Variant report

Variant	rs7001228
Chromosome Location	chr8:126014576-126014577
allele	C/G
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	chr8:126009840..126012235-chr8:126013195..126016110,4	K562	blood:
2	chr8:126013869..126016099-chr8:126016207..126018395,2	K562	blood:
3	chr8:125866182..125867847-chr8:126013672..126016606,2	MCF-7	breast:
4	chr8:126014428..126016789-chr8:126018572..126020682,2	K562	blood:
5	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
6	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
7	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
8	chr8:126014427..126016816-chr8:126029533..126032049,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10086441	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087191	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10087246	0.90[ASN][1000 genomes]
rs10102066	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10102230	0.83[ASN][1000 genomes]
rs10103150	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10216429	0.89[ASN][1000 genomes]
rs10216437	0.89[ASN][1000 genomes]
rs10481152	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1156712	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1156713	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12542833	0.87[ASN][1000 genomes]
rs12543024	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12548159	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12548192	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1319792	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13249949	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13251808	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13251846	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13257850	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13265195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900177	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900238	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900316	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2033130	0.89[ASN][1000 genomes]
rs2382998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28706061	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28760092	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28873392	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs36090120	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750234	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3750235	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3750236	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3750237	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3793402	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3793447	0.80[ASN][1000 genomes]
rs3860845	0.83[ASN][1000 genomes]
rs4007685	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4347009	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870932	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4870933	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6470327	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6470328	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6651230	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6989560	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7003069	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007960	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7813917	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7825911	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9297707	0.90[ASN][1000 genomes]
rs9297708	0.90[ASN][1000 genomes]
rs966946	0.90[ASN][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	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
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:126010000-126014600	Active TSS	NHLF	lung
9	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
15	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood
17	chr8:126010200-126016400	Active TSS	Fetal Brain Female	brain
18	chr8:126010400-126014800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr8:126011000-126015600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:126011400-126014800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:126011600-126016600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:126011800-126016600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:126012000-126014600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:126012600-126017400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:126012600-126017600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:126012600-126017800	Weak transcription	Psoas Muscle	Psoas
29	chr8:126012600-126019800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:126012600-126020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:126012600-126020400	Weak transcription	Left Ventricle	heart
32	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
34	chr8:126013000-126014600	Transcr. at gene 5' and 3'	HMEC	breast
35	chr8:126013000-126016600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:126013200-126015000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:126013200-126015400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:126013200-126015400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:126013200-126018000	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr8:126013200-126019600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:126013200-126024200	Weak transcription	Gastric	stomach
42	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:126013400-126014600	Enhancers	Stomach Mucosa	stomach
45	chr8:126013400-126015400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:126013400-126017600	Weak transcription	Adipose Nuclei	Adipose
47	chr8:126013400-126017800	Weak transcription	Fetal Intestine Large	intestine
48	chr8:126013400-126029200	Weak transcription	Lung	lung
49	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
50	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion

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