Variant report

Variant	rs201648813
Chromosome Location	chr7:99795728-99795729
allele	C/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	chr7:99795629-99796469	K562	blood:	n/a	n/a
2	POLR2A	chr7:99795680-99796004	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99795597-99796004	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:99795650-99795994	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99794786..99797012-chr7:99801296..99803017,2	K562	blood:

Variant related genes	Relation type
STAG3	TF binding region
ENSG00000066923	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv981556	chr7:99795259-99797176	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99775800-99798000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:99778600-99797800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:99790000-99808800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:99791400-99806800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:99793200-99796800	Weak transcription	Spleen	Spleen
7	chr7:99793200-99797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:99793400-99798000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:99793400-99806000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:99793600-99805800	Weak transcription	Primary T cells from cord blood	blood
11	chr7:99794000-99798200	Weak transcription	Fetal Brain Female	brain
12	chr7:99794600-99797800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:99795000-99795800	Enhancers	Brain Angular Gyrus	brain
14	chr7:99795000-99798800	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:99795200-99796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:99795200-99797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:99795400-99795800	Enhancers	Thymus	Thymus
18	chr7:99795400-99795800	Weak transcription	GM12878-XiMat	blood
19	chr7:99795400-99796000	Enhancers	Brain Anterior Caudate	brain
20	chr7:99795400-99796400	Enhancers	Brain Hippocampus Middle	brain
21	chr7:99795400-99796400	Enhancers	Brain Substantia Nigra	brain
22	chr7:99795400-99797600	Enhancers	K562	blood
23	chr7:99795400-99798800	Enhancers	Primary B cells from cord blood	blood
24	chr7:99795600-99796200	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:99795600-99796400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:99795600-99797000	Weak transcription	Fetal Thymus	thymus
27	chr7:99795600-99812200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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