Variant report

Variant	rs6668850
Chromosome Location	chr1:150521099-150521100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:150520825-150521775	K562	blood:	n/a	n/a
2	RCOR1	chr1:150520942-150522069	K562	blood:	n/a	n/a
3	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
4	RCOR1	chr1:150520919-150521973	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
6	HEY1	chr1:150521007-150522178	K562	blood:	n/a	chr1:150521994-150522009
7	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
8	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
9	RAD21	chr1:150521047-150521330	Hela-S3	cervix:	n/a	n/a
10	MAX	chr1:150520899-150521917	MCF-7	breast:	n/a	n/a
11	HA-E2F1	chr1:150521097-150521585	MCF-7	breast:	n/a	chr1:150521427-150521437
12	GTF2F1	chr1:150521086-150521742	K562	blood:	n/a	n/a
13	MAX	chr1:150521010-150521778	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
15	MYC	chr1:150521087-150522110	K562	blood:	n/a	n/a
16	KAP1	chr1:150521048-150521483	U2OS	brain:	n/a	n/a
17	POLR2A	chr1:150521043-150522056	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
19	ZNF384	chr1:150521094-150521456	K562	blood:	n/a	n/a
20	MAX	chr1:150520900-150521699	SK-N-SH	brain:	n/a	n/a
21	TAL1	chr1:150521046-150521175	K562	blood:	n/a	n/a
22	FOS	chr1:150521047-150521264	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr1:150521025-150522032	K562	blood:	n/a	chr1:150521300-150521310 chr1:150521300-150521310
24	POLR2A	chr1:150521060-150522089	HCT-116	colon:	n/a	n/a
25	USF2	chr1:150521086-150521314	Hela-S3	cervix:	n/a	n/a
26	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
27	UBTF	chr1:150521054-150522220	K562	blood:	n/a	n/a
28	MAX	chr1:150520957-150521819	ECC-1	luminal epithelium:	n/a	n/a
29	BRCA1	chr1:150521046-150521574	Hela-S3	cervix:	n/a	n/a
30	BHLHE40	chr1:150521045-150522329	K562	blood:	n/a	n/a
31	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
32	MAX	chr1:150521087-150521916	NB4	blood:	n/a	n/a
33	POLR2A	chr1:150520969-150522210	PFSK-1	brain:	n/a	n/a
34	EP300	chr1:150520978-150521126	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
36	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
37	ZMIZ1	chr1:150521072-150521506	K562	blood:	n/a	n/a
38	POLR2A	chr1:150521048-150522797	K562	blood:	n/a	n/a
39	RFX5	chr1:150521097-150521618	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:150520989-150521987	K562	blood:	n/a	n/a
41	TBP	chr1:150520974-150521366	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr1:150521048-150521690	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:150520958-150521799	Hela-S3	cervix:	n/a	n/a
44	TCF12	chr1:150520849-150521790	A549	lung:	n/a	n/a
45	NR2F2	chr1:150520774-150521771	K562	blood:	n/a	n/a
46	POLR2A	chr1:150521011-150522265	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:150521038-150523632	K562	blood:	n/a	n/a
48	HEY1	chr1:150520954-150522395	K562	blood:	n/a	chr1:150521994-150522009
49	POLR2A	chr1:150520920-150525557	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr1:150520974-150523359	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150518651..150520158-chr1:150520276..150521871,2	MCF-7	breast:
2	chr1:150518754..150521132-chr1:150522250..150524935,2	MCF-7	breast:
3	chr1:150520959..150521729-chr3:64009113..64009945,2	MCF-7	breast:
4	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
5	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
6	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
7	chr1:150479220..150481120-chr1:150520088..150521820,2	K562	blood:
8	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
9	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
10	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf138-1	chr1:150521040-150521226	ENSG00000237781.1
2	lnc-C1orf138-1	chr1:150521040-150521226	ENSG00000237781.2

No data

Variant related genes	Relation type
ENSG00000225996	TF binding region
ADAMTSL4	TF binding region
MIR4257	TF binding region
ENSG00000228126	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000163125	Chromatin interaction

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

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

rs_ID	r²[population]
rs11580946	1.00[AMR][1000 genomes]
rs11582333	1.00[AMR][1000 genomes]
rs34647563	1.00[AMR][1000 genomes]
rs72700845	1.00[AMR][1000 genomes]
rs72700851	1.00[AMR][1000 genomes]

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	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:150520800-150521600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:150520800-150522200	Active TSS	Hela-S3	cervix
4	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:150520800-150523000	Active TSS	K562	blood
6	chr1:150521000-150521200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:150521000-150521200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr1:150521000-150521200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:150521000-150521200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:150521000-150521200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:150521000-150521200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:150521000-150521200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:150521000-150521200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr1:150521000-150521200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:150521000-150521200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
22	chr1:150521000-150521200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:150521000-150521200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr1:150521000-150521200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:150521000-150521200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr1:150521000-150521200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:150521000-150521200	Bivalent/Poised TSS	Fetal Brain Male	brain
28	chr1:150521000-150521200	Flanking Active TSS	Fetal Heart	heart
29	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
30	chr1:150521000-150521200	Flanking Active TSS	Fetal Stomach	stomach
31	chr1:150521000-150521200	Enhancers	Gastric	stomach
32	chr1:150521000-150521200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
33	chr1:150521000-150521200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:150521000-150521200	Bivalent/Poised TSS	Thymus	Thymus
35	chr1:150521000-150521200	Enhancers	Spleen	Spleen
36	chr1:150521000-150521200	Flanking Active TSS	A549	lung
37	chr1:150521000-150521200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr1:150521000-150521400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:150521000-150521400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr1:150521000-150521400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr1:150521000-150521400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr1:150521000-150521400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:150521000-150521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:150521000-150521400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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