Variant report

Variant	rs12348843
Chromosome Location	chr9:96354581-96354582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
2	chr9:96337228..96342243-chr9:96353878..96357514,8	K562	blood:
3	chr9:96350798..96352728-chr9:96354476..96356898,3	K562	blood:
4	chr9:96343820..96344566-chr9:96354539..96355045,2	MCF-7	breast:
5	chr9:96353562..96356481-chr9:96362305..96366209,4	MCF-7	breast:
6	chr9:96213315..96216205-chr9:96353785..96355750,2	MCF-7	breast:
7	chr9:96353399..96355498-chr9:96360574..96362233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10116959	1.00[EUR][1000 genomes]
rs10117404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10118281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10118574	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10118955	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10121548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10121798	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10123186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10123412	1.00[EUR][1000 genomes]
rs10992758	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992822	1.00[EUR][1000 genomes]
rs1123475	1.00[EUR][1000 genomes]
rs12337821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12344186	1.00[EUR][1000 genomes]
rs12346586	1.00[EUR][1000 genomes]
rs12349453	1.00[EUR][1000 genomes]
rs12350884	1.00[EUR][1000 genomes]
rs16909307	1.00[EUR][1000 genomes]
rs28369450	1.00[EUR][1000 genomes]
rs28406634	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28464341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848910	1.00[EUR][1000 genomes]
rs58925215	1.00[EUR][1000 genomes]
rs61301026	1.00[EUR][1000 genomes]
rs61467488	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61636268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7021423	1.00[EUR][1000 genomes]
rs7022246	1.00[EUR][1000 genomes]
rs7033089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73651245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73651251	1.00[EUR][1000 genomes]
rs73651269	1.00[EUR][1000 genomes]
rs73651270	1.00[EUR][1000 genomes]
rs73651296	1.00[AMR][1000 genomes]
rs73651297	1.00[EUR][1000 genomes]
rs73651298	1.00[EUR][1000 genomes]
rs7848429	1.00[EUR][1000 genomes]
rs7850596	1.00[EUR][1000 genomes]
rs7854758	1.00[EUR][1000 genomes]
rs7856259	1.00[EUR][1000 genomes]
rs7870048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7871486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96341400-96356000	Weak transcription	Hela-S3	cervix
2	chr9:96341600-96359600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:96342200-96359600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:96342600-96357800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:96343400-96360600	Weak transcription	Dnd41	blood
7	chr9:96344800-96356400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:96345000-96355000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:96345000-96356400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:96347400-96355400	Enhancers	Pancreas	Pancrea
12	chr9:96347400-96359000	Enhancers	Left Ventricle	heart
13	chr9:96347600-96355200	Enhancers	Right Atrium	heart
14	chr9:96347600-96355600	Enhancers	Right Ventricle	heart
15	chr9:96347600-96356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:96347600-96360600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:96348200-96354800	Weak transcription	Small Intestine	intestine
18	chr9:96348400-96356200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:96348400-96360200	Weak transcription	Primary B cells from cord blood	blood
20	chr9:96348400-96360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:96349000-96365800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:96349400-96356200	Weak transcription	A549	lung
23	chr9:96350000-96355200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr9:96350400-96354800	Weak transcription	K562	blood
25	chr9:96350800-96355600	Enhancers	HepG2	liver
26	chr9:96351200-96355200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:96351200-96355200	Enhancers	Brain Anterior Caudate	brain
28	chr9:96351400-96355200	Enhancers	Brain Angular Gyrus	brain
29	chr9:96351400-96355600	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:96351400-96357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:96351400-96359600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:96351600-96355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:96351600-96355400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:96351600-96355400	Enhancers	Brain Substantia Nigra	brain
35	chr9:96351800-96354800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:96352200-96354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:96352200-96354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:96352200-96354800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:96352200-96355000	Weak transcription	Psoas Muscle	Psoas
40	chr9:96352200-96355800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:96352400-96354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:96352400-96354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:96352400-96354600	Weak transcription	Fetal Intestine Large	intestine
44	chr9:96352400-96354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:96352400-96355000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:96352400-96355200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:96352400-96356000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:96352400-96356000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:96352400-96356400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:96352400-96357000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links