Variant report

Variant	rs576085364
Chromosome Location	chr1:223538447-223538448
allele	C/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	ZNF143	chr1:223538173-223538727	H1-hESC	embryonic stem cell:	n/a	chr1:223538380-223538398 chr1:223538386-223538404
2	RAD21	chr1:223538342-223538753	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr1:223538422-223538845	K562	blood:	n/a	chr1:223538648-223538657
4	TEAD4	chr1:223538061-223538918	H1-hESC	embryonic stem cell:	n/a	chr1:223538648-223538657
5	MAX	chr1:223537645-223538736	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr1:223538166-223538774	H1-hESC	embryonic stem cell:	n/a	chr1:223538648-223538657
7	CTBP2	chr1:223537772-223538667	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr1:223537894-223538791	H1-hESC	embryonic stem cell:	n/a	chr1:223537953-223537964
9	RAD21	chr1:223538358-223538801	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr1:223537703-223538550	H1-hESC	embryonic stem cell:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538386-223538395 chr1:223538386-223538398 chr1:223538394-223538403

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
2	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:

Variant related genes	Relation type
SUSD4	TF binding region
ENSG00000251789	Chromatin interaction
ENSG00000187554	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	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv826809	chr1:223536032-223538665	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438398	chr1:223536354-223539202	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3412152	chr1:223536929-223539252	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:223535800-223538800	Active TSS	Ovary	ovary
4	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
5	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
7	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:223536400-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:223536600-223538600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:223536600-223538600	Active TSS	Gastric	stomach
16	chr1:223536800-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:223536800-223538600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:223536800-223538600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:223536800-223538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:223536800-223538600	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:223536800-223538800	Active TSS	Brain Angular Gyrus	brain
22	chr1:223537000-223538600	Active TSS	Pancreas	Pancrea
23	chr1:223537000-223538600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:223537200-223538600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:223537200-223538600	Active TSS	Right Atrium	heart
26	chr1:223537200-223538600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:223537200-223538600	Bivalent/Poised TSS	Thymus	Thymus
28	chr1:223537400-223538600	Bivalent/Poised TSS	NHEK	skin
29	chr1:223537800-223538600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:223537800-223538600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:223537800-223538600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:223537800-223538800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:223538000-223538600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr1:223538000-223538600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:223538000-223538600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr1:223538000-223538600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr1:223538000-223538600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr1:223538000-223538800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:223538000-223538800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr1:223538200-223538600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr1:223538200-223538600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:223538200-223538600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr1:223538200-223538600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:223538200-223538600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:223538200-223538600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:223538200-223538600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:223538200-223538600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr1:223538200-223538600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:223538200-223538600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr1:223538200-223538600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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