Variant report

Variant	rs7011616
Chromosome Location	chr8:125647825-125647826
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125640733..125644991-chr8:125647355..125650506,7	K562	blood:
2	chr8:125645660..125649648-chr8:125667642..125669195,3	K562	blood:
3	chr8:125640852..125644024-chr8:125644604..125648826,4	MCF-7	breast:
4	chr8:125647571..125649356-chr8:125735665..125737482,2	MCF-7	breast:
5	chr8:125647705..125651624-chr8:125656720..125658741,4	K562	blood:
6	chr8:125590632..125592383-chr8:125646702..125648636,2	K562	blood:
7	chr8:125646525..125649000-chr8:125654557..125656229,2	K562	blood:
8	chr8:125647545..125651264-chr8:125826076..125829178,3	K562	blood:
9	chr8:125647615..125650010-chr8:125670144..125672819,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272486	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086001	0.93[AFR][1000 genomes]
rs10094021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984556	0.83[AFR][1000 genomes];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	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
3	esv275526	chr8:125640964-125650653	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
2	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125639600-125649800	Weak transcription	Fetal Brain Female	brain
4	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125642600-125648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125643000-125652200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:125643800-125656000	Weak transcription	HMEC	breast
11	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:125644000-125649000	Weak transcription	Stomach Mucosa	stomach
13	chr8:125644200-125648000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:125644200-125648000	Weak transcription	Right Ventricle	heart
15	chr8:125644200-125648200	Weak transcription	Adipose Nuclei	Adipose
16	chr8:125644200-125648200	Weak transcription	Gastric	stomach
17	chr8:125644200-125648200	Weak transcription	Pancreas	Pancrea
18	chr8:125644200-125649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:125644200-125649000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:125644200-125649000	Weak transcription	Esophagus	oesophagus
21	chr8:125644200-125653800	Weak transcription	Hela-S3	cervix
22	chr8:125644400-125648200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:125644400-125649000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:125644400-125649200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:125644600-125649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
28	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:125646000-125649200	Enhancers	Thymus	Thymus
30	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
31	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:125646600-125651200	Enhancers	Primary T cells from cord blood	blood
34	chr8:125646600-125651200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:125646600-125651200	Enhancers	Liver	Liver
36	chr8:125646600-125651200	Enhancers	Dnd41	blood
37	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:125646800-125648000	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:125646800-125648800	Enhancers	K562	blood
43	chr8:125646800-125649600	Enhancers	Fetal Intestine Small	intestine
44	chr8:125646800-125650200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:125647000-125648000	Enhancers	Brain Angular Gyrus	brain
47	chr8:125647000-125648000	Enhancers	Brain Hippocampus Middle	brain
48	chr8:125647000-125648400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:125647000-125649200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:125647000-125649800	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links