Variant report

Variant	rs1929483
Chromosome Location	chr9:104247266-104247267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104246363..104248786-chr9:104290917..104293044,2	K562	blood:
2	chr9:104237414..104239742-chr9:104246128..104247680,2	K562	blood:
3	chr9:104230694..104236463-chr9:104246967..104249431,5	K562	blood:

Variant related genes	Relation type
ENSG00000225376	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11793946	0.81[ASN][1000 genomes]
rs16920437	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920441	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920477	0.81[ASN][1000 genomes]
rs2417270	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411396	0.81[ASN][1000 genomes]
rs3813523	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56998622	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575836	0.81[ASN][1000 genomes]
rs62575837	0.81[ASN][1000 genomes]
rs72745305	0.81[ASN][1000 genomes]
rs7872953	0.81[ASN][1000 genomes]
rs989900	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989901	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104227800-104248200	Weak transcription	Liver	Liver
2	chr9:104229000-104248200	Weak transcription	NHLF	lung
3	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:104231000-104248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:104234400-104248200	Weak transcription	Fetal Kidney	kidney
6	chr9:104239000-104247800	Weak transcription	A549	lung
7	chr9:104239200-104247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:104239200-104247800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:104239200-104247800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:104239200-104247800	Weak transcription	Fetal Lung	lung
11	chr9:104239200-104247800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:104239200-104248000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:104239200-104248000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:104239200-104248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:104239200-104248200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:104239400-104247800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:104239400-104247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:104239400-104247800	Weak transcription	Fetal Stomach	stomach
19	chr9:104239400-104248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:104239400-104248000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:104239400-104248000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:104239400-104248000	Weak transcription	Brain Germinal Matrix	brain
23	chr9:104241000-104247800	Enhancers	Fetal Heart	heart
24	chr9:104241000-104248200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:104241200-104247800	Weak transcription	Fetal Brain Female	brain
26	chr9:104241800-104248200	Weak transcription	Aorta	Aorta
27	chr9:104242200-104247800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:104242200-104248200	Weak transcription	Gastric	stomach
29	chr9:104242200-104248200	Weak transcription	Psoas Muscle	Psoas
30	chr9:104242800-104247800	Weak transcription	Brain Anterior Caudate	brain
31	chr9:104243000-104247800	Weak transcription	Adipose Nuclei	Adipose
32	chr9:104243000-104248200	Weak transcription	Brain Substantia Nigra	brain
33	chr9:104243800-104247800	Weak transcription	Right Atrium	heart
34	chr9:104243800-104248000	Weak transcription	Right Ventricle	heart
35	chr9:104243800-104248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:104243800-104248200	Weak transcription	Esophagus	oesophagus
37	chr9:104244000-104247800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:104244200-104247600	Weak transcription	K562	blood
39	chr9:104244200-104247800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:104244400-104247600	Weak transcription	Hela-S3	cervix
41	chr9:104244400-104247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:104244400-104247800	Weak transcription	Fetal Intestine Large	intestine
43	chr9:104244400-104247800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:104244400-104248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:104244400-104248000	Weak transcription	NHEK	skin
46	chr9:104244400-104248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:104244800-104247600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:104244800-104248200	Weak transcription	Left Ventricle	heart
49	chr9:104244800-104248200	Weak transcription	Pancreas	Pancrea
50	chr9:104245400-104248200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links