Variant report

Variant	rs12068100
Chromosome Location	chr1:174934067-174934068
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:174933624-174934357	GM12878	blood:	n/a	n/a
2	JUND	chr1:174933577-174935354	K562	blood:	n/a	chr1:174934881-174934892
3	ZNF384	chr1:174933638-174934375	K562	blood:	n/a	n/a
4	CEBPD	chr1:174933465-174934635	K562	blood:	n/a	chr1:174933696-174933707
5	GATA1	chr1:174933404-174935094	PBDE	blood:	n/a	chr1:174934268-174934277
6	EP300	chr1:174933486-174934103	GM12878	blood:	n/a	n/a
7	TAL1	chr1:174933573-174934267	K562	blood:	n/a	n/a
8	NR2F2	chr1:174933331-174934067	K562	blood:	n/a	n/a
9	IRF1	chr1:174933280-174935009	K562	blood:	n/a	chr1:174933549-174933563
10	RUNX3	chr1:174933580-174934418	GM12878	blood:	n/a	n/a
11	ZMIZ1	chr1:174933591-174934439	K562	blood:	n/a	n/a
12	EP300	chr1:174933695-174934149	GM12878	blood:	n/a	n/a
13	RUNX3	chr1:174933649-174934100	GM12878	blood:	n/a	n/a
14	ZNF143	chr1:174933507-174934456	K562	blood:	n/a	n/a
15	ARID3A	chr1:174933494-174934571	K562	blood:	n/a	chr1:174933521-174933537
16	POLR2A	chr1:174933579-174935083	PBDE	blood:	n/a	n/a
17	SMARCB1	chr1:174932813-174935258	K562	blood:	n/a	n/a
18	MYC	chr1:174933590-174934588	NB4	blood:	n/a	n/a
19	KAP1	chr1:174933740-174934451	K562	blood:	n/a	n/a
20	RCOR1	chr1:174933542-174934992	K562	blood:	n/a	n/a
21	CHD1	chr1:174933619-174934551	GM12878	blood:	n/a	n/a
22	NR2F2	chr1:174932392-174935014	K562	blood:	n/a	n/a
23	TEAD4	chr1:174933478-174934141	K562	blood:	n/a	n/a
24	UBTF	chr1:174933613-174934984	K562	blood:	n/a	n/a
25	CBX3	chr1:174933437-174934613	K562	blood:	n/a	n/a
26	EP300	chr1:174933501-174935270	K562	blood:	n/a	n/a
27	CEBPB	chr1:174933397-174934070	K562	blood:	n/a	n/a
28	TBP	chr1:174933400-174934441	K562	blood:	n/a	n/a
29	BHLHE40	chr1:174933472-174935035	K562	blood:	n/a	n/a
30	CCNT2	chr1:174933332-174934608	K562	blood:	n/a	n/a
31	POLR2A	chr1:174933451-174934079	K562	blood:	n/a	n/a
32	POLR2A	chr1:174933717-174934556	GM12878	blood:	n/a	n/a
33	MAFK	chr1:174933516-174935046	K562	blood:	n/a	chr1:174933800-174933811
34	POLR2A	chr1:174934062-174934892	H1-hESC	embryonic stem cell:	n/a	n/a
35	TBL1XR1	chr1:174933519-174934501	K562	blood:	n/a	n/a
36	MXI1	chr1:174933628-174934572	GM12878	blood:	n/a	n/a
37	PML	chr1:174933486-174934516	K562	blood:	n/a	n/a
38	ZNF384	chr1:174933963-174934329	GM12878	blood:	n/a	n/a
39	CUX1	chr1:174933395-174935192	K562	blood:	n/a	n/a
40	TEAD4	chr1:174933338-174935083	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174932689..174934966-chr1:174943606..174946963,3	K562	blood:
2	chr1:174933583..174936463-chr1:174967523..174970706,3	MCF-7	breast:
3	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:
4	chr1:174932418..174935374-chr1:174964535..174970014,5	K562	blood:

No data

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000252552	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1002125	0.84[AFR][1000 genomes]
rs10489333	0.84[AFR][1000 genomes]
rs12058943	0.90[AFR][1000 genomes]
rs12073786	1.00[AFR][1000 genomes]
rs12074821	0.83[AFR][1000 genomes]
rs12081066	0.81[AFR][1000 genomes]
rs12087196	0.84[AFR][1000 genomes]
rs12562194	0.84[AFR][1000 genomes]
rs12565944	0.84[AFR][1000 genomes]
rs16847633	0.88[AFR][1000 genomes]
rs16847706	0.84[AFR][1000 genomes]
rs16847739	0.81[AFR][1000 genomes]
rs2285209	0.84[AFR][1000 genomes]
rs28660133	0.83[AFR][1000 genomes]
rs41266068	0.84[AFR][1000 genomes]
rs61828151	0.84[AFR][1000 genomes]
rs61828152	0.83[AFR][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
4	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
5	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
7	chr1:174925000-174934400	Weak transcription	Pancreas	Pancrea
8	chr1:174925000-174940800	Weak transcription	Gastric	stomach
9	chr1:174927800-174934400	Weak transcription	Right Atrium	heart
10	chr1:174928000-174934200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:174928000-174938200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:174928400-174934200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:174930800-174934200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:174930800-174937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:174931800-174935200	Enhancers	GM12878-XiMat	blood
16	chr1:174932000-174938400	Enhancers	Fetal Intestine Small	intestine
17	chr1:174932400-174934200	Enhancers	Liver	Liver
18	chr1:174932400-174934200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:174932400-174934600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:174932400-174935000	Enhancers	Hela-S3	cervix
21	chr1:174932400-174935000	Enhancers	HSMM	muscle
22	chr1:174932400-174935200	Enhancers	Fetal Stomach	stomach
23	chr1:174932400-174935200	Enhancers	Small Intestine	intestine
24	chr1:174932400-174936600	Enhancers	Fetal Lung	lung
25	chr1:174932600-174935400	Enhancers	Stomach Mucosa	stomach
26	chr1:174932600-174941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:174932800-174934200	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:174932800-174934200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:174932800-174934400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:174932800-174935000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:174932800-174935200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:174932800-174937000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:174932800-174937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:174932800-174938400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:174932800-174939000	Enhancers	Fetal Intestine Large	intestine
36	chr1:174933000-174935000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:174933000-174935200	Enhancers	Fetal Muscle Leg	muscle
38	chr1:174933000-174935400	Flanking Active TSS	K562	blood
39	chr1:174933000-174936000	Enhancers	Brain Anterior Caudate	brain
40	chr1:174933000-174953600	Weak transcription	Fetal Heart	heart
41	chr1:174933200-174934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:174933200-174935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:174933200-174935800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:174933200-174936000	Enhancers	NHEK	skin
45	chr1:174933400-174934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:174933400-174935000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:174933400-174935000	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:174933400-174935000	Enhancers	Fetal Thymus	thymus
49	chr1:174933400-174935200	Active TSS	Ovary	ovary
50	chr1:174933400-174935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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