Variant report

Variant	rs729391
Chromosome Location	chr6:43917892-43917893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43735432..43742006-chr6:43916130..43924754,17	K562	blood:
2	chr6:43734091..43739914-chr6:43917004..43923314,11	MCF-7	breast:
3	chr6:43738015..43740761-chr6:43916683..43921119,5	MCF-7	breast:
4	chr6:43680878..43682620-chr6:43917140..43919611,2	K562	blood:
5	chr6:43917227..43922653-chr6:44039743..44042402,5	K562	blood:
6	chr6:43754968..43757763-chr6:43917516..43919358,2	K562	blood:
7	chr6:43735367..43746902-chr6:43913394..43925044,24	K562	blood:

Variant related genes	Relation type
ENSG00000272114	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000237686	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4711764	1.00[ASW][hapmap]
rs4714738	1.00[ASW][hapmap]
rs4714754	1.00[ASW][hapmap]
rs4714759	1.00[ASW][hapmap]
rs6916314	0.86[EUR][1000 genomes]
rs833805	1.00[ASW][hapmap]
rs9357432	1.00[ASW][hapmap]
rs9369453	1.00[ASW][hapmap]
rs9369454	1.00[ASW][hapmap]
rs9472158	0.87[EUR][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv428480	chr6:43764313-43929172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43905600-43919000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:43905800-43918600	Weak transcription	Stomach Mucosa	stomach
3	chr6:43909200-43922200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:43916200-43918200	Enhancers	HSMM	muscle
5	chr6:43916200-43918200	Enhancers	HSMMtube	muscle
6	chr6:43916400-43918200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:43916400-43918800	Bivalent Enhancer	HepG2	liver
8	chr6:43916600-43918200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:43916600-43918600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:43916600-43920000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:43916600-43920200	Enhancers	Fetal Lung	lung
12	chr6:43916600-43921600	Enhancers	K562	blood
13	chr6:43916800-43918800	Weak transcription	Right Atrium	heart
14	chr6:43917000-43918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:43917000-43918800	Weak transcription	Right Ventricle	heart
16	chr6:43917000-43921800	Weak transcription	Left Ventricle	heart
17	chr6:43917000-43921800	Weak transcription	Psoas Muscle	Psoas
18	chr6:43917200-43918600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:43917200-43918800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:43917600-43919400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:43917800-43918000	Enhancers	Fetal Stomach	stomach
22	chr6:43917800-43918200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:43917800-43918200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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