Variant report

Variant	rs2087795
Chromosome Location	chr1:224358761-224358762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:224358233-224358896	A549	lung:	n/a	n/a
2	CTCF	chr1:224358390-224358786	MCF-7	breast:	n/a	n/a
3	RAD21	chr1:224358242-224358870	MCF-7	breast:	n/a	n/a
4	CEBPB	chr1:224358421-224358805	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:224358700-224358850	AG04450	lung:	n/a	n/a
6	RAD21	chr1:224358371-224358767	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr1:224358252-224359245	K562	blood:	n/a	n/a
8	JUND	chr1:224358745-224359235	SK-N-SH	brain:	n/a	chr1:224359086-224359097
9	RAD21	chr1:224358321-224358824	MCF-7	breast:	n/a	n/a
10	TRIM28	chr1:224358733-224359326	K562	blood:	n/a	n/a
11	RAD21	chr1:224358402-224358778	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr1:224358705-224359299	K562	blood:	n/a	n/a
13	RAD21	chr1:224358300-224358786	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr1:224358412-224358801	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr1:224358320-224358781	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224358277..224359085-chr1:224520754..224521665,3	MCF-7	breast:

No data

Variant related genes	Relation type
DEGS1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10916370	0.88[ASN][1000 genomes]
rs11576702	0.87[ASN][1000 genomes]
rs11582248	0.88[ASN][1000 genomes]
rs11582460	0.88[ASN][1000 genomes]
rs12410321	0.84[ASN][1000 genomes]
rs12722938	0.88[ASN][1000 genomes]
rs12736412	0.88[ASN][1000 genomes]
rs12737029	0.81[ASN][1000 genomes]
rs12739782	0.88[ASN][1000 genomes]
rs12749977	0.85[ASN][1000 genomes]
rs16844823	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35177633	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35540939	0.88[ASN][1000 genomes]
rs61826374	0.85[ASN][1000 genomes]
rs61826409	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6656849	0.88[ASN][1000 genomes]
rs6657195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687643	0.84[ASN][1000 genomes]
rs71644775	0.88[ASN][1000 genomes]
rs71644776	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71644777	0.88[ASN][1000 genomes]
rs9662363	0.85[ASN][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224345600-224363400	Weak transcription	Ovary	ovary
5	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
6	chr1:224346600-224363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224346600-224363200	Weak transcription	Fetal Stomach	stomach
8	chr1:224346600-224363400	Weak transcription	Right Ventricle	heart
9	chr1:224346600-224363400	Weak transcription	Spleen	Spleen
10	chr1:224355400-224359200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:224355600-224359000	Enhancers	Placenta	Placenta
12	chr1:224356000-224359000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:224356200-224359000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:224356200-224359000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:224356200-224359200	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:224356400-224359000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:224356400-224359000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:224356400-224359000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:224356400-224359000	Enhancers	NHEK	skin
20	chr1:224356800-224359000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224357000-224359000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:224357000-224363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:224357200-224359000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:224357200-224359000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:224357200-224359200	Enhancers	Primary B cells from cord blood	blood
26	chr1:224357200-224359200	Enhancers	Primary T cells from cord blood	blood
27	chr1:224357200-224359200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:224357200-224363200	Weak transcription	Brain Substantia Nigra	brain
29	chr1:224357200-224363400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:224357800-224358800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:224357800-224363200	Weak transcription	HUVEC	blood vessel
32	chr1:224358000-224363200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:224358200-224359000	Enhancers	Small Intestine	intestine
34	chr1:224358200-224363400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:224358400-224358800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:224358400-224358800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:224358400-224359200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:224358400-224363400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:224358600-224358800	Weak transcription	Right Atrium	heart
40	chr1:224358600-224361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:224358600-224362600	Weak transcription	Fetal Thymus	thymus
42	chr1:224358600-224363000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:224358600-224363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:224358600-224363200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:224358600-224363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:224358600-224363200	Weak transcription	HMEC	breast
47	chr1:224358600-224363400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:224358600-224363400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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