Variant report

Variant	rs7742822
Chromosome Location	chr6:44005133-44005134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43988852..43990667-chr6:44004955..44007123,2	K562	blood:
2	chr6:43968984..43971152-chr6:44005110..44007763,2	K562	blood:
3	chr6:43996792..44000305-chr6:44001908..44006580,5	K562	blood:
4	chr6:44004848..44006600-chr6:44010540..44013041,2	K562	blood:
5	chr6:43995090..43997129-chr6:44004019..44005828,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59959170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422548	1.00[AMR][1000 genomes]
rs73426618	1.00[AMR][1000 genomes]
rs73426655	0.85[AFR][1000 genomes];1.00[AMR][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	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	nsv462934	chr6:43956615-44007446	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv603001	chr6:43956615-44007446	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43979400-44010400	Weak transcription	Pancreas	Pancrea
2	chr6:43988600-44009200	Weak transcription	Right Atrium	heart
3	chr6:43993200-44009000	Weak transcription	Esophagus	oesophagus
4	chr6:44001600-44005600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:44002400-44010200	Weak transcription	Right Ventricle	heart
6	chr6:44002600-44006200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:44002600-44006800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:44002600-44006800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:44002600-44006800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:44002600-44007000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:44002800-44005600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:44002800-44007000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:44003000-44006800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:44003000-44007000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:44003200-44005800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:44003200-44006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:44003400-44006400	Weak transcription	K562	blood
18	chr6:44003400-44008600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:44003600-44006600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:44003800-44005200	Enhancers	Fetal Intestine Small	intestine
21	chr6:44004000-44005200	Flanking Active TSS	HepG2	liver
22	chr6:44004200-44008200	Weak transcription	HUVEC	blood vessel
23	chr6:44004200-44013200	Weak transcription	Lung	lung
24	chr6:44004400-44008400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:44004400-44009000	Weak transcription	Spleen	Spleen
26	chr6:44004400-44009000	Weak transcription	HSMMtube	muscle
27	chr6:44004600-44005200	Enhancers	Hela-S3	cervix
28	chr6:44004600-44005600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:44004600-44005600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:44004600-44005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:44004600-44005800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:44004600-44006400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:44004600-44006400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:44004600-44006600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:44004600-44006600	Weak transcription	NHEK	skin
36	chr6:44004600-44006800	Weak transcription	A549	lung
37	chr6:44004600-44006800	Weak transcription	HSMM	muscle
38	chr6:44004600-44007800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:44004600-44007800	Weak transcription	Fetal Stomach	stomach
40	chr6:44004600-44007800	Weak transcription	NHLF	lung
41	chr6:44004600-44008000	Weak transcription	NH-A	brain
42	chr6:44004600-44008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:44004600-44008200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:44004600-44008400	Weak transcription	Osteobl	bone
45	chr6:44004600-44008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:44004600-44009000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:44004600-44009200	Weak transcription	Fetal Kidney	kidney
48	chr6:44004600-44009200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:44004800-44005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:44004800-44006000	Enhancers	Monocytes-CD14+_RO01746	blood

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