Variant report

Variant	rs11984704
Chromosome Location	chr8:9429053-9429054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9419871..9422970-chr8:9428718..9431481,5	K562	blood:
2	chr8:9422651..9424480-chr8:9427655..9429420,2	K562	blood:
3	chr8:9427337..9429696-chr8:9430141..9432387,2	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10093621	0.87[AMR][1000 genomes]
rs10111136	0.87[AMR][1000 genomes]
rs28398294	0.87[AMR][1000 genomes]
rs28398977	0.87[AMR][1000 genomes]
rs28511573	0.87[AMR][1000 genomes]
rs28532946	0.87[AMR][1000 genomes]
rs28670159	0.87[AMR][1000 genomes]
rs28704110	1.00[AMR][1000 genomes]
rs34585234	0.87[AMR][1000 genomes]
rs34926300	1.00[AMR][1000 genomes]
rs35557473	0.87[AMR][1000 genomes]
rs4604434	0.87[AMR][1000 genomes]
rs55893352	0.87[AMR][1000 genomes]
rs59032403	1.00[AMR][1000 genomes]
rs60862678	0.87[AMR][1000 genomes]
rs73526934	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
5	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:9416600-9430200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:9417200-9430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
12	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:9417600-9437600	Weak transcription	Dnd41	blood
14	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:9418600-9434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:9420400-9429400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:9421600-9429400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:9422000-9432400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:9422400-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
22	chr8:9425800-9429400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:9425800-9435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:9426200-9430800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:9426200-9431400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:9426400-9429400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:9426600-9429600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:9426800-9429400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:9427000-9430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:9427000-9435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
32	chr8:9428000-9433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:9428000-9434600	Weak transcription	HepG2	liver
34	chr8:9428000-9435400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:9428200-9429400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:9428200-9434800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:9428200-9435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:9428200-9435400	Weak transcription	Gastric	stomach
39	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:9428400-9429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:9428400-9429600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:9428400-9433400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:9428400-9435000	Weak transcription	Right Ventricle	heart
44	chr8:9428400-9435200	Weak transcription	Aorta	Aorta
45	chr8:9428400-9435200	Weak transcription	Ovary	ovary
46	chr8:9428400-9435400	Weak transcription	Left Ventricle	heart
47	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
48	chr8:9428800-9435000	Weak transcription	Fetal Heart	heart
49	chr8:9429000-9437200	Weak transcription	Brain Angular Gyrus	brain
50	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links