Variant report

Variant	rs34812926
Chromosome Location	chr8:8637277-8637278
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:
2	chr8:8636970..8637812-chr8:8846579..8847342,2	MCF-7	breast:
3	chr8:8634836..8637648-chr8:8864652..8866241,2	K562	blood:
4	chr8:8635419..8638505-chr8:8640387..8644598,4	K562	blood:
5	chr8:8637196..8637781-chr8:8800088..8800758,2	MCF-7	breast:
6	chr8:8636919..8637702-chr8:8799876..8800811,2	MCF-7	breast:
7	chr8:8636902..8637804-chr8:8750649..8751239,2	MCF-7	breast:
8	chr8:8637005..8638649-chr8:8642438..8644598,2	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10104390	0.92[EUR][1000 genomes]
rs13275243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13279453	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13281511	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17629123	0.82[EUR][1000 genomes]
rs3087732	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34393149	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34861302	0.81[AMR][1000 genomes]
rs34927688	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35455911	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35834644	0.88[EUR][1000 genomes]
rs4840361	0.84[EUR][1000 genomes]
rs4841018	0.81[EUR][1000 genomes]
rs4841019	0.82[EUR][1000 genomes]
rs4841039	0.81[EUR][1000 genomes]
rs7816942	0.82[EUR][1000 genomes]
rs7817377	0.82[EUR][1000 genomes]
rs7817987	0.82[EUR][1000 genomes]
rs7838550	0.82[EUR][1000 genomes]
rs7842836	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8621400-8646200	Weak transcription	Right Atrium	heart
2	chr8:8630600-8642200	Weak transcription	Fetal Brain Female	brain
3	chr8:8630800-8639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:8630800-8641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8630800-8646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:8630800-8647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:8631000-8639600	Weak transcription	Gastric	stomach
8	chr8:8631000-8640200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:8631000-8641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:8631000-8642000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:8631000-8646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:8631000-8647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:8631000-8648400	Weak transcription	Fetal Stomach	stomach
14	chr8:8631200-8637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:8631200-8639400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:8631200-8641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:8631200-8641200	Weak transcription	Aorta	Aorta
18	chr8:8631200-8652400	Weak transcription	Ovary	ovary
19	chr8:8631400-8638200	Weak transcription	Lung	lung
20	chr8:8631400-8639400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:8631600-8640200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:8631800-8638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:8632000-8637400	Weak transcription	Stomach Mucosa	stomach
24	chr8:8633000-8639400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8633200-8640000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:8633200-8640600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:8633200-8641200	Weak transcription	HSMMtube	muscle
28	chr8:8633800-8641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:8634000-8639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:8635000-8638600	Enhancers	Fetal Thymus	thymus
31	chr8:8635200-8638800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:8635800-8639800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:8635800-8640000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:8636000-8637400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:8636000-8637400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:8636200-8640200	Weak transcription	Dnd41	blood
37	chr8:8636400-8637400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:8636400-8637400	Weak transcription	Thymus	Thymus
39	chr8:8636400-8637400	Weak transcription	K562	blood
40	chr8:8636800-8638600	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:8636800-8638600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:8636800-8638600	Enhancers	Spleen	Spleen
43	chr8:8637000-8637400	Enhancers	Liver	Liver
44	chr8:8637000-8638000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:8637000-8638200	Enhancers	A549	lung
46	chr8:8637000-8638600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:8637000-8638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:8637000-8640400	Weak transcription	Fetal Kidney	kidney
49	chr8:8637200-8637400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:8637200-8637400	Enhancers	HUVEC	blood vessel

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