Variant report

Variant	rs374812706
Chromosome Location	chr7:100661309-100661310
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	EBF1	chr7:100660694-100661915	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
2	EBF1	chr7:100660677-100661945	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
3	MAZ	chr7:100659685-100661326	IMR90	lung:	n/a	chr7:100660284-100660294
4	EBF1	chr7:100660278-100662527	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
5	TCF12	chr7:100660816-100661704	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
2	chr7:100606234..100609871-chr7:100659072..100662376,5	K562	blood:

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000227053	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000169894	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised 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
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription 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 target site	39 gene(s)	inside rSNPs	diseases
13	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv1828583	chr7:100652181-100676353	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1823966	chr7:100652181-100693849	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3352938	chr7:100659732-100663130	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3405131	chr7:100660057-100662805	Enhancers Bivalent Enhancer Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3359760	chr7:100660332-100662580	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100660000-100662000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:100660200-100662000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:100660400-100661800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100660400-100661800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:100660600-100662200	Enhancers	Small Intestine	intestine
9	chr7:100661000-100661800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:100661000-100661800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:100661000-100661800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:100661000-100661800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:100661000-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:100661000-100661800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:100661000-100661800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:100661000-100661800	Weak transcription	Stomach Mucosa	stomach
17	chr7:100661000-100661800	Enhancers	GM12878-XiMat	blood
18	chr7:100661000-100661800	Weak transcription	NHEK	skin
19	chr7:100661000-100662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:100661000-100662000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:100661000-100662000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:100661000-100662000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:100661000-100662000	Weak transcription	HMEC	breast
24	chr7:100661000-100662400	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:100661000-100662400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:100661000-100662600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:100661000-100662600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:100661000-100662600	Weak transcription	Colonic Mucosa	Colon
29	chr7:100661000-100663200	Enhancers	Fetal Intestine Large	intestine
30	chr7:100661000-100663200	Enhancers	Fetal Intestine Small	intestine
31	chr7:100661000-100664600	Weak transcription	Spleen	Spleen
32	chr7:100661000-100676800	Weak transcription	Right Atrium	heart
33	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:100661200-100661400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:100661200-100661400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:100661200-100661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:100661200-100661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:100661200-100661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:100661200-100661600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:100661200-100661600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:100661200-100661600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:100661200-100661600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:100661200-100661800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:100661200-100661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:100661200-100661800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:100661200-100661800	Weak transcription	A549	lung
47	chr7:100661200-100662000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:100661200-100662000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:100661200-100662000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:100661200-100662000	Enhancers	HepG2	liver

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