Variant report

Variant	rs2244588
Chromosome Location	chr1:93308798-93308799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:93308092-93308854	K562	blood:	n/a	n/a
2	POLR2A	chr1:93307706-93309850	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:93308547-93308874	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:93308112-93310096	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:93305800-93310164	HepG2	liver:	n/a	n/a
6	PML	chr1:93308260-93309474	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:93308047-93309924	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:93308521-93308888	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:93307950-93310295	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:93307990-93309902	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:93304734-93310132	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:93307641-93309767	K562	blood:	n/a	n/a
13	POLR2A	chr1:93307662-93310170	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:93308320-93309952	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:93307514-93310141	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:93308120-93308911	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:93307661-93310196	HL-60	blood:	n/a	n/a
18	POLR2A	chr1:93307676-93309986	HepG2	liver:	n/a	n/a
19	STAT5A	chr1:93308575-93308924	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:93307499-93309976	GM18505	blood:	n/a	n/a
21	POLR2A	chr1:93308619-93308879	HUVEC	blood vessel:	n/a	n/a
22	CHD2	chr1:93308751-93308854	K562	blood:	n/a	n/a
23	POLR2A	chr1:93308078-93308935	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:93307645-93309882	K562	blood:	n/a	n/a
25	NFATC1	chr1:93307987-93309633	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:93308149-93309517	HEK293	kidney:	n/a	n/a
27	POLR2A	chr1:93308090-93308906	K562	blood:	n/a	n/a
28	POLR2A	chr1:93308229-93309954	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr1:93308009-93309881	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:93308080-93309820	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:93307509-93309839	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr1:93308405-93308847	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:93307540-93309896	K562	blood:	n/a	n/a
34	POLR2A	chr1:93307668-93309908	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:93308533-93308845	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:93307524-93309814	K562	blood:	n/a	n/a
37	POLR2A	chr1:93308098-93309787	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:93306161-93310316	Hela-S3	cervix:	n/a	n/a
39	NRF1	chr1:93308647-93309316	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:93308308-93308844	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr1:93307016-93309802	K562	blood:	n/a	n/a
42	POLR2A	chr1:93307691-93309741	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:93307657-93309809	Hela-S3	cervix:	n/a	n/a
44	PML	chr1:93307959-93309185	K562	blood:	n/a	n/a
45	POLR2A	chr1:93307248-93310350	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr1:93307582-93310204	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:93308371-93309946	U87	brain:	n/a	n/a
48	POLR2A	chr1:93308016-93310103	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:93307617-93308960	K562	blood:	n/a	n/a
50	POLR2A	chr1:93308365-93309946	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93211573..93213718-chr1:93306717..93309071,2	K562	blood:
2	chr1:93308545..93311072-chr1:93527284..93530224,2	K562	blood:
3	chr1:93308160..93310524-chr1:93468907..93471489,2	K562	blood:
4	chr1:93251519..93253551-chr1:93306747..93308884,2	K562	blood:
5	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207022	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10735783	0.80[EUR][1000 genomes]
rs10735784	0.80[EUR][1000 genomes]
rs10782942	0.80[EUR][1000 genomes]
rs11164804	0.80[EUR][1000 genomes]
rs11164805	0.80[EUR][1000 genomes]
rs11164808	0.80[EUR][1000 genomes]
rs11164809	0.80[EUR][1000 genomes]
rs11164812	0.84[EUR][1000 genomes]
rs11164813	0.84[EUR][1000 genomes]
rs1182632	0.87[EUR][1000 genomes]
rs1182633	0.87[EUR][1000 genomes]
rs1182636	0.87[EUR][1000 genomes]
rs1182639	0.87[EUR][1000 genomes]
rs1182640	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1337108	0.80[EUR][1000 genomes]
rs1337109	0.80[EUR][1000 genomes]
rs1411706	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1610319	0.83[EUR][1000 genomes]
rs1932967	0.80[EUR][1000 genomes]
rs2008797	0.87[EUR][1000 genomes]
rs2025101	0.80[EUR][1000 genomes]
rs2107520	0.80[EUR][1000 genomes]
rs2107521	0.80[EUR][1000 genomes]
rs2158446	0.80[EUR][1000 genomes]
rs2180977	0.80[EUR][1000 genomes]
rs2244496	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2298912	0.80[EUR][1000 genomes]
rs2391194	0.80[EUR][1000 genomes]
rs2391196	0.80[EUR][1000 genomes]
rs2774940	0.88[EUR][1000 genomes]
rs2774941	0.96[AMR][1000 genomes]
rs2774947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2811599	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2811602	0.90[EUR][1000 genomes]
rs35054144	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3790445	0.80[EUR][1000 genomes]
rs3790446	0.80[EUR][1000 genomes]
rs4264007	0.80[EUR][1000 genomes]
rs4525050	0.80[EUR][1000 genomes]
rs4638137	0.80[EUR][1000 genomes]
rs4847217	0.80[EUR][1000 genomes]
rs4847285	0.80[EUR][1000 genomes]
rs4847304	0.80[EUR][1000 genomes]
rs4847309	0.80[EUR][1000 genomes]
rs4847310	0.80[EUR][1000 genomes]
rs4847363	0.80[EUR][1000 genomes]
rs4847370	0.84[EUR][1000 genomes]
rs6604010	0.80[EUR][1000 genomes]
rs6604012	0.80[EUR][1000 genomes]
rs6604015	0.80[EUR][1000 genomes]
rs6604018	0.80[EUR][1000 genomes]
rs6604022	0.80[EUR][1000 genomes]
rs6660296	0.80[EUR][1000 genomes]
rs6661600	0.80[EUR][1000 genomes]
rs6665579	0.80[EUR][1000 genomes]
rs6676454	0.80[EUR][1000 genomes]
rs6685705	0.80[EUR][1000 genomes]
rs6693371	0.84[EUR][1000 genomes]
rs723909	0.80[EUR][1000 genomes]
rs72728629	0.87[EUR][1000 genomes]
rs7513815	0.80[EUR][1000 genomes]
rs7521345	0.80[EUR][1000 genomes]
rs7532731	0.87[EUR][1000 genomes]
rs7543327	0.80[EUR][1000 genomes]
rs7543964	0.84[EUR][1000 genomes]
rs7549844	0.80[EUR][1000 genomes]
rs7551880	0.84[EUR][1000 genomes]
rs7552085	0.80[EUR][1000 genomes]
rs7554868	0.80[EUR][1000 genomes]
rs757469	0.80[EUR][1000 genomes]
rs9439920	0.80[EUR][1000 genomes]
rs9439924	0.84[EUR][1000 genomes]
rs976208	0.80[EUR][1000 genomes]
rs976209	0.80[EUR][1000 genomes]
rs980940	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93299200-93310400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:93299400-93309200	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr1:93299600-93309000	Weak transcription	Esophagus	oesophagus
4	chr1:93299600-93309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:93299600-93310000	Strong transcription	Placenta	Placenta
6	chr1:93299600-93310400	Strong transcription	Fetal Thymus	thymus
7	chr1:93299800-93310600	Strong transcription	Fetal Intestine Large	intestine
8	chr1:93299800-93311600	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:93300000-93309800	Strong transcription	Thymus	Thymus
10	chr1:93300000-93310000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:93300000-93310000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:93300000-93310200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:93300200-93309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:93300200-93310000	Strong transcription	HSMMtube	muscle
15	chr1:93300200-93310200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:93300200-93310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:93300400-93310000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
19	chr1:93300600-93308800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr1:93300600-93309200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:93300600-93310000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:93300800-93309000	Weak transcription	Spleen	Spleen
23	chr1:93300800-93310000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:93300800-93310200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:93300800-93310200	Strong transcription	HSMM	muscle
26	chr1:93300800-93310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:93301000-93309600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:93301000-93309800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:93301000-93310000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:93301000-93310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:93301000-93310200	Strong transcription	Brain Germinal Matrix	brain
32	chr1:93301000-93318400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:93301400-93311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:93301600-93310600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:93302000-93310200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:93302000-93310400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:93302200-93310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:93302400-93310200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:93302600-93310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:93302600-93310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:93302600-93310200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:93303000-93317200	Weak transcription	Right Ventricle	heart
43	chr1:93303400-93310200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:93303600-93309800	Strong transcription	K562	blood
45	chr1:93303800-93309800	Strong transcription	A549	lung
46	chr1:93303800-93310000	Strong transcription	Brain Substantia Nigra	brain
47	chr1:93303800-93310000	Strong transcription	NH-A	brain
48	chr1:93303800-93310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:93303800-93310400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:93303800-93310400	Strong transcription	HMEC	breast

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