Variant report

Variant	rs531347771
Chromosome Location	chr7:39872816-39872817
allele	-/GGC
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	chr7:39872795-39872891	A549	lung:	n/a	n/a
2	POLR2A	chr7:39872645-39873145	Gliobla	brain:	n/a	n/a
3	CTCF	chr7:39872789-39873259	MCF-7	breast:	n/a	n/a
4	HA-E2F1	chr7:39872552-39873450	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:39872801-39872890	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:39872735-39872918	MCF-7	breast:	n/a	n/a
7	RAD21	chr7:39872761-39873273	H1-hESC	embryonic stem cell:	n/a	chr7:39872843-39872855
8	POLR2A	chr7:39872756-39872981	A549	lung:	n/a	n/a
9	MYC	chr7:39872763-39873220	MCF-7	breast:	n/a	n/a
10	TEAD4	chr7:39872798-39873191	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:39872660-39873176	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:39872779-39872899	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:39872719-39872883	K562	blood:	n/a	n/a
14	POLR2A	chr7:39872797-39872932	A549	lung:	n/a	n/a
15	MAZ	chr7:39872742-39873451	IMR90	lung:	n/a	n/a
16	POLR2A	chr7:39872790-39872888	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:39872769-39873015	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:39872790-39872920	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:39872562-39873013	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr7:39872808-39872927	A549	lung:	n/a	n/a
21	MXI1	chr7:39872720-39873544	SK-N-SH	brain:	n/a	n/a
22	TCF3	chr7:39872804-39873092	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:39872712-39872874	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000233225	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39872400-39873000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr7:39872400-39873000	Bivalent Enhancer	HUVEC	blood vessel
3	chr7:39872400-39873200	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:39872400-39873200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:39872400-39873400	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr7:39872400-39873400	Active TSS	HMEC	breast
7	chr7:39872400-39873600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:39872400-39873800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:39872400-39874200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:39872400-39874400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:39872400-39874400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:39872600-39873000	Enhancers	Adipose Nuclei	Adipose
13	chr7:39872600-39873200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:39872600-39873200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
15	chr7:39872600-39873200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:39872600-39873200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:39872600-39873200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:39872600-39873200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr7:39872600-39873200	Active TSS	Fetal Muscle Leg	muscle
20	chr7:39872600-39873200	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr7:39872600-39873400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:39872600-39873400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:39872600-39873400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr7:39872600-39873400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:39872600-39873600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:39872600-39873600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:39872600-39873600	Active TSS	Brain Hippocampus Middle	brain
28	chr7:39872600-39873800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:39872600-39874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:39872600-39874200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:39872600-39874400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:39872600-39875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:39872800-39873000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:39872800-39873000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:39872800-39873000	Active TSS	Primary hematopoietic stem cells	blood
36	chr7:39872800-39873000	Weak transcription	NHDF-Ad	bronchial
37	chr7:39872800-39873200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:39872800-39873200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:39872800-39873200	Active TSS	Aorta	Aorta
40	chr7:39872800-39873200	Active TSS	Gastric	stomach
41	chr7:39872800-39873200	Active TSS	Lung	lung
42	chr7:39872800-39873200	Active TSS	Ovary	ovary
43	chr7:39872800-39873200	Bivalent/Poised TSS	Thymus	Thymus
44	chr7:39872800-39873200	Active TSS	HepG2	liver
45	chr7:39872800-39873400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:39872800-39873400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:39872800-39873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:39872800-39873400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:39872800-39873400	Active TSS	Colonic Mucosa	Colon
50	chr7:39872800-39873400	Active TSS	Esophagus	oesophagus

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