Variant report

Variant	rs2738750
Chromosome Location	chr1:221050400-221050401
allele	A/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	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:221049811-221050512	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:221049883-221050502	HUVEC	blood vessel:	n/a	n/a
5	SUZ12	chr1:221048843-221052557	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr1:221050359-221052771	H1-neurons	neurons:	n/a	n/a
7	SPI1	chr1:221049911-221050459	HL-60	blood:	n/a	chr1:221050141-221050154 chr1:221050144-221050153 chr1:221050141-221050154 chr1:221050142-221050155
8	YY1	chr1:221050306-221050948	H1-hESC	embryonic stem cell:	n/a	chr1:221050847-221050861 chr1:221050447-221050456 chr1:221050444-221050453 chr1:221050445-221050456
9	POLR2A	chr1:221049946-221050417	HUVEC	blood vessel:	n/a	n/a
10	SPI1	chr1:221049817-221050514	HL-60	blood:	n/a	chr1:221050141-221050154 chr1:221050144-221050153 chr1:221050141-221050154 chr1:221050142-221050155
11	CTCF	chr1:221050400-221050550	HUVEC	blood vessel:	n/a	chr1:221050406-221050419
12	MAX	chr1:221049808-221051018	NB4	blood:	n/a	chr1:221049876-221049885
13	POLR2A	chr1:221049950-221050414	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:221047152-221053823	HUVEC	blood vessel:	n/a	n/a
15	SIN3A	chr1:221050033-221051340	H1-hESC	embryonic stem cell:	n/a	chr1:221050490-221050499
16	POLR2A	chr1:221049868-221051109	HL-60	blood:	n/a	n/a
17	SUZ12	chr1:221050249-221051226	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr1:221049767-221050425	HUVEC	blood vessel:	n/a	chr1:221050110-221050127 chr1:221049851-221049861
19	REST	chr1:221049907-221051099	HL-60	blood:	n/a	chr1:221050348-221050366
20	POLR2A	chr1:221050386-221055418	H1-neurons	neurons:	n/a	n/a
21	CTCF	chr1:221050300-221050450	HCPEpiC	choroid plexus:	n/a	chr1:221050406-221050419
22	EGR1	chr1:221050362-221051017	H1-hESC	embryonic stem cell:	n/a	chr1:221050439-221050452 chr1:221050447-221050457 chr1:221050442-221050452 chr1:221050439-221050452

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221040805..221043274-chr1:221048316..221050873,2	K562	blood:

Variant related genes	Relation type
HLX	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2050525	0.85[AFR][1000 genomes]
rs2738749	0.83[AFR][1000 genomes]
rs2784251	0.85[AFR][1000 genomes]
rs2784253	0.86[AFR][1000 genomes]
rs2807860	0.85[AFR][1000 genomes]
rs2807863	0.85[AFR][1000 genomes]
rs2807865	0.84[AFR][1000 genomes]
rs867027	0.84[AFR][1000 genomes]
rs868058	0.83[AFR][1000 genomes]
rs949839	0.84[AFR][1000 genomes]
rs949840	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221040800-221050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:221044600-221051200	Weak transcription	Osteobl	bone
3	chr1:221046000-221051800	Weak transcription	Pancreas	Pancrea
4	chr1:221046800-221050600	Weak transcription	Spleen	Spleen
5	chr1:221047800-221051400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221047800-221051800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:221048000-221050400	Weak transcription	Colonic Mucosa	Colon
8	chr1:221048000-221050400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:221048000-221050600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:221048000-221050600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:221048000-221050600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:221048000-221051400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:221048000-221051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:221048000-221051800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:221048000-221052000	Weak transcription	A549	lung
16	chr1:221048200-221050600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:221048400-221052000	Weak transcription	HSMMtube	muscle
18	chr1:221049000-221053800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:221049400-221052600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:221049600-221050400	Active TSS	Primary B cells from cord blood	blood
21	chr1:221049600-221050800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:221049600-221050800	Active TSS	Adipose Nuclei	Adipose
23	chr1:221049600-221051000	Weak transcription	Liver	Liver
24	chr1:221049600-221051000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:221049600-221052600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:221049600-221052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:221049600-221052800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:221049800-221050400	Enhancers	Lung	lung
30	chr1:221049800-221050400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:221049800-221050800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr1:221049800-221051000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr1:221049800-221051000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr1:221049800-221051400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr1:221049800-221052600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:221049800-221055400	Active TSS	Right Atrium	heart
37	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:221050000-221050400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:221050000-221050600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:221050000-221050600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr1:221050000-221050800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:221050000-221050800	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:221050000-221051000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:221050000-221051000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:221050000-221051200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:221050000-221051800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
48	chr1:221050200-221050400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:221050200-221050400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr1:221050200-221050400	Bivalent Enhancer	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links