Variant report

Variant	rs34788463
Chromosome Location	chr8:100028003-100028004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:99677331..99680175-chr8:100027131..100030033,2	K562	blood:
4	chr8:100027143..100028710-chr8:100248941..100251194,2	MCF-7	breast:
5	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
6	chr8:100025833..100028756-chr8:100100624..100103335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271930	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10091639	0.84[AMR][1000 genomes]
rs10094807	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10098138	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10103431	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10105136	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112186	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10113197	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808361	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10955192	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955194	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955195	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955196	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955204	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10955206	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773983	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11784152	0.86[EUR][1000 genomes]
rs11988987	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11989177	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11992517	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11994620	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056311	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12549438	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12676262	0.81[AMR][1000 genomes]
rs12678371	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13250430	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250549	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13265237	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13271726	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13275250	0.86[ASN][1000 genomes]
rs13275821	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1989645	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28479500	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28617503	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28739504	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019295	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35974745	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3890706	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3922710	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4132545	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4366054	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4374957	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4380901	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4490802	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4510823	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517095	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4596618	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4612311	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734419	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734420	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734426	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4735589	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735591	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735592	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735600	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4735601	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5019794	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55893057	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58752318	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59264629	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60042922	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6468654	0.82[AMR][1000 genomes]
rs6468655	0.86[AMR][1000 genomes]
rs6468656	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468658	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6468660	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6468661	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6468664	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6468668	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6468670	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6468673	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6468674	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6651157	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988226	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989751	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999263	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009650	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7011067	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7011752	0.83[AMR][1000 genomes]
rs7012147	0.81[AMR][1000 genomes]
rs7012312	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7012513	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014877	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72668472	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72670298	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72670300	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs734034	0.90[ASN][1000 genomes]
rs7341678	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459833	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7460625	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7461615	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7463462	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7464318	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7464742	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464775	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7465566	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7816323	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7816673	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7816843	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7817200	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818037	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7824113	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826207	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7832772	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7835049	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7837218	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7837669	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837937	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7843899	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7844224	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9297288	0.84[EUR][1000 genomes]
rs9642957	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9774546	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9792181	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking 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	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100026200-100036800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:100026200-100044000	Weak transcription	Esophagus	oesophagus
4	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:100026200-100047000	Weak transcription	Gastric	stomach
6	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
7	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:100026400-100028200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:100026400-100028200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:100026400-100029200	Weak transcription	Placenta	Placenta
11	chr8:100026400-100029400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:100026400-100030000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:100026400-100030800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:100026400-100031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:100026400-100033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:100026400-100036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:100026400-100036200	Weak transcription	Psoas Muscle	Psoas
18	chr8:100026400-100036400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:100026400-100036400	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:100026400-100036400	Weak transcription	Thymus	Thymus
21	chr8:100026400-100036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:100026400-100037400	Weak transcription	Stomach Mucosa	stomach
23	chr8:100026400-100039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:100026400-100040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:100026400-100044000	Weak transcription	Aorta	Aorta
26	chr8:100026400-100046200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:100026600-100030400	Weak transcription	Pancreas	Pancrea
28	chr8:100026600-100031800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:100026600-100038600	Weak transcription	Left Ventricle	heart
30	chr8:100026600-100043800	Weak transcription	Spleen	Spleen
31	chr8:100026600-100047000	Weak transcription	Lung	lung
32	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:100026800-100028200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:100026800-100031400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:100026800-100031600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:100026800-100031800	Weak transcription	Fetal Heart	heart
37	chr8:100026800-100035600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:100027000-100028200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:100027000-100028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:100027000-100028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:100027000-100028200	Weak transcription	Fetal Thymus	thymus
42	chr8:100027000-100028200	Weak transcription	HSMM	muscle
43	chr8:100027000-100028200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:100027000-100029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:100027000-100029000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:100027000-100030000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:100027000-100030200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:100027000-100031000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:100027000-100031600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:100027000-100031600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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