Variant report

Variant	rs7002336
Chromosome Location	chr8:10591509-10591510
allele	C/T
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	GATA3	chr8:10591504-10592204	MCF-7	breast:	n/a	n/a
2	MAX	chr8:10591478-10592386	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:10591506-10592469	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr8:10591455-10591743	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10447712..10448262-chr8:10591419..10591945,2	MCF-7	breast:

Variant related genes	Relation type
SOX7	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60167323	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7009920	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73200724	0.87[EUR][1000 genomes]
rs7825147	0.88[EUR][1000 genomes]
rs7827270	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7838335	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr8:10587200-10592000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
5	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr8:10588200-10591600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr8:10588400-10591600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr8:10588400-10592000	Enhancers	Lung	lung
10	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr8:10588600-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
15	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
17	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
18	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:10590000-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:10590000-10592000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:10590200-10591800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:10590200-10591800	Active TSS	Brain Substantia Nigra	brain
24	chr8:10590200-10592000	Flanking Active TSS	NHEK	skin
25	chr8:10590200-10592200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:10590400-10592200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:10590400-10592200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr8:10590400-10592400	Bivalent Enhancer	Fetal Thymus	thymus
29	chr8:10590600-10591600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:10590600-10591800	Bivalent/Poised TSS	HSMM	muscle
31	chr8:10590600-10592400	Enhancers	HMEC	breast
32	chr8:10590800-10592000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:10590800-10592000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:10590800-10592000	Weak transcription	Gastric	stomach
35	chr8:10590800-10592200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chr8:10590800-10592400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:10590800-10592400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr8:10591000-10591600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:10591000-10591800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:10591000-10591800	Active TSS	Right Atrium	heart
41	chr8:10591000-10592000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:10591000-10592000	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr8:10591200-10591600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:10591200-10591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:10591200-10591600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:10591200-10591600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:10591200-10591600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:10591200-10591600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr8:10591200-10591600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:10591200-10591600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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