Variant report

Variant	rs10103175
Chromosome Location	chr8:124370953-124370954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124359668..124362710-chr8:124370089..124372806,3	K562	blood:

Variant related genes	Relation type
ENSG00000207704	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10089968	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104148	0.83[AMR][1000 genomes]
rs11989904	0.83[AMR][1000 genomes]
rs11991144	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11991436	1.00[MEX][hapmap]
rs11992098	1.00[MEX][hapmap]
rs11996182	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs11997908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16898127	1.00[MEX][hapmap]
rs16898257	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1869248	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs28461952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857955	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs5001348	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs6987701	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs6990003	0.83[AMR][1000 genomes]
rs7003464	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs7007690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7009541	0.83[AMR][1000 genomes]
rs7817491	1.00[ASW][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs900629	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv891428	chr8:124347228-124386782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124325000-124379400	Weak transcription	Right Ventricle	heart
2	chr8:124326400-124372600	Weak transcription	Gastric	stomach
3	chr8:124328400-124386400	Weak transcription	Lung	lung
4	chr8:124329000-124372600	Weak transcription	Esophagus	oesophagus
5	chr8:124329000-124379600	Weak transcription	Pancreas	Pancrea
6	chr8:124329400-124385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:124329600-124384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:124329800-124394200	Strong transcription	Dnd41	blood
9	chr8:124330200-124386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124330400-124383200	Weak transcription	Colonic Mucosa	Colon
11	chr8:124330400-124393400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:124330400-124394600	Strong transcription	Fetal Thymus	thymus
13	chr8:124330600-124393000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:124331000-124377600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:124331600-124383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:124331800-124372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:124332600-124372200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:124332600-124372600	Weak transcription	Spleen	Spleen
19	chr8:124333000-124387600	Weak transcription	Fetal Brain Male	brain
20	chr8:124333200-124371600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:124334400-124378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:124334800-124371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:124335200-124398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:124335400-124372200	Weak transcription	Brain Germinal Matrix	brain
25	chr8:124335600-124398600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:124336400-124384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:124337200-124372400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:124339600-124375000	Strong transcription	Hela-S3	cervix
29	chr8:124341600-124406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:124342800-124372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:124342800-124373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:124342800-124388000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:124344400-124386600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:124345600-124396400	Weak transcription	Psoas Muscle	Psoas
35	chr8:124347200-124375200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:124348600-124398400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:124349400-124398200	Weak transcription	Aorta	Aorta
38	chr8:124350000-124372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:124350000-124378600	Weak transcription	Fetal Brain Female	brain
40	chr8:124350000-124378600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:124350000-124379400	Weak transcription	Fetal Kidney	kidney
42	chr8:124350200-124371400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:124350200-124393400	Weak transcription	Small Intestine	intestine
44	chr8:124350200-124396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:124350400-124371800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:124350400-124373600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:124350400-124382800	Weak transcription	Brain Anterior Caudate	brain
48	chr8:124352000-124372200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:124352800-124372400	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:124353400-124372800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links