Variant report

Variant	rs6984556
Chromosome Location	chr8:125651912-125651913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
2	chr8:125648425..125652159-chr8:125652603..125655556,5	K562	blood:
3	chr8:125649883..125652177-chr8:125661816..125663375,2	K562	blood:
4	chr8:125550112..125552934-chr8:125650696..125652652,2	K562	blood:
5	chr8:125648801..125651687-chr8:125651691..125654653,2	MCF-7	breast:
6	chr8:125651620..125655082-chr8:125825909..125828471,4	K562	blood:
7	chr8:125650533..125653150-chr8:125663806..125665478,2	MCF-7	breast:
8	chr8:125603731..125605480-chr8:125649123..125652014,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10094021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110414	1.00[AMR][1000 genomes]
rs12334947	1.00[AMR][1000 genomes]
rs7011616	0.83[AFR][1000 genomes];1.00[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:125643000-125652200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125643800-125656000	Weak transcription	HMEC	breast
7	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125644200-125653800	Weak transcription	Hela-S3	cervix
9	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
11	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
13	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:125647000-125654400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:125647000-125655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:125649400-125653600	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:125649600-125653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:125649600-125656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:125649800-125653600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
28	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
29	chr8:125650000-125652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:125650000-125652200	Weak transcription	Small Intestine	intestine
31	chr8:125650000-125653200	Weak transcription	Lung	lung
32	chr8:125650000-125653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:125650000-125653400	Weak transcription	Right Atrium	heart
34	chr8:125650000-125653600	Weak transcription	Stomach Mucosa	stomach
35	chr8:125650000-125653800	Weak transcription	Brain Angular Gyrus	brain
36	chr8:125650000-125654200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
39	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
40	chr8:125650200-125652200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:125650200-125653600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:125650200-125654200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:125650200-125655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:125650400-125653600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:125650600-125653600	Weak transcription	HSMMtube	muscle
46	chr8:125650600-125653800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:125650600-125653800	Weak transcription	Fetal Brain Female	brain
48	chr8:125650800-125653400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:125650800-125653400	Weak transcription	Fetal Brain Male	brain
50	chr8:125650800-125653600	Weak transcription	Brain Hippocampus Middle	brain

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