Variant report

Variant	rs185522269
Chromosome Location	chr1:214776097-214776098
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	HDAC2	chr1:214776077-214776523	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr1:214775984-214776785	A549	lung:	n/a	n/a
3	SIN3AK20	chr1:214775919-214777017	HCT-116	colon:	n/a	n/a
4	POLR2A	chr1:214775932-214777552	PANC-1	pancreas:	n/a	n/a
5	CEBPB	chr1:214775952-214776555	K562	blood:	n/a	n/a
6	ATF1	chr1:214775849-214776633	K562	blood:	n/a	n/a
7	USF1	chr1:214776041-214776534	K562	blood:	n/a	n/a
8	POLR2A	chr1:214776003-214776778	U87	brain:	n/a	n/a
9	MXI1	chr1:214775847-214776944	K562	blood:	n/a	n/a
10	KAP1	chr1:214776018-214776631	HEK293	kidney:	n/a	n/a
11	TBP	chr1:214776015-214777465	K562	blood:	n/a	n/a
12	POLR2A	chr1:214776022-214777605	K562	blood:	n/a	n/a
13	SRF	chr1:214776064-214776711	ECC-1	luminal epithelium:	n/a	n/a
14	JUND	chr1:214776028-214777022	K562	blood:	n/a	chr1:214776716-214776725 chr1:214776443-214776452
15	NR2F2	chr1:214775886-214777467	K562	blood:	n/a	n/a
16	KAP1	chr1:214775741-214776345	K562	blood:	n/a	n/a
17	TCF12	chr1:214776074-214776550	A549	lung:	n/a	n/a
18	FOXM1	chr1:214776072-214777128	SK-N-SH	brain:	n/a	n/a
19	MYC	chr1:214776086-214776923	Hela-S3	cervix:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
20	MYC	chr1:214775873-214777626	K562	blood:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
21	E2F4	chr1:214776019-214776903	GM12878	blood:	n/a	chr1:214776468-214776477 chr1:214776699-214776708 chr1:214776441-214776450 chr1:214776713-214776722
22	USF1	chr1:214775932-214776927	HCT-116	colon:	n/a	n/a
23	CEBPD	chr1:214775926-214776784	K562	blood:	n/a	n/a
24	BCL3	chr1:214776022-214776582	A549	lung:	n/a	n/a
25	PML	chr1:214775941-214776728	K562	blood:	n/a	n/a
26	E2F6	chr1:214775861-214777026	K562	blood:	n/a	chr1:214776468-214776477 chr1:214776699-214776708 chr1:214776441-214776450 chr1:214776713-214776722
27	USF2	chr1:214775970-214776553	GM12878	blood:	n/a	chr1:214776342-214776353
28	POLR2A	chr1:214776046-214777099	K562	blood:	n/a	n/a
29	HCFC1	chr1:214775909-214777790	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:214776078-214776991	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr1:214776059-214777027	GM18951	blood:	n/a	n/a
32	POLR2A	chr1:214775903-214778224	HepG2	liver:	n/a	n/a
33	TEAD4	chr1:214775995-214776639	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr1:214775653-214777040	K562	blood:	n/a	n/a
35	MYC	chr1:214776070-214776774	K562	blood:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
36	TBL1XR1	chr1:214776039-214776649	GM12878	blood:	n/a	n/a
37	SP1	chr1:214776004-214776842	H1-hESC	embryonic stem cell:	n/a	chr1:214776440-214776461 chr1:214776501-214776522 chr1:214776813-214776825 chr1:214776759-214776768
38	CBX3	chr1:214776002-214776567	K562	blood:	n/a	n/a
39	MAX	chr1:214775935-214777079	ECC-1	luminal epithelium:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
40	TAF1	chr1:214776067-214776912	A549	lung:	n/a	n/a
41	EP300	chr1:214776043-214776819	A549	lung:	n/a	chr1:214776717-214776726 chr1:214776690-214776706 chr1:214776373-214776387
42	POLR2A	chr1:214776031-214777063	K562	blood:	n/a	n/a
43	IRF1	chr1:214775975-214776952	K562	blood:	n/a	n/a
44	EP300	chr1:214775982-214776881	ECC-1	luminal epithelium:	n/a	chr1:214776717-214776726 chr1:214776690-214776706 chr1:214776373-214776387
45	POLR2A	chr1:214776056-214776927	GM19193	blood:	n/a	n/a
46	MAX	chr1:214776029-214777041	K562	blood:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
47	FOXM1	chr1:214775904-214776963	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr1:214775985-214777038	MCF-7	breast:	n/a	n/a
49	E2F6	chr1:214776079-214776796	H1-hESC	embryonic stem cell:	n/a	chr1:214776468-214776477 chr1:214776699-214776708 chr1:214776441-214776450 chr1:214776713-214776722
50	TEAD4	chr1:214775776-214776736	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
2	chr1:214723767..214726550-chr1:214774637..214776348,2	MCF-7	breast:
3	chr1:214773497..214776791-chr1:214785798..214789572,5	K562	blood:
4	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region
ENSG00000224584	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000250536	Chromatin interaction
ENSG00000143499	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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214775400-214776200	Flanking Active TSS	K562	blood
2	chr1:214775600-214776200	Flanking Active TSS	NHEK	skin
3	chr1:214775600-214776400	Flanking Active TSS	Dnd41	blood
4	chr1:214775600-214776800	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:214775600-214777000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:214775600-214777200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:214775600-214777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214775600-214777800	Active TSS	A549	lung
9	chr1:214775800-214776200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:214775800-214776200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:214775800-214776200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:214775800-214776200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:214775800-214776200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:214775800-214776200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:214775800-214776200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:214775800-214776200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:214775800-214776200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:214775800-214776200	Flanking Active TSS	Fetal Kidney	kidney
19	chr1:214775800-214776200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:214775800-214776200	Flanking Active TSS	HMEC	breast
21	chr1:214775800-214776200	Flanking Active TSS	HUVEC	blood vessel
22	chr1:214775800-214776200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:214775800-214776400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:214775800-214776400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:214775800-214776400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:214775800-214776400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:214775800-214776400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:214775800-214776600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:214775800-214776800	Active TSS	Primary B cells from cord blood	blood
30	chr1:214775800-214776800	Active TSS	Primary T cells from cord blood	blood
31	chr1:214775800-214776800	Active TSS	Primary T cells fromperipheralblood	blood
32	chr1:214775800-214776800	Active TSS	Brain Angular Gyrus	brain
33	chr1:214775800-214776800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:214775800-214776800	Active TSS	Brain Substantia Nigra	brain
35	chr1:214775800-214776800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:214775800-214776800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:214775800-214777000	Active TSS	Brain Germinal Matrix	brain
38	chr1:214775800-214777000	Active TSS	Colon Smooth Muscle	Colon
39	chr1:214775800-214777000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:214775800-214777000	Active TSS	Fetal Muscle Leg	muscle
41	chr1:214775800-214777000	Active TSS	Fetal Stomach	stomach
42	chr1:214775800-214777000	Active TSS	NHLF	lung
43	chr1:214775800-214777000	Active TSS	Osteobl	bone
44	chr1:214775800-214777200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:214775800-214777200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:214775800-214777200	Active TSS	Brain Anterior Caudate	brain
47	chr1:214775800-214777200	Active TSS	Brain Hippocampus Middle	brain
48	chr1:214775800-214777200	Active TSS	Fetal Brain Female	brain
49	chr1:214775800-214777200	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:214775800-214777200	Active TSS	Ovary	ovary

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