800	Weak transcription	Right Atrium	heart
10	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:210543400-210551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210545400-210548600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:210545800-210548800	Enhancers	NHDF-Ad	bronchial
14	chr1:210546000-210550200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:210546400-210549200	Enhancers	Osteobl	bone
16	chr1:210546600-210548400	Enhancers	NHEK	skin
17	chr1:210546600-210548600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:210546800-210548400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:210546800-210548400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:210546800-210548400	Enhancers	HUVEC	blood vessel
22	chr1:210546800-210548400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:210546800-210548400	Enhancers	NH-A	brain
24	chr1:210546800-210548600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:210547000-210548400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:210547000-210548600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:210547200-210548400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:210547200-210548600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:210547200-210549800	Weak transcription	NHLF	lung
30	chr1:210547200-210550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:210547200-210550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:210547200-210550400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:210547200-210550800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:210547400-210548600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:210547400-210549600	Enhancers	Liver	Liver
36	chr1:210547400-210549800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:210547600-210548400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:210547600-210555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:210547800-210548400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:210547800-210548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:210547800-210548400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:210547800-210548400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:210547800-210548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:210547800-210548600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:210547800-210548600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:210547800-210548600	Enhancers	HepG2	liver
47	chr1:210547800-210548800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:210547800-210550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:210548000-210548400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:210548000-210548400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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