Variant report

Variant	rs6740921
Chromosome Location	chr2:54811847-54811848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54810337..54813834-chr2:54815762..54818177,4	MCF-7	breast:
2	chr2:54801312..54801940-chr2:54811431..54812282,2	MCF-7	breast:
3	chr2:54811634..54814043-chr2:54850461..54852371,2	MCF-7	breast:
4	chr2:54796611..54799496-chr2:54810522..54814074,3	MCF-7	breast:
5	chr2:54797362..54799747-chr2:54810321..54813282,3	K562	blood:
6	chr2:54789199..54791941-chr2:54810651..54814148,3	K562	blood:
7	chr2:54811733..54813663-chr2:54814407..54817316,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs55633042	1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57086836	0.82[AFR][1000 genomes]
rs57406175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs58987524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59061110	1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6710191	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	1.00[AMR][1000 genomes]
rs73934809	1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs73938306	1.00[AMR][1000 genomes]
rs7570695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6740921	HEBP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802000-54816400	Enhancers	Liver	Liver
2	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
3	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:54804600-54814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:54806200-54813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:54806800-54812000	Weak transcription	NHLF	lung
10	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:54807200-54812800	Weak transcription	HSMMtube	muscle
12	chr2:54807200-54814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:54807200-54814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
16	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:54807400-54813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:54807600-54812000	Weak transcription	HMEC	breast
19	chr2:54807600-54813600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:54807800-54812600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:54807800-54812600	Genic enhancers	HepG2	liver
22	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:54808000-54813200	Weak transcription	Fetal Stomach	stomach
25	chr2:54808400-54816800	Enhancers	Brain Anterior Caudate	brain
26	chr2:54808800-54812000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:54808800-54815800	Weak transcription	Placenta	Placenta
28	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:54809000-54812400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:54809000-54813000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:54809200-54814800	Genic enhancers	A549	lung
32	chr2:54809400-54812000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:54809400-54812200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:54809400-54815600	Weak transcription	Fetal Kidney	kidney
35	chr2:54809400-54816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:54809400-54816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:54809400-54816400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:54809400-54816400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:54809600-54812000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:54809600-54814000	Enhancers	Primary B cells from cord blood	blood
42	chr2:54809600-54814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:54809600-54815200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:54809600-54815600	Weak transcription	Gastric	stomach
45	chr2:54809600-54816200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:54809800-54812000	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr2:54809800-54812000	Genic enhancers	Fetal Intestine Large	intestine
49	chr2:54810000-54812200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:54810000-54816400	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links