Variant report

Variant	rs61805740
Chromosome Location	chr1:153607004-153607005
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	SIN3AK20	chr1:153606688-153607104	K562	blood:	n/a	n/a
2	RELA	chr1:153606104-153607159	GM19099	blood:	n/a	chr1:153606396-153606405 chr1:153606396-153606405
3	MAZ	chr1:153605807-153607189	K562	blood:	n/a	n/a
4	ZNF263	chr1:153606235-153607122	HEK293-T-REx	kidney:	n/a	chr1:153606944-153606953
5	POLR2A	chr1:153606196-153607224	GM12892	blood:	n/a	n/a
6	TAF1	chr1:153606164-153607093	K562	blood:	n/a	n/a
7	ELF1	chr1:153606218-153607265	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:153605784-153607128	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr1:153606920-153607070	HUVEC	blood vessel:	n/a	n/a
10	EGR1	chr1:153606129-153607158	MCF-7	breast:	n/a	chr1:153606969-153606982 chr1:153606842-153606856 chr1:153606944-153606957 chr1:153607001-153607025 chr1:153606890-153606904
11	CTCF	chr1:153606900-153607050	Caco-2	colon:	n/a	n/a
12	POLR2A	chr1:153605941-153607096	HepG2	liver:	n/a	n/a
13	MXI1	chr1:153606070-153607143	K562	blood:	n/a	n/a
14	TEAD4	chr1:153606115-153607323	SK-N-SH	brain:	n/a	n/a
15	BHLHE40	chr1:153606097-153607039	GM12878	blood:	n/a	n/a
16	MAX	chr1:153606270-153607186	SK-N-SH	brain:	n/a	n/a
17	MAX	chr1:153605810-153607189	A549	lung:	n/a	n/a
18	ETS1	chr1:153606626-153607072	K562	blood:	n/a	chr1:153606972-153606983
19	CREB1	chr1:153606156-153607155	HepG2	liver:	n/a	n/a
20	MYC	chr1:153606175-153607173	K562	blood:	n/a	n/a
21	POLR2A	chr1:153605809-153607159	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr1:153606132-153607284	A549	lung:	n/a	chr1:153606456-153606467
23	RFX5	chr1:153606118-153607198	K562	blood:	n/a	n/a
24	CHD1	chr1:153606479-153607289	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr1:153606295-153607037	HepG2	liver:	n/a	n/a
26	SP1	chr1:153605707-153607215	A549	lung:	n/a	chr1:153606973-153606985 chr1:153605946-153605955 chr1:153606967-153606979 chr1:153606367-153606377 chr1:153606378-153606388 chr1:153606973-153606985 chr1:153606948-153606960 chr1:153606367-153606377 chr1:153606945-153606959 chr1:153606967-153606979 chr1:153606975-153606984 chr1:153606378-153606388 chr1:153606379-153606388 chr1:153606968-153606977 chr1:153606964-153606978 chr1:153606379-153606388 chr1:153606378-153606387 chr1:153606377-153606389 chr1:153606974-153606983 chr1:153606377-153606389 chr1:153606974-153606984 chr1:153606969-153606978 chr1:153606374-153606388
27	TAF1	chr1:153606182-153607207	MCF-7	breast:	n/a	n/a
28	FOXA2	chr1:153606694-153607041	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:153606073-153607124	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153605847-153607252	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr1:153606215-153607107	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chr1:153606312-153607286	HL-60	blood:	n/a	n/a
33	POLR2A	chr1:153605867-153607084	MCF-7	breast:	n/a	n/a
34	FOXA2	chr1:153606535-153607129	A549	lung:	n/a	n/a
35	TBP	chr1:153606155-153607191	GM12878	blood:	n/a	n/a
36	KAP1	chr1:153605979-153607148	U2OS	brain:	n/a	n/a
37	POLR2A	chr1:153606115-153607107	GM18951	blood:	n/a	n/a
38	MYBL2	chr1:153606184-153607092	HepG2	liver:	n/a	n/a
39	E2F4	chr1:153606254-153607136	GM12878	blood:	n/a	chr1:153606456-153606467
40	GABPA	chr1:153605947-153607076	MCF-7	breast:	n/a	n/a
41	GATA3	chr1:153606328-153607154	T-47D	breast:	n/a	n/a
42	KAP1	chr1:153605940-153607140	HEK293	kidney:	n/a	n/a
43	POLR2A	chr1:153606067-153607172	Raji	blood:	n/a	n/a
44	POLR2A	chr1:153606002-153607263	PANC-1	pancreas:	n/a	n/a
45	TEAD4	chr1:153605975-153607133	ECC-1	luminal epithelium:	n/a	n/a
46	REST	chr1:153606324-153607010	PFSK-1	brain:	n/a	n/a
47	E2F4	chr1:153606194-153607189	Hela-S3	cervix:	n/a	chr1:153606456-153606467
48	MYC	chr1:153606312-153607047	HUVEC	blood vessel:	n/a	n/a
49	STAT5A	chr1:153606418-153607154	GM12878	blood:	n/a	chr1:153606976-153606988 chr1:153607035-153607046 chr1:153606970-153606982
50	ELF1	chr1:153606112-153607211	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153605618..153608356-chr1:153961854..153964729,2	MCF-7	breast:
2	chr1:153604905..153607517-chr1:153700319..153703388,3	MCF-7	breast:
3	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
4	chr1:153605481..153608017-chr1:153747130..153748871,2	MCF-7	breast:
5	chr1:153605802..153608148-chr1:153700322..153702139,2	K562	blood:
6	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
7	chr1:153605524..153607926-chr1:154955146..154957137,2	K562	blood:
8	chr1:149222274..149224948-chr1:153604341..153607220,2	MCF-7	breast:
9	chr1:153606923..153607571-chr11:64019351..64020057,2	Hela-S3	cervix:
10	chr1:153604957..153607992-chr1:153642564..153646231,5	MCF-7	breast:
11	chr1:153606510..153607261-chr9:74525343..74526338,2	Hela-S3	cervix:
12	chr1:153507230..153509062-chr1:153605925..153607769,2	MCF-7	breast:
13	chr1:153504329..153507150-chr1:153606463..153608211,3	MCF-7	breast:
14	chr1:152008592..152010631-chr1:153605290..153607916,2	MCF-7	breast:
15	chr1:153536900..153539436-chr1:153605197..153607603,3	K562	blood:
16	chr1:153605540..153608540-chr1:153937612..153940414,3	MCF-7	breast:
17	chr1:153606580..153607386-chr11:35159581..35160522,2	Hela-S3	cervix:
18	chr1:153605696..153608522-chr1:153629929..153633320,6	MCF-7	breast:
19	chr1:153508630..153510790-chr1:153606132..153607908,2	K562	blood:
20	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:
21	chr1:153604949..153608172-chr1:153935177..153937108,3	K562	blood:
22	chr1:153604928..153608647-chr1:153747112..153750594,4	MCF-7	breast:
23	chr1:153606484..153608148-chr1:153700201..153701822,2	K562	blood:

Variant related genes	Relation type
CHTOP	TF binding region
ENSG00000271853	TF binding region
ENSG00000272030	TF binding region
S100A13	TF binding region
ENSG00000196754	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000026508	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000107362	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10158761	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728059	0.87[EUR][1000 genomes]
rs9728400	0.85[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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153605800-153607800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:153605800-153608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:153605800-153608000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:153605800-153608000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:153605800-153608200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:153606000-153607200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:153606000-153607400	Active TSS	Fetal Brain Male	brain
8	chr1:153606000-153607400	Active TSS	Thymus	Thymus
9	chr1:153606000-153607600	Active TSS	Primary T cells from cord blood	blood
10	chr1:153606000-153607800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:153606000-153607800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:153606000-153607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:153606000-153607800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr1:153606000-153607800	Active TSS	Brain Germinal Matrix	brain
15	chr1:153606000-153607800	Active TSS	Fetal Brain Female	brain
16	chr1:153606000-153608000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:153606000-153608200	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:153606000-153608400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:153606000-153608400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:153606000-153608400	Active TSS	Psoas Muscle	Psoas
21	chr1:153606000-153608400	Active TSS	A549	lung
22	chr1:153606000-153608400	Active TSS	HSMM	muscle
23	chr1:153606000-153608600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:153606000-153608600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:153606200-153607400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:153606200-153607400	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr1:153606200-153607400	Active TSS	Adipose Nuclei	Adipose
28	chr1:153606200-153607400	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:153606200-153607600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:153606200-153607600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:153606200-153607600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:153606200-153607600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:153606200-153607600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:153606200-153607600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:153606200-153607600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:153606200-153607600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:153606200-153607600	Active TSS	Fetal Intestine Small	intestine
38	chr1:153606200-153607600	Active TSS	Fetal Stomach	stomach
39	chr1:153606200-153607800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:153606200-153607800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:153606200-153607800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:153606200-153607800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr1:153606200-153607800	Active TSS	Fetal Kidney	kidney
44	chr1:153606200-153607800	Active TSS	Left Ventricle	heart
45	chr1:153606200-153607800	Active TSS	Lung	lung
46	chr1:153606200-153607800	Active TSS	NH-A	brain
47	chr1:153606200-153607800	Active TSS	NHDF-Ad	bronchial
48	chr1:153606200-153607800	Active TSS	NHEK	skin
49	chr1:153606200-153608000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:153606200-153608000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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