Variant report

Variant	rs7836745
Chromosome Location	chr8:62552120-62552121
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	POLR2A	chr8:62551110-62553760	U87	brain:	n/a	n/a
2	POLR2A	chr8:62551796-62552557	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:62551754-62555015	U87	brain:	n/a	n/a
4	POLR2A	chr8:62551020-62553760	U87	brain:	n/a	n/a
5	SPI1	chr8:62551963-62552203	GM12891	blood:	n/a	n/a
6	POLR2A	chr8:62551729-62555032	U87	brain:	n/a	n/a
7	POLR2A	chr8:62551756-62553129	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:62551648-62553726	K562	blood:	n/a	n/a
9	POLR2A	chr8:62552092-62552445	HCT-116	colon:	n/a	n/a
10	POLR2A	chr8:62551327-62552572	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62550051..62552995-chr8:62624567..62627548,2	MCF-7	breast:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17205360	0.81[LWK][hapmap]
rs60657077	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
2	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
4	chr8:62526400-62552200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62530000-62552600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:62532000-62558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62532200-62555600	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr8:62532600-62565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:62534400-62561000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:62534800-62556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:62534800-62564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:62534800-62564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:62535400-62558400	Weak transcription	Aorta	Aorta
15	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:62536200-62564800	Strong transcription	NH-A	brain
17	chr8:62536400-62562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:62536600-62556600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:62536800-62552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:62536800-62558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:62537000-62552800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:62537200-62561000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:62538000-62552400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:62538200-62553400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:62538800-62554600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:62539800-62559600	Genic enhancers	A549	lung
27	chr8:62540000-62554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:62540200-62561000	Weak transcription	Brain Germinal Matrix	brain
29	chr8:62540400-62554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:62540400-62562200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:62540600-62566000	Strong transcription	Osteobl	bone
32	chr8:62541000-62552800	Weak transcription	Fetal Kidney	kidney
33	chr8:62541000-62557600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:62541000-62563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:62541400-62552400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:62541400-62553000	Weak transcription	K562	blood
37	chr8:62542000-62556600	Strong transcription	HMEC	breast
38	chr8:62542200-62565000	Strong transcription	Adipose Nuclei	Adipose
39	chr8:62542400-62556400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:62542600-62561000	Weak transcription	Fetal Thymus	thymus
41	chr8:62542600-62565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
44	chr8:62543800-62565000	Strong transcription	Hela-S3	cervix
45	chr8:62544200-62559400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:62544600-62552200	Weak transcription	Spleen	Spleen
47	chr8:62544600-62552200	Weak transcription	HSMMtube	muscle
48	chr8:62544600-62552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:62544600-62552400	Weak transcription	Pancreas	Pancrea
50	chr8:62544600-62555600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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