Variant report

Variant	rs4873646
Chromosome Location	chr8:53380265-53380266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:53379300..53382260-chr8:53389036..53391579,2	MCF-7	breast:
2	chr8:53379006..53383439-chr8:53384188..53388259,4	MCF-7	breast:
3	chr8:53377547..53380484-chr8:53382020..53384595,2	MCF-7	breast:
4	chr8:53372593..53375156-chr8:53377269..53381843,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147488	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10958319	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10958322	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10958323	0.83[ASN][1000 genomes]
rs11774725	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11779921	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11785415	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12156389	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12550288	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12676357	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13271008	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13274219	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1371956	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1371957	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1440794	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34129898	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34248810	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3906806	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4144345	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4873644	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873645	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs60679649	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67833340	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6989658	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7008270	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7016428	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9643803	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817380	chr8:53207304-54016570	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1032281	chr8:53241539-53383025	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831317	chr8:53245921-53413275	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv890900	chr8:53265220-53491159	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890901	chr8:53265220-53528204	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761192	chr8:53278309-53613251	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv917043	chr8:53299833-53856743	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv917309	chr8:53299908-53898571	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1016949	chr8:53300989-53530814	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1026748	chr8:53300989-53917456	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1034284	chr8:53302090-53919610	Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv429915	chr8:53318647-53603847	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv1019365	chr8:53320911-53560068	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv539610	chr8:53320911-53560068	Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv1019641	chr8:53320911-53917456	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv539611	chr8:53320911-53917456	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	nsv890902	chr8:53330582-53949560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
18	nsv1032726	chr8:53332059-53766425	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv539612	chr8:53332059-53766425	Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv1017736	chr8:53332059-53856829	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	nsv539613	chr8:53332059-53856829	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
22	nsv949330	chr8:53334349-53603859	Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
23	nsv1027250	chr8:53341086-53400608	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv890903	chr8:53342616-53528204	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1017130	chr8:53352941-53861955	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
26	esv1840247	chr8:53353780-53381864	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1022781	chr8:53358175-53398226	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1033618	chr8:53358820-53824589	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
29	nsv539614	chr8:53358820-53824589	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
30	nsv1019474	chr8:53358820-53855933	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
31	nsv539615	chr8:53358820-53855933	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
32	nsv1023921	chr8:53358820-53917456	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
33	nsv539616	chr8:53358820-53917456	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
34	esv2764065	chr8:53364649-53887932	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53379400-53380400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:53379400-53380400	Active TSS	A549	lung
3	chr8:53379400-53380400	Flanking Active TSS	HepG2	liver
4	chr8:53379400-53380600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:53379400-53380600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:53379400-53380600	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:53379600-53380400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:53379600-53380400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:53379600-53380400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:53379600-53380400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:53379600-53380400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:53379600-53380400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:53379600-53380400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:53379600-53380400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr8:53379600-53380400	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:53379600-53380400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:53379600-53380400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:53379600-53380400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:53379600-53380400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:53379600-53380400	Active TSS	Brain Substantia Nigra	brain
21	chr8:53379600-53380400	Active TSS	Fetal Intestine Large	intestine
22	chr8:53379600-53380400	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr8:53379600-53380400	Active TSS	Pancreas	Pancrea
24	chr8:53379600-53380400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr8:53379600-53380400	Active TSS	NH-A	brain
26	chr8:53379600-53380600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:53379600-53380600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:53379600-53380600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:53379600-53380600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:53379600-53380600	Active TSS	Brain Angular Gyrus	brain
31	chr8:53379600-53380600	Active TSS	Brain Anterior Caudate	brain
32	chr8:53379600-53380600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:53379800-53380400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:53379800-53380400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:53379800-53380400	Enhancers	Fetal Muscle Leg	muscle
36	chr8:53379800-53380400	Active TSS	Fetal Stomach	stomach
37	chr8:53379800-53380400	Active TSS	Psoas Muscle	Psoas
38	chr8:53379800-53380400	Active TSS	Right Atrium	heart
39	chr8:53379800-53380400	Flanking Active TSS	HMEC	breast
40	chr8:53379800-53380400	Flanking Active TSS	HUVEC	blood vessel
41	chr8:53379800-53380600	Active TSS	Brain Hippocampus Middle	brain
42	chr8:53380000-53380400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:53380000-53380400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:53380000-53380400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:53380000-53380600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:53380000-53380600	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:53380000-53380600	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:53380200-53380400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:53380200-53380400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:53380200-53380400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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