Variant report

Variant	rs545253227
Chromosome Location	chr1:223537260-223537261
allele	A/C
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	chr1:223536340-223537693	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:223536749-223537635	MCF-7	breast:	n/a	n/a
3	REST	chr1:223536682-223537532	H1-neurons	neurons:	n/a	chr1:223536946-223536959 chr1:223537307-223537320
4	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
5	BACH1	chr1:223537063-223537589	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr1:223536947-223537533	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr1:223537101-223537580	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr1:223537234-223537736	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr1:223537065-223537616	H1-hESC	embryonic stem cell:	n/a	chr1:223537088-223537096
10	POLR2A	chr1:223536951-223537532	MCF-7	breast:	n/a	n/a
11	CREB1	chr1:223537176-223537594	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr1:223536848-223537634	H1-hESC	embryonic stem cell:	n/a	chr1:223537542-223537552
13	REST	chr1:223536034-223537810	H1-neurons	neurons:	n/a	chr1:223537537-223537547 chr1:223536946-223536959 chr1:223536546-223536559 chr1:223537307-223537320
14	MAX	chr1:223537252-223538363	H1-hESC	embryonic stem cell:	n/a	chr1:223537542-223537552
15	ZBTB7A	chr1:223537170-223537655	ECC-1	luminal epithelium:	n/a	n/a
16	MAZ	chr1:223537217-223537751	GM12878	blood:	n/a	chr1:223537542-223537552
17	RAD21	chr1:223537218-223537585	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF384	chr1:223537139-223537535	K562	blood:	n/a	n/a
19	ZNF263	chr1:223537067-223537635	HEK293-T-REx	kidney:	n/a	chr1:223537423-223537444
20	RAD21	chr1:223537215-223537521	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:223536325-223537723	H1-neurons	neurons:	n/a	n/a
22	ZNF143	chr1:223537084-223537598	H1-hESC	embryonic stem cell:	n/a	chr1:223537542-223537552

No.	Distal block	Cell Line	Cell type
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:
2	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
3	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:

Variant related genes	Relation type
SUSD4	TF binding region
ENSG00000178395	Chromatin interaction
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:122 , 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	chr1:223536200-223537400	Flanking Active TSS	HSMM	muscle
11	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr1:223536400-223537400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr1:223536400-223537400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr1:223536400-223537400	Flanking Active TSS	Dnd41	blood
26	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	NH-A	brain
27	chr1:223536400-223537600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr1:223536400-223537600	Active TSS	Fetal Kidney	kidney
35	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr1:223536400-223538000	Active TSS	HSMMtube	muscle
37	chr1:223536400-223538200	Bivalent/Poised TSS	NHLF	lung
38	chr1:223536400-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:223536600-223537400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:223536600-223537400	Flanking Active TSS	Liver	Liver
41	chr1:223536600-223537400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr1:223536600-223537400	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr1:223536600-223537600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:223536600-223537600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr1:223536600-223537800	Active TSS	Psoas Muscle	Psoas
46	chr1:223536600-223538200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:223536600-223538200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:223536600-223538200	Active TSS	Brain Substantia Nigra	brain
49	chr1:223536600-223538200	Bivalent Enhancer	Spleen	Spleen
50	chr1:223536600-223538400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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