Variant report

Variant	rs116400542
Chromosome Location	chr7:108097672-108097673
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	SIN3A	chr7:108097519-108097734	H1-hESC	embryonic stem cell:	n/a	n/a
2	HA-E2F1	chr7:108094960-108097697	MCF-7	breast:	n/a	chr7:108095839-108095848 chr7:108095496-108095505 chr7:108097430-108097439 chr7:108097075-108097085 chr7:108097189-108097201 chr7:108096365-108096374 chr7:108096253-108096262 chr7:108095502-108095514 chr7:108097162-108097171 chr7:108096814-108096823
3	ZNF143	chr7:108097660-108097999	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107996666..108000210-chr7:108094187..108098858,6	MCF-7	breast:
2	chr7:107998008..108001072-chr7:108096682..108098603,3	MCF-7	breast:
3	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction
ENSG00000266112	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv3358442	chr7:108095941-108098489	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108094600-108097800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:108094800-108097800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
4	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr7:108095200-108097800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:108095200-108097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:108095200-108097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:108095200-108097800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:108096200-108097800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:108096400-108097800	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:108096600-108097800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:108096600-108097800	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr7:108096600-108097800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr7:108096800-108097800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:108096800-108097800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr7:108096800-108098000	Enhancers	Fetal Brain Male	brain
19	chr7:108097000-108097800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:108097200-108097800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
21	chr7:108097200-108097800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr7:108097200-108097800	Bivalent Enhancer	Fetal Heart	heart
23	chr7:108097200-108097800	Flanking Active TSS	HUVEC	blood vessel
24	chr7:108097200-108100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
26	chr7:108097400-108097800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:108097400-108097800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:108097400-108097800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr7:108097400-108097800	Active TSS	Spleen	Spleen
30	chr7:108097400-108097800	Flanking Active TSS	A549	lung
31	chr7:108097400-108098000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:108097400-108098000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr7:108097400-108098000	Enhancers	Placenta	Placenta
34	chr7:108097400-108098200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr7:108097400-108100000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:108097600-108097800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr7:108097600-108097800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr7:108097600-108097800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:108097600-108097800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:108097600-108097800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
41	chr7:108097600-108097800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:108097600-108097800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:108097600-108097800	Enhancers	Brain Anterior Caudate	brain
44	chr7:108097600-108097800	Enhancers	Brain Hippocampus Middle	brain
45	chr7:108097600-108097800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
46	chr7:108097600-108097800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr7:108097600-108097800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr7:108097600-108097800	Bivalent Enhancer	Left Ventricle	heart
49	chr7:108097600-108097800	Enhancers	Pancreas	Pancrea
50	chr7:108097600-108097800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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