Variant report

Variant	rs2303530
Chromosome Location	chr8:126052350-126052351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:126052114-126052615	K562	blood:	n/a	n/a
2	TCF12	chr8:126051789-126052398	SK-N-SH	brain:	n/a	n/a
3	EP300	chr8:126051023-126052518	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126041136..126043369-chr8:126049940..126052730,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0196-AS1	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1004350	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1004676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10089455	1.00[ASN][1000 genomes]
rs10089574	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10089792	1.00[ASN][1000 genomes]
rs10092363	1.00[ASN][1000 genomes]
rs10093770	1.00[CEU][hapmap]
rs10095627	1.00[ASN][1000 genomes]
rs10105624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10113495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10505449	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10505450	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10505451	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11542889	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs11985488	0.97[ASN][1000 genomes]
rs11985490	0.97[ASN][1000 genomes]
rs11985491	0.97[ASN][1000 genomes]
rs11985518	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11986264	1.00[ASN][1000 genomes]
rs11986339	1.00[ASN][1000 genomes]
rs11988640	1.00[ASN][1000 genomes]
rs11989471	0.88[ASN][1000 genomes]
rs11989475	0.88[ASN][1000 genomes]
rs11993043	0.97[ASN][1000 genomes]
rs11993478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11993484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11993487	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11996035	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11996796	0.97[ASN][1000 genomes]
rs11996868	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16900175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900178	1.00[CEU][hapmap]
rs16900180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900217	1.00[CEU][hapmap]
rs16900221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900266	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900269	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900307	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900364	0.88[ASN][1000 genomes]
rs16900368	0.88[ASN][1000 genomes]
rs16900369	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1802526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2009959	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2272682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2293985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2293987	1.00[ASN][1000 genomes]
rs2303521	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303526	1.00[ASN][1000 genomes]
rs2303527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2384917	0.88[ASN][1000 genomes]
rs28386832	1.00[ASN][1000 genomes]
rs28394364	0.88[ASN][1000 genomes]
rs28447527	0.85[ASN][1000 genomes]
rs28453073	1.00[ASN][1000 genomes]
rs28465401	1.00[ASN][1000 genomes]
rs28489055	1.00[ASN][1000 genomes]
rs28498361	1.00[ASN][1000 genomes]
rs28546275	1.00[ASN][1000 genomes]
rs28610111	0.94[ASN][1000 genomes]
rs28612575	1.00[ASN][1000 genomes]
rs28624116	0.88[ASN][1000 genomes]
rs28633402	0.94[ASN][1000 genomes]
rs28653090	0.88[ASN][1000 genomes]
rs28685667	0.88[ASN][1000 genomes]
rs28702720	0.97[ASN][1000 genomes]
rs28714511	0.88[ASN][1000 genomes]
rs2891636	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2891655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3736666	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3736667	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3763594	1.00[ASN][1000 genomes]
rs3763595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3763596	1.00[ASN][1000 genomes]
rs3765213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3765214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3793445	0.88[ASN][1000 genomes]
rs3793446	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3815873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3860841	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3860842	1.00[ASN][1000 genomes]
rs4355790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4421364	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4421365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4425776	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4458896	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4570178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4570179	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57162779	1.00[ASN][1000 genomes]
rs57431630	1.00[ASN][1000 genomes]
rs57701401	1.00[ASN][1000 genomes]
rs61506267	1.00[ASN][1000 genomes]
rs6470329	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470330	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6470331	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6470332	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6470333	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6470334	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6470335	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6651231	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6651232	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6980470	0.88[ASN][1000 genomes]
rs6981141	0.88[ASN][1000 genomes]
rs6981156	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6981164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6981781	0.88[ASN][1000 genomes]
rs6982708	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6989548	1.00[ASN][1000 genomes]
rs6997862	1.00[JPT][hapmap]
rs7002684	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7002783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7007276	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs72497351	0.97[ASN][1000 genomes]
rs73704517	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704519	0.88[AMR][1000 genomes]
rs7465254	0.97[ASN][1000 genomes]
rs7812319	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7813244	0.85[ASN][1000 genomes]
rs7817303	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7831848	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs7832481	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs7844453	1.00[JPT][hapmap]
rs9297710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9693702	1.00[ASN][1000 genomes]
rs9792114	0.88[ASN][1000 genomes]
rs9940	1.00[CEU][hapmap]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
8	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
14	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:126040200-126053600	Strong transcription	Spleen	Spleen
20	chr8:126040400-126064400	Strong transcription	Fetal Muscle Leg	muscle
21	chr8:126040400-126064600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:126042200-126052400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:126042200-126053200	Strong transcription	Thymus	Thymus
24	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:126042400-126052400	Strong transcription	Left Ventricle	heart
26	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:126042600-126064200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr8:126042800-126071800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:126042800-126072600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
33	chr8:126043000-126075800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:126043000-126084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:126043000-126096000	Strong transcription	Liver	Liver
36	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
37	chr8:126043800-126075800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:126043800-126076400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:126043800-126082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:126044000-126072200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:126044600-126055200	Weak transcription	HepG2	liver
42	chr8:126044600-126067600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:126044600-126071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:126044800-126056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:126044800-126071800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:126045200-126058400	Weak transcription	Stomach Mucosa	stomach
47	chr8:126045400-126056400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:126045600-126055600	Weak transcription	NHLF	lung
49	chr8:126045600-126095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:126046200-126066200	Strong transcription	Primary B cells from cord blood	blood

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