Variant report

Variant	rs1723285
Chromosome Location	chr2:74426038-74426039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
2	chr2:74397813..74400618-chr2:74425096..74427227,2	MCF-7	breast:
3	chr2:74425407..74426106-chr7:139043916..139044907,2	Hela-S3	cervix:
4	chr2:74423959..74426234-chr2:74728911..74730811,4	K562	blood:
5	chr2:74425417..74426404-chr3:129158834..129159727,2	Hela-S3	cervix:
6	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
7	chr1:145382547..145383056-chr2:74425765..74426275,2	Hela-S3	cervix:
8	chr10:69865624..69866375-chr2:74425502..74426074,2	Hela-S3	cervix:
9	chr1:213615850..213616466-chr2:74425780..74426377,2	MCF-7	breast:
10	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
11	chr14:64319297..64320096-chr2:74425675..74426285,2	Hela-S3	cervix:
12	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
13	chr1:17231207..17231977-chr2:74425262..74426115,2	Hela-S3	cervix:
14	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
15	chr12:123716997..123718069-chr2:74425440..74426291,3	Hela-S3	cervix:
16	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
17	chr2:74425505..74426095-chr9:132387975..132388623,2	HCT-116	colon:
18	chr1:245133242..245133885-chr2:74425551..74426096,2	Hela-S3	cervix:
19	chr12:44199977..44200674-chr2:74425407..74426047,2	Hela-S3	cervix:
20	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:
21	chr2:74425262..74426237-chr3:152878862..152879670,2	Hela-S3	cervix:
22	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
23	chr2:74425852..74427656-chr2:74647000..74649237,2	MCF-7	breast:
24	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
25	chr2:74425544..74426237-chr3:146262234..146262977,2	HCT-116	colon:
26	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
27	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
28	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
29	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
30	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
31	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
32	chr15:65588103..65588660-chr2:74425649..74426482,2	Hela-S3	cervix:
33	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
34	chr1:210547014..210547912-chr2:74425635..74426185,2	HCT-116	colon:
35	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
36	chr15:66796682..66797225-chr2:74425336..74426277,2	Hela-S3	cervix:
37	chr2:74425525..74426060-chr21:34914349..34915114,2	Hela-S3	cervix:
38	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
39	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
40	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
41	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
42	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
43	chr16:56715933..56716914-chr2:74425591..74426161,2	HCT-116	colon:
44	chr2:74425474..74426159-chr20:62258160..62259047,2	Hela-S3	cervix:
45	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
46	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
47	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:
48	chr2:74425539..74426148-chrX:12992455..12993356,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000244268	Chromatin interaction
ENSG00000138347	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000159131	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000005448	Chromatin interaction
ENSG00000159140	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000101216	Chromatin interaction
ENSG00000232442	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000148335	Chromatin interaction
ENSG00000205542	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000204822	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000203666	Chromatin interaction
ENSG00000159239	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000163913	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000188313	Chromatin interaction
ENSG00000187193	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000129071	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000201558	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1095968	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12196	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13426653	0.81[EUR][1000 genomes]
rs1667601	0.85[CEU][hapmap]
rs1723281	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108164	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4853016	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546893	0.85[EUR][1000 genomes]
rs702462	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7340453	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587117	1.00[CHB][hapmap]
rs828853	0.81[EUR][1000 genomes]
rs828855	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828856	0.85[EUR][1000 genomes]
rs828857	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828858	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828859	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828903	0.81[CEU][hapmap];0.81[EUR][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	81 gene(s)	inside rSNPs	diseases
4	esv3342573	chr2:74424669-74427217	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74425000-74426400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:74425000-74426600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:74425000-74426800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:74425000-74427200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74425000-74427400	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:74425000-74427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:74425000-74428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:74425000-74428800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:74425200-74426800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:74425200-74426800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr2:74425200-74427000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:74425200-74427000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:74425200-74427000	Active TSS	Fetal Kidney	kidney
14	chr2:74425200-74427000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:74425200-74427000	Active TSS	A549	lung
16	chr2:74425200-74427000	Active TSS	HSMM	muscle
17	chr2:74425200-74427000	Active TSS	HSMMtube	muscle
18	chr2:74425200-74427000	Active TSS	NHLF	lung
19	chr2:74425200-74427200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:74425200-74427200	Active TSS	Colonic Mucosa	Colon
21	chr2:74425200-74427200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:74425200-74427200	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:74425200-74427400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:74425200-74427400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:74425200-74427400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:74425200-74427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:74425200-74427400	Active TSS	Fetal Brain Female	brain
28	chr2:74425200-74427600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:74425200-74427600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr2:74425200-74427600	Active TSS	Right Ventricle	heart
31	chr2:74425200-74428000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:74425200-74428000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:74425200-74428600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:74425200-74428600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:74425400-74426400	Active TSS	Pancreas	Pancrea
36	chr2:74425400-74426600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:74425400-74426600	Active TSS	Duodenum Mucosa	Duodenum
38	chr2:74425400-74426800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:74425400-74427000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:74425400-74427000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:74425400-74427000	Active TSS	Psoas Muscle	Psoas
42	chr2:74425400-74427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:74425400-74427200	Flanking Active TSS	Placenta	Placenta
44	chr2:74425400-74427200	Active TSS	Lung	lung
45	chr2:74425400-74427200	Active TSS	HMEC	breast
46	chr2:74425400-74427400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:74425400-74427400	Active TSS	Ovary	ovary
48	chr2:74425400-74427400	Active TSS	Right Atrium	heart
49	chr2:74425400-74427600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr2:74425400-74427600	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links