Variant report

Variant	rs559560112
Chromosome Location	chr1:84464740-84464741
allele	C/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	POLR2A	chr1:84464534-84465486	PANC-1	pancreas:	n/a	n/a
2	SP1	chr1:84464633-84465335	A549	lung:	n/a	chr1:84465067-84465076
3	HMGN3	chr1:84464408-84465245	K562	blood:	n/a	n/a
4	REST	chr1:84463776-84465932	H1-neurons	neurons:	n/a	chr1:84464459-84464479 chr1:84465417-84465426
5	EP300	chr1:84464575-84465324	H1-hESC	embryonic stem cell:	n/a	chr1:84464866-84464882
6	MAX	chr1:84464006-84465328	H1-hESC	embryonic stem cell:	n/a	chr1:84464108-84464117 chr1:84464872-84464882
7	POLR2A	chr1:84464549-84464997	A549	lung:	n/a	n/a
8	MAX	chr1:84464005-84465332	K562	blood:	n/a	chr1:84464108-84464117 chr1:84464872-84464882
9	GATA3	chr1:84464602-84465410	A549	lung:	n/a	n/a
10	TAF1	chr1:84464468-84465274	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:84464542-84465321	ECC-1	luminal epithelium:	n/a	n/a
12	JUND	chr1:84464609-84465265	A549	lung:	n/a	chr1:84465068-84465077
13	E2F6	chr1:84463858-84465410	H1-hESC	embryonic stem cell:	n/a	chr1:84464315-84464324
14	E2F6	chr1:84464006-84465332	K562	blood:	n/a	chr1:84464315-84464324
15	POLR2A	chr1:84464682-84465087	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:84464307-84465491	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr1:84464182-84465296	H1-hESC	embryonic stem cell:	n/a	chr1:84465148-84465157 chr1:84464382-84464391 chr1:84464583-84464602
18	SIX5	chr1:84464732-84465243	A549	lung:	n/a	n/a
19	CCNT2	chr1:84464659-84465225	K562	blood:	n/a	n/a
20	BHLHE40	chr1:84464677-84465244	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:84464637-84464900	A549	lung:	n/a	n/a
22	JUND	chr1:84464731-84465241	H1-hESC	embryonic stem cell:	n/a	chr1:84465068-84465077
23	BHLHE40	chr1:84464733-84465164	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:84464640-84465419	HCT-116	colon:	n/a	n/a
25	MYC	chr1:84464702-84465381	K562	blood:	n/a	chr1:84464872-84464882
26	RUNX3	chr1:84464639-84465249	GM12878	blood:	n/a	n/a
27	TAF1	chr1:84464533-84465032	SK-N-SH	brain:	n/a	n/a
28	MAX	chr1:84464530-84465379	A549	lung:	n/a	chr1:84464872-84464882
29	MYC	chr1:84464641-84464963	MCF-7	breast:	n/a	chr1:84464872-84464882
30	POLR2A	chr1:84464624-84465304	H1-hESC	embryonic stem cell:	n/a	n/a
31	SRF	chr1:84464721-84464912	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:84464552-84465478	PANC-1	pancreas:	n/a	n/a
33	KAP1	chr1:84464715-84465322	HEK293	kidney:	n/a	n/a
34	SIN3AK20	chr1:84464628-84464867	K562	blood:	n/a	n/a
35	E2F4	chr1:84464499-84465305	K562	blood:	n/a	n/a
36	ZNF263	chr1:84464099-84465336	HEK293-T-REx	kidney:	n/a	n/a
37	GTF2F1	chr1:84464679-84464814	K562	blood:	n/a	n/a
38	TCF12	chr1:84464527-84465394	ECC-1	luminal epithelium:	n/a	n/a
39	MYC	chr1:84464734-84465278	K562	blood:	n/a	chr1:84464872-84464882
40	REST	chr1:84464656-84464933	SK-N-SH	brain:	n/a	n/a
41	SIX5	chr1:84464720-84465152	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr1:84463950-84465432	H1-hESC	embryonic stem cell:	n/a	chr1:84464108-84464117 chr1:84464872-84464882
43	MAX	chr1:84464491-84465360	HepG2	liver:	n/a	chr1:84464872-84464882
44	JUND	chr1:84463790-84465797	SK-N-SH	brain:	n/a	chr1:84465068-84465077 chr1:84464109-84464117 chr1:84464107-84464119 chr1:84464316-84464325 chr1:84464107-84464114
45	RAD21	chr1:84464631-84464959	SK-N-SH_RA	brain:	n/a	chr1:84464865-84464879
46	BHLHE40	chr1:84464367-84465447	K562	blood:	n/a	n/a
47	CHD1	chr1:84464729-84465131	GM12878	blood:	n/a	n/a
48	MAX	chr1:84464677-84465022	K562	blood:	n/a	chr1:84464872-84464882
49	UBTF	chr1:84464239-84465329	K562	blood:	n/a	n/a
50	POLR2A	chr1:84464346-84465395	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84463410..84466364-chr1:84542152..84546505,5	K562	blood:

Variant related genes	Relation type
TTLL7	TF binding region
ENSG00000142875	Chromatin interaction
ENSG00000271576	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	nsv823353	chr1:84464183-84465098	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84460000-84465600	Active TSS	Brain Anterior Caudate	brain
2	chr1:84461200-84465600	Active TSS	Brain Cingulate Gyrus	brain
3	chr1:84461800-84465600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:84461800-84465800	Active TSS	Aorta	Aorta
5	chr1:84461800-84465800	Active TSS	Brain Substantia Nigra	brain
6	chr1:84462000-84465600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:84462000-84466000	Active TSS	Brain Hippocampus Middle	brain
8	chr1:84462000-84467000	Active TSS	Brain Angular Gyrus	brain
9	chr1:84463000-84465800	Active TSS	NHLF	lung
10	chr1:84463400-84465600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:84463600-84466400	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:84463800-84465000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:84463800-84465400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:84463800-84465400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:84463800-84465400	Active TSS	NHEK	skin
16	chr1:84463800-84465600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:84463800-84465600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr1:84463800-84465600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:84463800-84465600	Active TSS	Right Atrium	heart
20	chr1:84463800-84465600	Active TSS	Right Ventricle	heart
21	chr1:84463800-84465800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:84463800-84465800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:84464000-84464800	Bivalent/Poised TSS	Stomach Mucosa	stomach
24	chr1:84464000-84465200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:84464000-84465200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:84464000-84465200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr1:84464000-84465200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr1:84464000-84465200	Active TSS	Gastric	stomach
29	chr1:84464000-84465200	Active TSS	Lung	lung
30	chr1:84464000-84465200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
31	chr1:84464000-84465200	Active TSS	NH-A	brain
32	chr1:84464000-84465200	Active TSS	Osteobl	bone
33	chr1:84464000-84465400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:84464000-84465400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:84464000-84465400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:84464000-84465400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:84464000-84465400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:84464000-84465400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:84464000-84465400	Active TSS	Fetal Brain Female	brain
40	chr1:84464000-84465400	Active TSS	Left Ventricle	heart
41	chr1:84464000-84465400	Active TSS	Psoas Muscle	Psoas
42	chr1:84464000-84465400	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:84464000-84465400	Active TSS	A549	lung
44	chr1:84464000-84465400	Active TSS	HSMMtube	muscle
45	chr1:84464000-84465600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:84464000-84465600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:84464000-84465600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:84464000-84465600	Active TSS	Hela-S3	cervix
49	chr1:84464000-84465600	Active TSS	K562	blood
50	chr1:84464200-84465000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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