Variant report

Variant	rs4849083
Chromosome Location	chr2:113383985-113383986
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	CTCF	chr2:113383917-113384028	GM20000	blood:	n/a	n/a
2	FOXM1	chr2:113383903-113384570	GM12878	blood:	n/a	n/a
3	CTCF	chr2:113383976-113384846	HCT-116	colon:	n/a	chr2:113384275-113384288 chr2:113384274-113384295 chr2:113384272-113384290 chr2:113384422-113384435
4	POLR2A	chr2:113383257-113385826	U87	brain:	n/a	n/a
5	RAD21	chr2:113383952-113384614	HepG2	liver:	n/a	chr2:113384356-113384368 chr2:113384276-113384289 chr2:113384278-113384290 chr2:113384273-113384292 chr2:113384278-113384288
6	POLR2A	chr2:113383979-113385464	U87	brain:	n/a	n/a
7	RXRA	chr2:113383954-113385415	SK-N-SH	brain:	n/a	chr2:113384272-113384292 chr2:113384998-113385012
8	MAX	chr2:113383968-113385807	A549	lung:	n/a	n/a
9	TCF12	chr2:113383967-113385540	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr2:113383662-113385425	SK-N-SH	brain:	n/a	chr2:113384275-113384288 chr2:113384274-113384295 chr2:113384272-113384290 chr2:113384422-113384435
11	RCOR1	chr2:113383952-113385396	IMR90	lung:	n/a	n/a
12	POLR2A	chr2:113383159-113385910	U87	brain:	n/a	n/a
13	TCF12	chr2:113383850-113385593	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:113383944-113385957	HUVEC	blood vessel:	n/a	n/a
15	MAZ	chr2:113383984-113385422	IMR90	lung:	n/a	n/a
16	RAD21	chr2:113383966-113384850	SK-N-SH	brain:	n/a	chr2:113384356-113384368 chr2:113384276-113384289 chr2:113384278-113384290 chr2:113384273-113384292 chr2:113384278-113384288
17	RAD21	chr2:113383974-113385417	HCT-116	colon:	n/a	chr2:113384356-113384368 chr2:113384276-113384289 chr2:113384278-113384290 chr2:113384273-113384292 chr2:113384278-113384288
18	POLR2A	chr2:113383979-113385458	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113383684..113385667-chr2:113481537..113485469,35	K562	blood:
2	chr2:113381929..113384460-chr2:113482679..113485995,5	MCF-7	breast:
3	chr2:113382749..113384471-chr2:113464194..113466806,2	K562	blood:
4	chr2:113378841..113381519-chr2:113383348..113385320,2	MCF-7	breast:
5	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
6	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
7	chr2:113340704..113344392-chr2:113381565..113384382,5	MCF-7	breast:
8	chr2:113383746..113384937-chr2:113484019..113484887,5	MCF-7	breast:
9	chr2:113383790..113384739-chr2:113448337..113449101,4	MCF-7	breast:
10	chr2:113380240..113386960-chr2:113401832..113406779,10	MCF-7	breast:
11	chr2:113383817..113384789-chr2:113484041..113484921,7	MCF-7	breast:
12	chr2:113380970..113385799-chr2:113479613..113484625,8	K562	blood:
13	chr2:113383314..113385378-chr2:113441903..113443465,2	MCF-7	breast:
14	chr2:113382212..113385648-chr2:113390770..113393800,3	MCF-7	breast:
15	chr2:113383706..113386562-chr2:113417388..113419756,2	MCF-7	breast:
16	chr2:113361529..113363513-chr2:113383774..113386118,3	K562	blood:
17	chr2:113380843..113384962-chr2:113480402..113484110,5	K562	blood:
18	chr2:113383765..113384740-chr2:113448133..113449127,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231747	TF binding region
ENSG00000231747	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000125611	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11676691	0.92[EUR][1000 genomes]
rs11677284	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11678996	0.82[EUR][1000 genomes]
rs13023016	0.81[EUR][1000 genomes]
rs3088301	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35743012	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3849316	0.93[ASN][1000 genomes]
rs3849317	0.93[ASN][1000 genomes]
rs3980075	0.91[ASN][1000 genomes]
rs4848284	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849078	0.87[ASN][1000 genomes]
rs4849079	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4849084	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62158654	0.87[EUR][1000 genomes]
rs6542065	0.90[ASN][1000 genomes]
rs6542066	0.94[ASN][1000 genomes]
rs6542067	0.95[ASN][1000 genomes]
rs6542068	0.99[ASN][1000 genomes]
rs6740202	0.89[ASN][1000 genomes]
rs6758898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559385	0.99[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	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
3	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:113372400-113388600	Weak transcription	Gastric	stomach
7	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:113377400-113384200	Weak transcription	Right Atrium	heart
10	chr2:113378800-113384000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:113379800-113384200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:113380000-113384000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:113380200-113387600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:113380400-113384200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:113380400-113387600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:113381000-113384200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:113381000-113384400	Enhancers	NHLF	lung
20	chr2:113381400-113384200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:113381400-113384200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:113381400-113384200	Enhancers	HUVEC	blood vessel
23	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:113381600-113384000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:113381600-113384000	Enhancers	A549	lung
26	chr2:113381600-113384000	Enhancers	NH-A	brain
27	chr2:113381600-113384200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:113381600-113384200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:113381600-113384200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:113381600-113384200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:113381600-113384200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:113381600-113384200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:113381600-113384200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:113381600-113384200	Enhancers	HSMMtube	muscle
35	chr2:113381600-113384200	Enhancers	NHDF-Ad	bronchial
36	chr2:113381600-113386000	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:113381600-113389600	Enhancers	Placenta	Placenta
39	chr2:113381800-113384000	Enhancers	Osteobl	bone
40	chr2:113381800-113384200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:113381800-113385200	Flanking Active TSS	Hela-S3	cervix
42	chr2:113382000-113384000	Enhancers	HSMM	muscle
43	chr2:113382000-113385800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:113382200-113384000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:113382200-113384000	Weak transcription	Small Intestine	intestine
46	chr2:113382200-113384200	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:113382200-113384200	Weak transcription	Esophagus	oesophagus
48	chr2:113382200-113384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:113382200-113384400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:113382400-113384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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