Variant report

Variant	rs7012321
Chromosome Location	chr8:105338391-105338392
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105333966..105336509-chr8:105337874..105340861,2	MCF-7	breast:
2	chr8:105265353..105266336-chr8:105337969..105339086,6	MCF-7	breast:
3	chr8:105337797..105338457-chr8:105454352..105454951,2	K562	blood:
4	chr8:105337370..105338530-chr8:105401853..105402693,6	MCF-7	breast:
5	chr8:105337989..105338553-chr8:105429036..105429599,2	MCF-7	breast:
6	chr8:105142223..105142821-chr8:105337869..105338754,2	MCF-7	breast:
7	chr11:47787172..47789747-chr8:105336978..105339290,2	MCF-7	breast:
8	chr8:105334748..105339134-chr8:105341304..105344043,3	K562	blood:
9	chr8:105257993..105258512-chr8:105337979..105338832,2	MCF-7	breast:
10	chr8:105337042..105339445-chr8:105429188..105431840,2	MCF-7	breast:
11	chr8:105337189..105338874-chr8:105429884..105430858,12	MCF-7	breast:
12	chr8:105336434..105338870-chr8:105429676..105431429,32	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147647	Chromatin interaction
ENSG00000109920	Chromatin interaction

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

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

rs_ID	r²[population]
rs2458424	0.90[ASN][1000 genomes]
rs4299971	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734100	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840811	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105332200-105340800	Weak transcription	Spleen	Spleen
2	chr8:105332600-105341600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:105333000-105341000	Weak transcription	Primary B cells from cord blood	blood
4	chr8:105333600-105342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:105335400-105339800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:105335600-105338400	Enhancers	Ovary	ovary
7	chr8:105335800-105342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:105336400-105342400	Weak transcription	K562	blood
9	chr8:105336600-105342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:105336800-105342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:105336800-105342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:105337000-105338400	Enhancers	Colon Smooth Muscle	Colon
13	chr8:105337400-105338400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:105337800-105338400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:105337800-105338400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:105337800-105338400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:105337800-105338400	Enhancers	Adipose Nuclei	Adipose
18	chr8:105337800-105338400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr8:105337800-105338400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:105337800-105338400	Enhancers	Fetal Intestine Large	intestine
21	chr8:105337800-105338400	Enhancers	Placenta	Placenta
22	chr8:105337800-105338400	Active TSS	A549	lung
23	chr8:105337800-105338400	Active TSS	Osteobl	bone
24	chr8:105337800-105338600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:105337800-105338600	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:105337800-105338600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:105337800-105338600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr8:105337800-105339200	Enhancers	Fetal Thymus	thymus
29	chr8:105337800-105339400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:105337800-105339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:105337800-105339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:105337800-105339800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:105337800-105341000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:105337800-105343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:105338000-105338400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:105338000-105338400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:105338000-105338400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:105338000-105338400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:105338000-105338400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:105338000-105338400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:105338000-105338400	Flanking Active TSS	Liver	Liver
42	chr8:105338000-105338400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr8:105338000-105338400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:105338000-105338400	Enhancers	HepG2	liver
45	chr8:105338000-105338400	Enhancers	NH-A	brain
46	chr8:105338000-105338600	Enhancers	Thymus	Thymus
47	chr8:105338000-105338800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:105338000-105338800	Enhancers	Fetal Lung	lung
49	chr8:105338000-105338800	Enhancers	Fetal Muscle Leg	muscle
50	chr8:105338000-105338800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links