Variant report

Variant	rs567205907
Chromosome Location	chr1:220701199-220701200
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	TAF1	chr1:220701159-220702829	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:220701090-220701494	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr1:220700868-220701690	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr1:220700973-220701458	Hela-S3	cervix:	n/a	n/a
5	KAP1	chr1:220700647-220701710	HEK293	kidney:	n/a	n/a
6	REST	chr1:220700828-220703377	H1-neurons	neurons:	n/a	chr1:220702035-220702048 chr1:220701723-220701730 chr1:220702290-220702303 chr1:220701544-220701557 chr1:220701528-220701541
7	CEBPB	chr1:220700901-220701448	Hela-S3	cervix:	n/a	chr1:220700960-220700971
8	POLR2A	chr1:220700590-220701199	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXA1	chr1:220701189-220701595	T-47D	breast:	n/a	chr1:220701339-220701351
10	CHD1	chr1:220701117-220701273	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
12	HA-E2F1	chr1:220701044-220702002	MCF-7	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
13	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr1:220701186-220701494	Hela-S3	cervix:	n/a	n/a
15	MAX	chr1:220700397-220701961	HCT-116	colon:	n/a	n/a
16	POLR2A	chr1:220701186-220703057	H1-neurons	neurons:	n/a	n/a
17	TBP	chr1:220701194-220702873	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:220701156-220702136	HCT-116	colon:	n/a	n/a
19	SIN3A	chr1:220700587-220702907	H1-hESC	embryonic stem cell:	n/a	chr1:220701533-220701544 chr1:220702053-220702066 chr1:220700821-220700832
20	FOXA1	chr1:220701141-220701446	T-47D	breast:	n/a	chr1:220701339-220701351
21	ZNF263	chr1:220700316-220703260	HEK293-T-REx	kidney:	n/a	chr1:220702654-220702663 chr1:220701061-220701070
22	MAZ	chr1:220701147-220702063	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:220700709-220702012	Hela-S3	cervix:	n/a	chr1:220701059-220701069
24	POLR2A	chr1:220701151-220702874	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF7L2	chr1:220701126-220701708	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220701157..220702134-chr16:18812580..18813304,2	Hela-S3	cervix:

Variant related genes	Relation type
MARK1	TF binding region
ENSG00000260342	Chromatin interaction
ENSG00000170540	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350899	chr1:220700629-220702677	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220700200-220702000	Active TSS	Brain Hippocampus Middle	brain
2	chr1:220700200-220703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:220700200-220704600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:220700400-220701200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:220700400-220701200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220700400-220701200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:220700400-220701400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:220700400-220701600	Active TSS	Right Atrium	heart
9	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
11	chr1:220700400-220702800	Active TSS	NHEK	skin
12	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
14	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
15	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
17	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
18	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:220700600-220701200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr1:220700600-220701200	Flanking Active TSS	Placenta	Placenta
27	chr1:220700600-220701200	Enhancers	Gastric	stomach
28	chr1:220700600-220701200	Flanking Active TSS	Hela-S3	cervix
29	chr1:220700600-220701200	Flanking Active TSS	HMEC	breast
30	chr1:220700600-220701400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
31	chr1:220700600-220701400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:220700600-220701800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr1:220700600-220701800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr1:220700600-220701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:220700600-220702000	Active TSS	Brain Germinal Matrix	brain
36	chr1:220700600-220702800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:220700600-220702800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:220700600-220702800	Bivalent/Poised TSS	HSMM	muscle
39	chr1:220700600-220702800	Bivalent/Poised TSS	HSMMtube	muscle
40	chr1:220700600-220703000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:220700600-220703000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:220700600-220703000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:220700600-220703000	Active TSS	Psoas Muscle	Psoas
44	chr1:220700600-220703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:220700600-220703400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:220700600-220703400	Active TSS	Aorta	Aorta
47	chr1:220700600-220703600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:220700600-220703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:220700600-220703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220700800-220701200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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