Variant report

Variant	rs542440455
Chromosome Location	chr7:100466757-100466758
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	chr7:100466713-100467035	K562	blood:	n/a	n/a
2	PAX5	chr7:100466574-100466966	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
2	chr7:100448636..100452358-chr7:100462094..100466806,6	K562	blood:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000236305	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking 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	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	esv3382561	chr7:100466516-100468564	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100464600-100466800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:100464800-100467000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:100464800-100467000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:100464800-100467000	Active TSS	HSMM	muscle
6	chr7:100464800-100467200	Active TSS	NHDF-Ad	bronchial
7	chr7:100465400-100467800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:100465600-100466800	Flanking Active TSS	K562	blood
9	chr7:100465600-100467000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:100465600-100467000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:100465600-100467000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100465600-100467000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:100465600-100471800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:100465600-100472000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:100465800-100466800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100465800-100466800	Enhancers	Stomach Mucosa	stomach
19	chr7:100465800-100466800	Flanking Active TSS	NH-A	brain
20	chr7:100465800-100467000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:100465800-100467000	Flanking Active TSS	Hela-S3	cervix
22	chr7:100465800-100467400	Transcr. at gene 5' and 3'	NHLF	lung
23	chr7:100465800-100467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:100465800-100469400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:100465800-100472000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:100466000-100467000	Transcr. at gene 5' and 3'	NHEK	skin
27	chr7:100466000-100467200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:100466000-100467400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:100466000-100467800	Weak transcription	Gastric	stomach
30	chr7:100466000-100468000	Weak transcription	Primary T cells from cord blood	blood
31	chr7:100466000-100468000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:100466000-100471600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:100466000-100471800	Weak transcription	Fetal Brain Male	brain
34	chr7:100466200-100466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:100466200-100466800	Enhancers	Brain Substantia Nigra	brain
36	chr7:100466200-100466800	Enhancers	Fetal Lung	lung
37	chr7:100466200-100467000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:100466200-100467000	Enhancers	Pancreas	Pancrea
39	chr7:100466200-100467000	Enhancers	GM12878-XiMat	blood
40	chr7:100466200-100467000	Flanking Active TSS	Osteobl	bone
41	chr7:100466200-100467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:100466200-100467600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:100466200-100467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:100466200-100467800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:100466200-100468000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:100466200-100468000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:100466200-100468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:100466200-100468400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:100466200-100468600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:100466200-100468800	Weak transcription	Thymus	Thymus

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