Variant report

Variant	rs565905123
Chromosome Location	chr1:223537712-223537713
allele	G/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	chr1:223537180-223538300	MCF-7	breast:	n/a	chr1:223538169-223538176 chr1:223537564-223537574 chr1:223538169-223538176 chr1:223537543-223537552 chr1:223538169-223538176
2	MAZ	chr1:223537317-223537830	IMR90	lung:	n/a	chr1:223537542-223537552
3	E2F6	chr1:223537699-223538417	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
4	MAX	chr1:223537700-223538052	K562	blood:	n/a	n/a
5	E2F6	chr1:223537658-223538020	A549	lung:	n/a	n/a
6	CREB1	chr1:223537234-223537736	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:223537645-223538736	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr1:223537289-223538072	MCF-7	breast:	n/a	chr1:223537542-223537552
9	USF1	chr1:223537681-223537991	H1-hESC	embryonic stem cell:	n/a	chr1:223537859-223537875
10	REST	chr1:223536034-223537810	H1-neurons	neurons:	n/a	chr1:223537537-223537547 chr1:223536946-223536959 chr1:223536546-223536559 chr1:223537307-223537320
11	E2F6	chr1:223537700-223538243	K562	blood:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176
12	MAX	chr1:223537252-223538363	H1-hESC	embryonic stem cell:	n/a	chr1:223537542-223537552
13	E2F6	chr1:223537688-223537961	K562	blood:	n/a	n/a
14	MAX	chr1:223537702-223537969	ECC-1	luminal epithelium:	n/a	n/a
15	MAZ	chr1:223537217-223537751	GM12878	blood:	n/a	chr1:223537542-223537552
16	EGR1	chr1:223537372-223537773	K562	blood:	n/a	chr1:223537544-223537557
17	MAX	chr1:223537676-223538019	A549	lung:	n/a	n/a
18	MAZ	chr1:223537303-223537741	K562	blood:	n/a	chr1:223537542-223537552
19	CCNT2	chr1:223537418-223538160	K562	blood:	n/a	n/a
20	POLR2A	chr1:223536325-223537723	H1-neurons	neurons:	n/a	n/a
21	MAX	chr1:223537564-223538102	ECC-1	luminal epithelium:	n/a	n/a
22	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
ENSG00000187554	Chromatin interaction
ENSG00000251789	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535800-223538200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:223535800-223538800	Active TSS	Ovary	ovary
5	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
6	chr1:223536000-223538200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr1:223536000-223538400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
10	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:223536400-223538000	Active TSS	HSMMtube	muscle
17	chr1:223536400-223538200	Bivalent/Poised TSS	NHLF	lung
18	chr1:223536400-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:223536600-223537800	Active TSS	Psoas Muscle	Psoas
20	chr1:223536600-223538200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:223536600-223538200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:223536600-223538200	Active TSS	Brain Substantia Nigra	brain
23	chr1:223536600-223538200	Bivalent Enhancer	Spleen	Spleen
24	chr1:223536600-223538400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:223536600-223538400	Active TSS	Brain Cingulate Gyrus	brain
26	chr1:223536600-223538400	Active TSS	Fetal Heart	heart
27	chr1:223536600-223538600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:223536600-223538600	Active TSS	Gastric	stomach
29	chr1:223536800-223537800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:223536800-223538200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:223536800-223538200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:223536800-223538200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:223536800-223538200	Active TSS	Aorta	Aorta
34	chr1:223536800-223538200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr1:223536800-223538200	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr1:223536800-223538200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr1:223536800-223538200	Active TSS	Left Ventricle	heart
38	chr1:223536800-223538200	Bivalent/Poised TSS	HepG2	liver
39	chr1:223536800-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:223536800-223538600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:223536800-223538600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:223536800-223538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:223536800-223538600	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:223536800-223538800	Active TSS	Brain Angular Gyrus	brain
45	chr1:223537000-223538000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:223537000-223538000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:223537000-223538200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:223537000-223538200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:223537000-223538200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:223537000-223538200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood

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