Variant report

Variant	rs73426639
Chromosome Location	chr6:44006446-44006447
allele	A/C
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:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11969267	0.95[ASN][1000 genomes]
rs73426624	1.00[EUR][1000 genomes]
rs73426626	0.84[AFR][1000 genomes]
rs73426633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733804	0.95[ASN][1000 genomes]
rs9472199	0.95[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	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:51 , 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	chr6:44002400-44010200	Weak transcription	Right Ventricle	heart
5	chr6:44002600-44006800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:44002600-44006800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:44002600-44006800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:44002600-44007000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:44002800-44007000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:44003000-44006800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:44003000-44007000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:44003200-44006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:44003400-44008600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:44003600-44006600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:44004200-44008200	Weak transcription	HUVEC	blood vessel
16	chr6:44004200-44013200	Weak transcription	Lung	lung
17	chr6:44004400-44008400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:44004400-44009000	Weak transcription	Spleen	Spleen
19	chr6:44004400-44009000	Weak transcription	HSMMtube	muscle
20	chr6:44004600-44006600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:44004600-44006600	Weak transcription	NHEK	skin
22	chr6:44004600-44006800	Weak transcription	A549	lung
23	chr6:44004600-44006800	Weak transcription	HSMM	muscle
24	chr6:44004600-44007800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:44004600-44007800	Weak transcription	Fetal Stomach	stomach
26	chr6:44004600-44007800	Weak transcription	NHLF	lung
27	chr6:44004600-44008000	Weak transcription	NH-A	brain
28	chr6:44004600-44008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44004600-44008200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:44004600-44008400	Weak transcription	Osteobl	bone
31	chr6:44004600-44008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:44004600-44009000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:44004600-44009200	Weak transcription	Fetal Kidney	kidney
34	chr6:44004600-44009200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:44004800-44008000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:44004800-44008200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:44004800-44008200	Weak transcription	NHDF-Ad	bronchial
38	chr6:44005200-44007600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:44005200-44009000	Weak transcription	Fetal Intestine Small	intestine
40	chr6:44005600-44006800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:44005600-44009200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:44005800-44011600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:44005800-44036800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:44006000-44006600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:44006000-44009000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:44006000-44011600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:44006200-44009000	Enhancers	Hela-S3	cervix
48	chr6:44006200-44012400	Enhancers	HMEC	breast
49	chr6:44006400-44007000	Enhancers	K562	blood
50	chr6:44006400-44011800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links