Variant report

Variant	rs12758864
Chromosome Location	chr1:150522103-150522104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:150522024-150522194	K562	blood:	n/a	n/a
2	CTCF	chr1:150522100-150522250	K562	blood:	n/a	n/a
3	POLR2A	chr1:150521363-150522170	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr1:150521239-150522376	K562	blood:	n/a	n/a
5	POLR2A	chr1:150521182-150522151	ProgFib	skin:	n/a	n/a
6	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
7	MAZ	chr1:150522013-150522377	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr1:150521938-150522395	A549	lung:	n/a	n/a
10	HEY1	chr1:150521007-150522178	K562	blood:	n/a	chr1:150521994-150522009
11	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
12	NR2F2	chr1:150521821-150522610	K562	blood:	n/a	n/a
13	CTCF	chr1:150522100-150522250	HepG2	liver:	n/a	n/a
14	CTCF	chr1:150522100-150522250	HBMEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
16	GABPA	chr1:150521832-150522391	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr1:150521919-150522356	HepG2	liver:	n/a	n/a
18	CTCF	chr1:150522080-150522230	RPTEC	kidney:	n/a	n/a
19	CTCF	chr1:150522100-150522250	HRE	kidney:	n/a	n/a
20	CTCF	chr1:150522000-150522150	HFF	foreskin:	n/a	n/a
21	CTCF	chr1:150522060-150522210	HMEC	breast:	n/a	n/a
22	TAF1	chr1:150521341-150522216	K562	blood:	n/a	n/a
23	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
24	MYC	chr1:150521087-150522110	K562	blood:	n/a	n/a
25	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr1:150521992-150522258	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:150522100-150522250	AG10803	skin:	n/a	n/a
28	CTCF	chr1:150522084-150522283	HepG2	liver:	n/a	n/a
29	HNF4G	chr1:150522040-150522321	HepG2	liver:	n/a	chr1:150522176-150522189 chr1:150522176-150522189 chr1:150522175-150522190
30	ELF1	chr1:150521944-150522188	K562	blood:	n/a	chr1:150521994-150522006
31	POLR2A	chr1:150521822-150523160	PANC-1	pancreas:	n/a	n/a
32	TEAD4	chr1:150521911-150522316	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr1:150522003-150522305	HepG2	liver:	n/a	n/a
34	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
35	UBTF	chr1:150521054-150522220	K562	blood:	n/a	n/a
36	CTCF	chr1:150522100-150522250	HCFaa	heart:	n/a	n/a
37	CTCF	chr1:150522080-150522230	AG09319	gingival:	n/a	n/a
38	RAD21	chr1:150522067-150522320	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr1:150521276-150522391	K562	blood:	n/a	n/a
40	CTCF	chr1:150522060-150522210	AG09309	skin:	n/a	n/a
41	CTCF	chr1:150522060-150522210	HCM	heart:	n/a	n/a
42	BHLHE40	chr1:150521045-150522329	K562	blood:	n/a	n/a
43	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
44	POLR2A	chr1:150520969-150522210	PFSK-1	brain:	n/a	n/a
45	CTCF	chr1:150522100-150522250	RPTEC	kidney:	n/a	n/a
46	TEAD4	chr1:150521909-150522346	K562	blood:	n/a	n/a
47	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
48	E2F6	chr1:150521108-150522600	K562	blood:	n/a	chr1:150521427-150521437
49	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
50	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
2	chr1:78148599..78149427-chr1:150521664..150522241,2	Hela-S3	cervix:
3	chr1:28974550..28975376-chr1:150521802..150522571,2	Hela-S3	cervix:
4	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
5	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
6	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
7	chr1:150521664..150522336-chr6:26020248..26020914,2	Hela-S3	cervix:
8	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
9	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
10	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
11	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
12	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
13	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
MIR4257	TF binding region
ENSG00000271845	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000143420	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	esv3437004	chr1:150520753-150523301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150520800-150522200	Active TSS	Hela-S3	cervix
2	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:150520800-150523000	Active TSS	K562	blood
4	chr1:150521000-150522200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150521000-150522200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:150521000-150522200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:150521000-150522200	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr1:150521000-150522200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:150521000-150522200	Active TSS	Ovary	ovary
10	chr1:150521000-150522400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:150521000-150522400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:150521000-150522400	Active TSS	Brain Hippocampus Middle	brain
13	chr1:150521000-150522400	Active TSS	Psoas Muscle	Psoas
14	chr1:150521000-150522400	Active TSS	NHLF	lung
15	chr1:150521000-150522600	Active TSS	Colon Smooth Muscle	Colon
16	chr1:150521000-150522600	Active TSS	Right Atrium	heart
17	chr1:150521000-150522600	Active TSS	Small Intestine	intestine
18	chr1:150521000-150522800	Active TSS	Aorta	Aorta
19	chr1:150521000-150522800	Active TSS	HSMMtube	muscle
20	chr1:150521000-150523000	Active TSS	HSMM	muscle
21	chr1:150521000-150523200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:150521200-150522200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:150521200-150522200	Active TSS	Fetal Stomach	stomach
24	chr1:150521200-150522200	Active TSS	Gastric	stomach
25	chr1:150521200-150522200	Active TSS	Lung	lung
26	chr1:150521200-150522200	Active TSS	Placenta Amnion	Placenta Amnion
27	chr1:150521200-150522400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:150521200-150522400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:150521200-150522600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:150521200-150522600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:150521200-150522600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:150521200-150522600	Active TSS	Brain Substantia Nigra	brain
33	chr1:150521200-150522600	Active TSS	NHDF-Ad	bronchial
34	chr1:150521200-150524000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:150521400-150522200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:150521400-150522200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:150521400-150522200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:150521400-150522200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:150521400-150522200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:150521400-150522200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:150521400-150522200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:150521400-150522200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:150521400-150522200	Active TSS	Adipose Nuclei	Adipose
44	chr1:150521400-150522200	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:150521400-150522200	Active TSS	Placenta	Placenta
46	chr1:150521400-150522200	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:150521400-150522200	Active TSS	NHEK	skin
48	chr1:150521400-150522400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:150521400-150522400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:150521400-150522400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links