Variant report

Variant	rs41309165
Chromosome Location	chr1:78470634-78470635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:78468615-78470834	K562	blood:	n/a	chr1:78469262-78469276
2	TCF7L2	chr1:78469981-78470686	HEK293	kidney:	n/a	chr1:78470252-78470268
3	POLR2A	chr1:78469623-78470998	Hela-S3	cervix:	n/a	n/a
4	BCLAF1	chr1:78469639-78470760	GM12878	blood:	n/a	n/a
5	CREB1	chr1:78469885-78470814	HepG2	liver:	n/a	n/a
6	CUX1	chr1:78469667-78470884	GM12878	blood:	n/a	n/a
7	TAF1	chr1:78470409-78470653	H1-hESC	embryonic stem cell:	n/a	n/a
8	CUX1	chr1:78469723-78471430	K562	blood:	n/a	n/a
9	ATF2	chr1:78469908-78470689	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr1:78469704-78470713	HepG2	liver:	n/a	n/a
11	IRF4	chr1:78470228-78470700	GM12878	blood:	n/a	n/a
12	TEAD4	chr1:78469579-78471022	K562	blood:	n/a	n/a
13	ATF2	chr1:78469560-78471024	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:78469594-78470926	GM18951	blood:	n/a	n/a
15	SRF	chr1:78469691-78470967	HCT-116	colon:	n/a	n/a
16	CBX3	chr1:78469700-78470848	HCT-116	colon:	n/a	n/a
17	ZMIZ1	chr1:78469600-78470842	K562	blood:	n/a	n/a
18	HEY1	chr1:78469606-78470943	K562	blood:	n/a	n/a
19	TAF1	chr1:78470298-78470741	SK-N-SH	brain:	n/a	n/a
20	FOXM1	chr1:78469555-78470731	GM12878	blood:	n/a	n/a
21	MAX	chr1:78469553-78470923	HCT-116	colon:	n/a	n/a
22	POLR2A	chr1:78469609-78470900	HCT-116	colon:	n/a	n/a
23	MAFK	chr1:78468708-78470928	K562	blood:	n/a	chr1:78469158-78469172 chr1:78469157-78469173 chr1:78469162-78469171 chr1:78469155-78469175 chr1:78469154-78469169 chr1:78469159-78469168 chr1:78469155-78469166
24	POLR2A	chr1:78469580-78470939	GM12891	blood:	n/a	n/a
25	TAF1	chr1:78469742-78470760	K562	blood:	n/a	n/a
26	POU2F2	chr1:78469612-78470836	GM12878	blood:	n/a	chr1:78469866-78469878
27	BCL3	chr1:78469490-78470767	K562	blood:	n/a	n/a
28	JUND	chr1:78469623-78470892	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:78469196-78471142	K562	blood:	n/a	n/a
30	POLR2A	chr1:78469633-78470832	GM12878	blood:	n/a	n/a
31	CTCF	chr1:78469782-78470694	K562	blood:	n/a	n/a
32	POLR2A	chr1:78469927-78470872	H1-neurons	neurons:	n/a	n/a
33	BRCA1	chr1:78469666-78470786	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:78470247-78470753	A549	lung:	n/a	n/a
35	MAZ	chr1:78469682-78470895	K562	blood:	n/a	n/a
36	POLR2A	chr1:78469572-78470923	SK-N-MC	brain:	n/a	n/a
37	STAT3	chr1:78469995-78471019	MCF10A-Er-Src	breast:	n/a	chr1:78470132-78470140
38	ZNF143	chr1:78469193-78470824	K562	blood:	n/a	chr1:78469862-78469880
39	POLR2A	chr1:78470379-78470744	GM12878	blood:	n/a	n/a
40	STAT3	chr1:78469555-78471035	Hela-S3	cervix:	n/a	chr1:78470132-78470140
41	EP300	chr1:78468865-78471212	GM12878	blood:	n/a	chr1:78469262-78469276
42	SIN3AK20	chr1:78470379-78470764	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr1:78469593-78470848	GM18526	blood:	n/a	n/a
44	POLR2A	chr1:78469790-78470787	HepG2	liver:	n/a	n/a
45	RCOR1	chr1:78469738-78470691	HepG2	liver:	n/a	n/a
46	YY1	chr1:78470312-78470714	SK-N-SH_RA	brain:	n/a	n/a
47	PBX3	chr1:78469844-78470829	SK-N-SH	brain:	n/a	n/a
48	NFATC1	chr1:78469482-78470740	GM12878	blood:	n/a	n/a
49	CBX3	chr1:78469651-78470722	K562	blood:	n/a	n/a
50	CEBPD	chr1:78469638-78470831	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78222274..78226935-chr1:78467368..78471641,7	K562	blood:
2	chr1:78469181..78471632-chr1:85154975..85157700,2	K562	blood:
3	chr1:78468129..78475881-chr1:78555411..78565499,18	K562	blood:
4	chr1:78470285..78471002-chr19:17325505..17326178,2	Hela-S3	cervix:
5	chr1:78468848..78471469-chr13:91999787..92002475,2	K562	blood:
6	chr1:78354412..78357543-chr1:78468778..78471529,4	K562	blood:
7	chr1:78470014..78470820-chr19:11485458..11486026,2	HCT-116	colon:
8	chr1:78469772..78470679-chr6:26271386..26272299,2	Hela-S3	cervix:
9	chr1:78147072..78148946-chr1:78468394..78471551,4	K562	blood:
10	chr1:78223538..78227787-chr1:78468626..78471641,9	K562	blood:
11	chr1:36273666..36274525-chr1:78469915..78470725,2	Hela-S3	cervix:
12	chr1:78469701..78470650-chr4:10118290..10119096,2	NB4	blood:
13	chr1:78467305..78472459-chr1:78554681..78560615,12	K562	blood:
14	chr1:78469050..78471034-chr12:6647228..6648916,2	K562	blood:
15	chr1:78148235..78150616-chr1:78467949..78471468,6	K562	blood:
16	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:
17	chr1:78441900..78447727-chr1:78466477..78473207,15	MCF-7	breast:
18	chr1:67895339..67897749-chr1:78469184..78471380,2	K562	blood:
19	chr1:78469578..78470998-chr12:52444680..52445780,5	Hela-S3	cervix:
20	chr1:78470170..78473101-chr7:44834709..44837189,2	K562	blood:
21	chr1:78148970..78151388-chr1:78468544..78472172,4	K562	blood:
22	chr1:78470112..78470655-chr3:50365403..50366265,2	Hela-S3	cervix:
23	chr1:78441980..78446801-chr1:78467462..78471771,12	MCF-7	breast:
24	chr1:78245266..78247421-chr1:78469203..78472150,2	K562	blood:
25	chr1:76251016..76253217-chr1:78469296..78471512,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273338	TF binding region
ENSG00000162613	Chromatin interaction
ENSG00000269968	Chromatin interaction
ENSG00000077254	Chromatin interaction
ENSG00000222849	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000235927	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000071127	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000180488	Chromatin interaction
ENSG00000267277	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000202263	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000142864	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000213560	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000251958	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000134698	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1007335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12027636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56136178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56236539	0.92[EUR][1000 genomes]
rs56708272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56728070	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57314531	0.92[EUR][1000 genomes]
rs57604233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689438	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71244405	0.92[EUR][1000 genomes]
rs74090701	0.83[EUR][1000 genomes]
rs74092308	0.92[EUR][1000 genomes]
rs74092324	0.92[EUR][1000 genomes]
rs74092339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9663066	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv1801396	chr1:78468094-78492221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:78452800-78478800	Weak transcription	Spleen	Spleen
3	chr1:78454200-78485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:78461400-78470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:78468200-78473600	Active TSS	A549	lung
6	chr1:78468400-78475800	Active TSS	Right Atrium	heart
7	chr1:78468600-78473400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:78468600-78475000	Active TSS	K562	blood
9	chr1:78469000-78471000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:78469000-78472000	Active TSS	Primary monocytes fromperipheralblood	blood
11	chr1:78469000-78473400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:78469200-78471800	Active TSS	HSMM	muscle
13	chr1:78469200-78472600	Active TSS	HMEC	breast
14	chr1:78469200-78473400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:78469200-78473600	Active TSS	Brain Substantia Nigra	brain
16	chr1:78469200-78475400	Active TSS	NHLF	lung
17	chr1:78469400-78471800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:78469400-78472200	Active TSS	Rectal Smooth Muscle	rectum
19	chr1:78469400-78475400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:78469600-78471800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:78469600-78471800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:78469600-78472200	Active TSS	Adipose Nuclei	Adipose
23	chr1:78469600-78472600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:78469600-78472600	Active TSS	Fetal Stomach	stomach
25	chr1:78469600-78472600	Active TSS	Thymus	Thymus
26	chr1:78469600-78472800	Active TSS	Placenta	Placenta
27	chr1:78469600-78473000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:78469600-78473000	Active TSS	Fetal Intestine Large	intestine
29	chr1:78469600-78473400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:78469600-78473400	Active TSS	GM12878-XiMat	blood
31	chr1:78469600-78473400	Active TSS	Osteobl	bone
32	chr1:78469600-78473600	Active TSS	Brain Hippocampus Middle	brain
33	chr1:78469600-78474400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:78469600-78476400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:78469600-78476800	Active TSS	HSMMtube	muscle
36	chr1:78469600-78477200	Active TSS	Aorta	Aorta
37	chr1:78469800-78471000	Active TSS	Primary T cells from cord blood	blood
38	chr1:78469800-78471000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:78469800-78471200	Active TSS	Primary hematopoietic stem cells	blood
40	chr1:78469800-78471200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:78469800-78471400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:78469800-78471400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:78469800-78471400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:78469800-78471400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:78469800-78471600	Active TSS	Primary B cells from peripheral blood	blood
46	chr1:78469800-78471600	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr1:78469800-78471600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr1:78469800-78471600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:78469800-78471600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:78469800-78471600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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