Variant report

Variant	rs531861165
Chromosome Location	chr7:39873435-39873436
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	HA-E2F1	chr7:39872552-39873450	MCF-7	breast:	n/a	n/a
2	MAZ	chr7:39872742-39873451	IMR90	lung:	n/a	n/a
3	MXI1	chr7:39872720-39873544	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:39873390-39873615	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000231198	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	esv3366065	chr7:39871977-39874075	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39872400-39873600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:39872400-39873800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:39872400-39874200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:39872400-39874400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:39872400-39874400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:39872600-39873600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:39872600-39873600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:39872600-39873600	Active TSS	Brain Hippocampus Middle	brain
9	chr7:39872600-39873800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:39872600-39874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:39872600-39874200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:39872600-39874400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:39872600-39875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:39872800-39873600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:39872800-39873600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:39872800-39873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:39872800-39873600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
18	chr7:39872800-39873600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:39872800-39873800	Active TSS	Left Ventricle	heart
20	chr7:39872800-39873800	Active TSS	Right Ventricle	heart
21	chr7:39872800-39874400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr7:39873000-39873600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:39873000-39873600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:39873000-39873600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr7:39873000-39873600	Active TSS	Colon Smooth Muscle	Colon
26	chr7:39873000-39873600	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:39873000-39873600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:39873000-39873600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:39873000-39873800	Active TSS	Brain Anterior Caudate	brain
30	chr7:39873000-39873800	Active TSS	Brain Cingulate Gyrus	brain
31	chr7:39873000-39873800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:39873000-39873800	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:39873000-39874000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:39873000-39874000	Active TSS	Brain Angular Gyrus	brain
35	chr7:39873000-39874000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:39873000-39874000	Active TSS	Brain Substantia Nigra	brain
37	chr7:39873000-39874000	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr7:39873000-39874000	Bivalent Enhancer	Fetal Thymus	thymus
39	chr7:39873000-39874200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:39873000-39874400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:39873200-39873600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:39873200-39873600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr7:39873200-39873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:39873200-39873600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:39873200-39873600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr7:39873200-39873600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr7:39873200-39873600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr7:39873200-39873600	Enhancers	Placenta	Placenta
49	chr7:39873200-39873800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr7:39873200-39874000	Bivalent Enhancer	Stomach Mucosa	stomach

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