Variant report

Variant	rs73657948
Chromosome Location	chr9:104242936-104242937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104224910..104226777-chr9:104240738..104243531,2	K562	blood:
2	chr9:104242678..104246485-chr9:104246674..104250284,6	K562	blood:

Variant related genes	Relation type
ENSG00000165152	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12003943	1.00[AMR][1000 genomes]
rs16920305	1.00[AMR][1000 genomes]
rs5007868	1.00[AMR][1000 genomes]
rs55729046	1.00[AMR][1000 genomes]
rs56319160	1.00[AMR][1000 genomes]
rs6479051	1.00[AMR][1000 genomes]
rs73657937	1.00[AMR][1000 genomes]
rs73657940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73657950	1.00[AMR][1000 genomes]
rs73657952	1.00[AMR][1000 genomes]
rs73657955	1.00[AMR][1000 genomes]
rs7864833	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	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:73 , 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	chr9:104238800-104246400	Weak transcription	Fetal Brain Male	brain
7	chr9:104239000-104244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:104239000-104247800	Weak transcription	A549	lung
9	chr9:104239200-104243000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:104239200-104244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:104239200-104247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:104239200-104247800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:104239200-104247800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:104239200-104247800	Weak transcription	Fetal Lung	lung
15	chr9:104239200-104247800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:104239200-104248000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:104239200-104248000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:104239200-104248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:104239200-104248200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:104239400-104243600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:104239400-104245000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:104239400-104247800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:104239400-104247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:104239400-104247800	Weak transcription	Fetal Stomach	stomach
25	chr9:104239400-104248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:104239400-104248000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:104239400-104248000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:104239400-104248000	Weak transcription	Brain Germinal Matrix	brain
29	chr9:104239600-104244400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:104239800-104244600	Enhancers	Stomach Mucosa	stomach
31	chr9:104240000-104243400	Enhancers	HMEC	breast
32	chr9:104240200-104243800	Enhancers	Right Ventricle	heart
33	chr9:104240600-104243000	Enhancers	Brain Substantia Nigra	brain
34	chr9:104240600-104243800	Enhancers	Right Atrium	heart
35	chr9:104240600-104244400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:104240600-104244400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:104240600-104244800	Enhancers	Pancreas	Pancrea
38	chr9:104240800-104244400	Enhancers	Fetal Intestine Large	intestine
39	chr9:104240800-104244600	Enhancers	Fetal Intestine Small	intestine
40	chr9:104241000-104243800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:104241000-104246800	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:104241000-104247800	Enhancers	Fetal Heart	heart
43	chr9:104241000-104248200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:104241200-104246400	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:104241200-104247800	Weak transcription	Fetal Brain Female	brain
46	chr9:104241400-104244000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:104241400-104244400	Enhancers	Hela-S3	cervix
48	chr9:104241600-104243200	Weak transcription	Esophagus	oesophagus
49	chr9:104241600-104243200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:104241600-104245000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links