Variant report

Variant	rs28634259
Chromosome Location	chr8:103664003-103664004
allele	A/C
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103663739..103664942-chr8:103822777..103823773,7	K562	blood:
2	chr8:103594676..103598012-chr8:103663554..103666126,3	K562	blood:
3	chr8:103663684..103664744-chr8:103826225..103827430,7	K562	blood:
4	chr8:103663793..103664694-chr8:103714068..103714851,2	MCF-7	breast:
5	chr8:103421691..103424111-chr8:103663160..103665928,2	K562	blood:
6	chr8:103663782..103664588-chr8:103819699..103820414,2	MCF-7	breast:
7	chr8:103663783..103664326-chr8:103784923..103785885,2	MCF-7	breast:
8	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
9	chr8:103663750..103664726-chr8:103822777..103823778,9	MCF-7	breast:
10	chr8:103656192..103659911-chr8:103661588..103665450,4	K562	blood:
11	chr8:103647192..103649158-chr8:103663461..103665768,2	K562	blood:
12	chr8:103663770..103664668-chr8:103818655..103819543,2	K562	blood:
13	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
14	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
15	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
16	chr8:103663769..103664703-chr8:103826560..103827518,4	MCF-7	breast:
17	chr8:103597224..103597751-chr8:103663617..103664253,2	MCF-7	breast:
18	chr8:103612611..103613494-chr8:103663794..103664718,2	MCF-7	breast:
19	chr8:103661922..103664051-chr8:103767209..103770139,2	MCF-7	breast:
20	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
21	chr8:103663808..103666386-chr8:103714227..103715917,2	K562	blood:
22	chr8:103597916..103598469-chr8:103663761..103664702,2	MCF-7	breast:
23	chr8:103594966..103597715-chr8:103663709..103665482,2	MCF-7	breast:
24	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10087919	1.00[AMR][1000 genomes]
rs10095268	1.00[AMR][1000 genomes]
rs10096528	1.00[AMR][1000 genomes]
rs10109094	1.00[AMR][1000 genomes]
rs11985825	1.00[AMR][1000 genomes]
rs28533866	1.00[AMR][1000 genomes]
rs28536167	1.00[AMR][1000 genomes]
rs28536483	1.00[AMR][1000 genomes]
rs28537271	1.00[AMR][1000 genomes]
rs28541795	1.00[AMR][1000 genomes]
rs28566564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28648881	1.00[AMR][1000 genomes]
rs60806270	1.00[AMR][1000 genomes]
rs9694619	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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103659800-103664200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:103660000-103664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:103660600-103664200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:103661600-103664600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103661800-103664200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr8:103661800-103664200	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr8:103661800-103664200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:103661800-103664600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:103662000-103664200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:103662000-103664200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:103662000-103664200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr8:103662000-103664200	Genic enhancers	Left Ventricle	heart
13	chr8:103662000-103664200	Genic enhancers	Pancreas	Pancrea
14	chr8:103662200-103664200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:103662200-103664200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
16	chr8:103662200-103664200	Genic enhancers	Esophagus	oesophagus
17	chr8:103662200-103664200	Genic enhancers	Right Ventricle	heart
18	chr8:103662200-103664200	Genic enhancers	Spleen	Spleen
19	chr8:103662200-103664200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr8:103662200-103664400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:103662200-103664400	Genic enhancers	K562	blood
22	chr8:103662200-103664800	Genic enhancers	Placenta	Placenta
23	chr8:103662400-103664200	Strong transcription	Aorta	Aorta
24	chr8:103662400-103664400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:103662400-103664800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:103662600-103665000	Weak transcription	Brain Angular Gyrus	brain
27	chr8:103662800-103664200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:103662800-103664200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:103662800-103664200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
30	chr8:103662800-103664400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:103662800-103664400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
32	chr8:103662800-103665800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
33	chr8:103663000-103664200	Genic enhancers	Fetal Stomach	stomach
34	chr8:103663000-103664400	Genic enhancers	Fetal Intestine Large	intestine
35	chr8:103663200-103664200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:103663200-103664200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:103663200-103664200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:103663200-103664200	Genic enhancers	Colonic Mucosa	Colon
39	chr8:103663200-103664200	Genic enhancers	Fetal Thymus	thymus
40	chr8:103663200-103664200	Genic enhancers	Placenta Amnion	Placenta Amnion
41	chr8:103663200-103664200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
42	chr8:103663200-103664200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr8:103663200-103664200	Genic enhancers	NHDF-Ad	bronchial
44	chr8:103663200-103664400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:103663200-103664400	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:103663200-103664400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr8:103663200-103664400	Genic enhancers	HUVEC	blood vessel
48	chr8:103663200-103664400	Genic enhancers	NHEK	skin
49	chr8:103663200-103664600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:103663200-103664800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum

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