Variant report

Variant	rs73035396
Chromosome Location	chr1:174843524-174843525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr1:174843518-174843928	GM12878	blood:	n/a	n/a
2	NFIC	chr1:174843395-174844072	GM12878	blood:	n/a	n/a
3	EP300	chr1:174843472-174843806	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:174843399-174844214	GM12878	blood:	n/a	n/a
5	MAX	chr1:174843309-174843944	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:174843391-174843920	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr1:174843347-174843755	H1-hESC	embryonic stem cell:	n/a	n/a
8	RUNX3	chr1:174843356-174844080	GM12878	blood:	n/a	n/a
9	BATF	chr1:174843400-174843710	GM12878	blood:	n/a	n/a
10	ELK1	chr1:174843428-174843603	GM12878	blood:	n/a	n/a
11	CHD1	chr1:174843481-174845792	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr1:174843334-174843761	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:174843473-174843689	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXM1	chr1:174843343-174844136	GM12878	blood:	n/a	n/a
15	TAF7	chr1:174843356-174843890	H1-hESC	embryonic stem cell:	n/a	n/a
16	RUNX3	chr1:174843303-174844277	GM12878	blood:	n/a	n/a
17	TBP	chr1:174843394-174844062	GM12878	blood:	n/a	n/a
18	SIN3A	chr1:174843321-174845223	H1-hESC	embryonic stem cell:	n/a	chr1:174844422-174844430
19	BATF	chr1:174843411-174843697	GM12878	blood:	n/a	n/a
20	BHLHE40	chr1:174843435-174843628	GM12878	blood:	n/a	n/a
21	RCOR1	chr1:174843359-174843739	GM12878	blood:	n/a	n/a
22	TAF1	chr1:174843428-174843915	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF384	chr1:174843521-174844157	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:174843508-174843628	Gliobla	brain:	n/a	n/a
25	MTA3	chr1:174843305-174843977	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr1:174843364-174844005	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr1:174843340-174843951	H1-hESC	embryonic stem cell:	n/a	n/a
28	IKZF1	chr1:174843362-174844152	GM12878	blood:	n/a	n/a
29	WRNIP1	chr1:174843520-174843859	GM12878	blood:	n/a	n/a
30	MXI1	chr1:174843399-174843976	GM12878	blood:	n/a	n/a
31	RAD21	chr1:174843419-174843807	H1-hESC	embryonic stem cell:	n/a	n/a
32	SPI1	chr1:174843399-174843678	GM12891	blood:	n/a	n/a
33	HDAC2	chr1:174843414-174843621	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:174843278-174844085	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr1:174843518-174843895	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBL1XR1	chr1:174843419-174843896	GM12878	blood:	n/a	n/a
37	TBP	chr1:174843328-174843886	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr1:174843334-174843702	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr1:174843390-174844195	H1-hESC	embryonic stem cell:	n/a	n/a
40	BCLAF1	chr1:174843308-174844256	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:174843389-174843945	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:174843370-174843904	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr1:174843400-174843934	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr1:174843416-174844083	GM12878	blood:	n/a	n/a
45	NFIC	chr1:174842929-174844751	GM12878	blood:	n/a	n/a
46	GTF2F1	chr1:174843414-174843729	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:174838711..174843709-chr1:174844718..174847483,6	K562	blood:
2	chr1:174838028..174843892-chr1:174965943..174969167,5	K562	blood:
3	chr1:174840446..174846237-chr1:174965266..174970099,5	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs57288772	0.92[AFR][1000 genomes]
rs58363175	0.92[AFR][1000 genomes]
rs59390821	1.00[AFR][1000 genomes]
rs61434106	1.00[AFR][1000 genomes]
rs73028402	1.00[AFR][1000 genomes]
rs73030312	1.00[AFR][1000 genomes]
rs73035390	1.00[AFR][1000 genomes]
rs73037331	0.85[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174819200-174843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:174836800-174843600	Weak transcription	Left Ventricle	heart
3	chr1:174838600-174847400	Weak transcription	Esophagus	oesophagus
4	chr1:174840000-174843600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:174840600-174846200	Enhancers	K562	blood
6	chr1:174840600-174846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:174841400-174846400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:174842000-174846600	Weak transcription	HSMMtube	muscle
9	chr1:174842200-174843600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:174842200-174844200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:174842200-174844400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:174843000-174843600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:174843000-174843600	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:174843200-174843600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:174843200-174846400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:174843200-174846400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:174843200-174847000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:174843200-174847400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:174843400-174843600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:174843400-174843600	Active TSS	Primary hematopoietic stem cells	blood
21	chr1:174843400-174843600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:174843400-174843600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:174843400-174843600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:174843400-174843600	Enhancers	Stomach Mucosa	stomach
25	chr1:174843400-174843800	Active TSS	Primary B cells from peripheral blood	blood
26	chr1:174843400-174844000	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr1:174843400-174844000	Active TSS	Liver	Liver
28	chr1:174843400-174844000	Active TSS	Fetal Lung	lung
29	chr1:174843400-174844000	Active TSS	Placenta	Placenta
30	chr1:174843400-174844000	Active TSS	Pancreas	Pancrea
31	chr1:174843400-174844200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:174843400-174844200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:174843400-174844200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:174843400-174844200	Active TSS	Adipose Nuclei	Adipose
35	chr1:174843400-174844600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:174843400-174844800	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:174843400-174845200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:174843400-174845200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:174843400-174845200	Active TSS	Rectal Smooth Muscle	rectum
40	chr1:174843400-174845400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:174843400-174845600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:174843400-174846000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr1:174843400-174846000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:174843400-174846000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:174843400-174846200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:174843400-174846400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:174843400-174846400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:174843400-174846400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:174843400-174846600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:174843400-174846600	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