Variant report

Variant	rs543640366
Chromosome Location	chr4:8507931-8507932
allele	A/G
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	MAX	chr4:8507872-8508585	H1-hESC	embryonic stem cell:	n/a	chr4:8508449-8508458 chr4:8507956-8507966 chr4:8507958-8507968 chr4:8507957-8507968 chr4:8507960-8507976 chr4:8507958-8507967 chr4:8507959-8507966
2	CTCF	chr4:8507880-8508030	AG09319	gingival:	n/a	n/a
3	POLR2A	chr4:8507701-8508402	K562	blood:	n/a	n/a
4	RAD21	chr4:8507904-8508347	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:8507900-8508050	AG04449	skin:	n/a	n/a
6	CTCF	chr4:8507925-8508025	K562	blood:	n/a	n/a
7	RAD21	chr4:8507869-8508217	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:8507900-8508050	AG10803	skin:	n/a	n/a
9	MAX	chr4:8507926-8508334	H1-hESC	embryonic stem cell:	n/a	chr4:8507956-8507966 chr4:8507958-8507968 chr4:8507957-8507968 chr4:8507960-8507976 chr4:8507958-8507967 chr4:8507959-8507966
10	MAX	chr4:8507898-8508019	NB4	blood:	n/a	chr4:8507956-8507966 chr4:8507958-8507968 chr4:8507957-8507968 chr4:8507960-8507976 chr4:8507958-8507967 chr4:8507959-8507966
11	RAD21	chr4:8507766-8508439	H1-hESC	embryonic stem cell:	n/a	chr4:8508416-8508430
12	CTCF	chr4:8507920-8508070	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8498123..8500167-chr4:8506357..8507950,2	MCF-7	breast:
2	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:
3	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:
4	chr4:8507896..8508408-chr4:8595816..8596778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3327752	chr4:8507302-8509800	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8501800-8510600	Enhancers	Ovary	ovary
2	chr4:8502800-8512800	Enhancers	Placenta	Placenta
3	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
4	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
5	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:8504200-8509400	Enhancers	Right Atrium	heart
7	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:8504600-8510800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:8505000-8508000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:8505200-8508000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:8505400-8509000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:8505800-8509600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:8505800-8509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:8506000-8509000	Enhancers	Spleen	Spleen
15	chr4:8506200-8508200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:8506200-8509600	Enhancers	HSMMtube	muscle
17	chr4:8506400-8508200	Weak transcription	Lung	lung
18	chr4:8506400-8509200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:8506600-8508200	Weak transcription	Pancreas	Pancrea
20	chr4:8506600-8508600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:8506800-8508200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8507000-8509200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:8507000-8509800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:8507200-8509400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:8507200-8509400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8507200-8512000	Weak transcription	Gastric	stomach
27	chr4:8507400-8508200	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:8507400-8509200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:8507400-8509400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:8507400-8509400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:8507400-8509400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:8507600-8508200	Enhancers	Fetal Kidney	kidney
33	chr4:8507600-8508800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:8507600-8508800	Enhancers	Fetal Brain Male	brain
35	chr4:8507600-8509000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:8507600-8509400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:8507600-8509400	Enhancers	Fetal Lung	lung
38	chr4:8507600-8509600	Enhancers	Colon Smooth Muscle	Colon
39	chr4:8507800-8508000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:8507800-8508000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr4:8507800-8508000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
42	chr4:8507800-8508000	Bivalent Enhancer	NHLF	lung
43	chr4:8507800-8508000	Enhancers	Osteobl	bone
44	chr4:8507800-8508800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:8507800-8508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:8507800-8508800	Enhancers	Fetal Stomach	stomach
47	chr4:8507800-8509000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:8507800-8509000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:8507800-8509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:8507800-8509200	Enhancers	Aorta	Aorta

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