Variant report

Variant	rs57513852
Chromosome Location	chr2:233717640-233717641
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	chr2:233717635-233718693	HCT-116	colon:	n/a	chr2:233717998-233718011 chr2:233717995-233718013 chr2:233717998-233718011 chr2:233717997-233718018
2	CTCF	chr2:233717580-233717730	NB4	blood:	n/a	n/a
3	CTCF	chr2:233717522-233718792	A549	lung:	n/a	chr2:233717998-233718011 chr2:233717995-233718013 chr2:233717998-233718011 chr2:233717997-233718018
4	RAD21	chr2:233717625-233718592	SK-N-SH	brain:	n/a	chr2:233717996-233718015
5	CTCF	chr2:233717520-233717670	NHDF-neo	bronchial:	n/a	n/a
6	SMC3	chr2:233717409-233718596	SK-N-SH	brain:	n/a	chr2:233717997-233718011
7	SMC3	chr2:233717601-233719414	Hela-S3	cervix:	n/a	chr2:233717997-233718011

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233716839..233718860-chr2:233720640..233722784,2	K562	blood:
2	chr2:233717471..233718489-chr2:234159703..234160491,4	K562	blood:

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000182600	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11883745	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11883794	0.83[EUR][1000 genomes]
rs11884898	0.82[ASN][1000 genomes]
rs11885029	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885497	0.83[EUR][1000 genomes]
rs11885646	0.85[EUR][1000 genomes]
rs11890879	0.83[EUR][1000 genomes]
rs11892639	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11894688	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11897789	0.83[EUR][1000 genomes]
rs11900295	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11900327	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11901015	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11904714	0.82[ASN][1000 genomes]
rs2271702	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289913	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2293781	0.85[EUR][1000 genomes]
rs2305138	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2344614	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2880899	0.85[EUR][1000 genomes]
rs34487721	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738904	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816336	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817310	0.85[EUR][1000 genomes]
rs4144794	0.83[EUR][1000 genomes]
rs55686138	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55913849	0.83[EUR][1000 genomes]
rs56140815	0.85[EUR][1000 genomes]
rs56344253	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56357073	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56953250	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57092158	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57211905	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57657135	0.81[EUR][1000 genomes]
rs57667610	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57986228	0.81[EUR][1000 genomes]
rs58268778	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58466616	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58520085	0.83[EUR][1000 genomes]
rs58835825	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59488869	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59502980	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59514271	0.81[EUR][1000 genomes]
rs59667905	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60103392	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60532570	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60726219	0.81[ASN][1000 genomes]
rs61518838	0.81[EUR][1000 genomes]
rs6719766	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73092767	0.81[EUR][1000 genomes]
rs73092790	0.85[EUR][1000 genomes]
rs73102244	0.81[EUR][1000 genomes]
rs73102257	0.85[EUR][1000 genomes]
rs73102286	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73106355	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73106363	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73107693	0.85[EUR][1000 genomes]
rs73108328	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73108346	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73995715	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73999704	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73999707	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560000	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7564410	0.83[EUR][1000 genomes]
rs7578385	0.85[EUR][1000 genomes]
rs7598518	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7601559	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:233698400-233723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:233703400-233718600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:233703400-233726400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:233703600-233718400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:233703600-233725200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:233703800-233724800	Strong transcription	Dnd41	blood
12	chr2:233704000-233721400	Strong transcription	Fetal Intestine Large	intestine
13	chr2:233704200-233718200	Strong transcription	Fetal Brain Female	brain
14	chr2:233704200-233719200	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:233704200-233725000	Strong transcription	Fetal Thymus	thymus
16	chr2:233704400-233726200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:233704400-233726600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:233704600-233718200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:233704600-233726000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
21	chr2:233704800-233719000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:233704800-233726600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:233705000-233726600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:233705600-233726600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:233708600-233718400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:233708800-233718400	Strong transcription	Fetal Lung	lung
28	chr2:233709000-233717800	Strong transcription	Fetal Kidney	kidney
29	chr2:233712000-233721400	Strong transcription	Fetal Intestine Small	intestine
30	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
31	chr2:233713400-233721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:233713600-233721600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:233714000-233726400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:233714600-233720000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:233714800-233721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:233714800-233721400	Weak transcription	Fetal Brain Male	brain
37	chr2:233715200-233721200	Weak transcription	Right Ventricle	heart
38	chr2:233715200-233721400	Weak transcription	Stomach Mucosa	stomach
39	chr2:233715600-233718200	Strong transcription	Brain Substantia Nigra	brain
40	chr2:233715800-233718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:233715800-233721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:233715800-233725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:233716000-233720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:233716000-233720200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:233716000-233721200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:233716200-233718200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:233716200-233720200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:233716600-233717800	Genic enhancers	Hela-S3	cervix
49	chr2:233716600-233718600	Genic enhancers	K562	blood
50	chr2:233716600-233719600	Genic enhancers	HSMM	muscle

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