Variant report

Variant	rs6735962
Chromosome Location	chr2:54823059-54823060
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54822318..54824059-chr2:54829758..54831616,2	MCF-7	breast:
2	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
3	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
4	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:
5	chr2:54822696..54824811-chr2:54826177..54828033,3	K562	blood:
6	chr2:54818034..54820422-chr2:54821780..54823433,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10166797	0.80[AFR][1000 genomes]
rs10169013	1.00[ASN][1000 genomes]
rs10171393	1.00[ASN][1000 genomes]
rs10172671	1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182310	1.00[ASN][1000 genomes]
rs10188548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10189084	1.00[ASN][1000 genomes]
rs10191357	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194488	1.00[ASN][1000 genomes]
rs10195423	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10206622	1.00[ASN][1000 genomes]
rs13391762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401431	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13403817	1.00[ASN][1000 genomes]
rs13414727	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs13415413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415949	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423872	1.00[ASN][1000 genomes]
rs13425620	1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426037	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428524	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431302	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432101	1.00[GIH][hapmap]
rs164941	1.00[ASN][1000 genomes]
rs17045949	1.00[ASN][1000 genomes]
rs2229505	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28496426	1.00[ASN][1000 genomes]
rs28609649	1.00[ASN][1000 genomes]
rs28660202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710338	0.81[AFR][1000 genomes]
rs4387841	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs6545417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545426	1.00[ASN][1000 genomes]
rs6746379	1.00[ASN][1000 genomes]
rs6748715	0.86[ASW][hapmap];1.00[YRI][hapmap]
rs7340250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73934326	1.00[ASN][1000 genomes]
rs7574433	1.00[ASN][1000 genomes]
rs7583633	0.86[YRI][hapmap]
rs9808516	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv961318	chr2:54818096-54823449	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:54815400-54823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:54816800-54823200	Weak transcription	Fetal Kidney	kidney
8	chr2:54816800-54823400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:54817000-54823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:54817000-54823200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
13	chr2:54817400-54823200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:54817400-54823400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:54817400-54825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:54817600-54823600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:54817600-54825000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:54817600-54825600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:54817800-54823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54817800-54825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:54817800-54826200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:54817800-54826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:54818000-54824400	Weak transcription	HMEC	breast
24	chr2:54818000-54826200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:54819200-54823200	Strong transcription	Fetal Intestine Small	intestine
26	chr2:54819800-54823200	Strong transcription	Fetal Intestine Large	intestine
27	chr2:54820000-54823200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:54820200-54823600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:54820400-54823400	Enhancers	Primary B cells from cord blood	blood
30	chr2:54820600-54824200	Weak transcription	Fetal Brain Female	brain
31	chr2:54820600-54824600	Weak transcription	Fetal Brain Male	brain
32	chr2:54820800-54823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:54820800-54823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:54820800-54826000	Weak transcription	Osteobl	bone
35	chr2:54820800-54826200	Weak transcription	Hela-S3	cervix
36	chr2:54821000-54824400	Weak transcription	NHEK	skin
37	chr2:54821200-54824800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:54821400-54823400	Genic enhancers	GM12878-XiMat	blood
39	chr2:54821400-54823800	Weak transcription	HSMMtube	muscle
40	chr2:54821800-54823600	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr2:54822000-54823600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:54822200-54823200	Genic enhancers	Brain Anterior Caudate	brain
43	chr2:54822200-54823600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:54822200-54826200	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:54822200-54827800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr2:54822200-54828800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:54822200-54833800	Genic enhancers	HepG2	liver
48	chr2:54822400-54823200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:54822400-54823200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:54822400-54823200	Genic enhancers	Gastric	stomach

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