Variant report

Variant	rs16900516
Chromosome Location	chr8:126302067-126302068
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126291827..126293740-chr8:126301224..126303367,2	MCF-7	breast:
2	chr8:126298317..126304061-chr8:126440512..126444095,5	MCF-7	breast:
3	chr8:126302028..126304645-chr8:126442784..126445222,2	K562	blood:
4	chr8:126300520..126302327-chr8:126305625..126307763,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12542512	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651233	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003102	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007866	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816350	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126286600-126302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:126295400-126303200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:126295600-126302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:126298200-126306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:126298400-126303600	Weak transcription	Liver	Liver
9	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
10	chr8:126298400-126312800	Weak transcription	Gastric	stomach
11	chr8:126299600-126302800	Enhancers	K562	blood
12	chr8:126299600-126304200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:126299800-126303200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:126300200-126303000	Enhancers	Fetal Heart	heart
15	chr8:126300400-126302200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:126300400-126303000	Enhancers	HUVEC	blood vessel
17	chr8:126300600-126302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:126300600-126304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:126300600-126304400	Enhancers	HepG2	liver
20	chr8:126300800-126302400	Enhancers	HSMM	muscle
21	chr8:126301000-126302200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:126301000-126302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:126301200-126302200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:126301200-126302200	Enhancers	Small Intestine	intestine
25	chr8:126301200-126302200	Enhancers	NHDF-Ad	bronchial
26	chr8:126301200-126302400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:126301200-126302600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:126301200-126302800	Enhancers	A549	lung
29	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:126301200-126303000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:126301200-126303000	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:126301200-126303200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:126301200-126303200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr8:126301200-126303200	Enhancers	Brain Hippocampus Middle	brain
36	chr8:126301200-126303200	Enhancers	Fetal Intestine Small	intestine
37	chr8:126301200-126304400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:126301400-126302200	Enhancers	Primary T cells from cord blood	blood
39	chr8:126301400-126302400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:126301400-126302400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:126301400-126302800	Enhancers	Brain Angular Gyrus	brain
42	chr8:126301400-126303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:126301400-126303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:126301400-126303000	Enhancers	Brain Anterior Caudate	brain
45	chr8:126301400-126303000	Enhancers	Brain Substantia Nigra	brain
46	chr8:126301400-126303000	Enhancers	Thymus	Thymus
47	chr8:126301400-126303400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:126301400-126303400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:126301400-126307000	Enhancers	GM12878-XiMat	blood
50	chr8:126301600-126302800	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links