Variant report

Variant	rs9427340
Chromosome Location	chr1:153606394-153606395
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:476)
CpG islands
(count:122)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:153606314-153606707	GM12878	blood:	n/a	chr1:153606542-153606562
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	NRF1	chr1:153606235-153606644	H1-hESC	embryonic stem cell:	n/a	chr1:153606436-153606447
7	TAF1	chr1:153606164-153607093	K562	blood:	n/a	n/a
8	ELF1	chr1:153606218-153607265	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:153605784-153607128	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	POLR2A	chr1:153605941-153607096	HepG2	liver:	n/a	n/a
12	ELK1	chr1:153606071-153606439	K562	blood:	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	TEAD4	chr1:153606319-153606911	A549	lung:	n/a	n/a
19	CREB1	chr1:153606156-153607155	HepG2	liver:	n/a	n/a
20	MYC	chr1:153606175-153607173	K562	blood:	n/a	n/a
21	MYBL2	chr1:153606257-153606940	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:153605809-153607159	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr1:153606132-153607284	A549	lung:	n/a	chr1:153606456-153606467
24	RFX5	chr1:153606118-153607198	K562	blood:	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	ZNF143	chr1:153605906-153606908	Hela-S3	cervix:	n/a	chr1:153606037-153606052 chr1:153606036-153606055
29	ZNF143	chr1:153606220-153606940	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153606073-153607124	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:153605847-153607252	Hela-S3	cervix:	n/a	n/a
32	FOS	chr1:153606231-153606617	MCF10A-Er-Src	breast:	n/a	n/a
33	CREB1	chr1:153606215-153607107	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr1:153606333-153606959	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr1:153606312-153607286	HL-60	blood:	n/a	n/a
36	NRF1	chr1:153606252-153606630	HepG2	liver:	n/a	chr1:153606436-153606447
37	POLR2A	chr1:153605867-153607084	MCF-7	breast:	n/a	n/a
38	TBP	chr1:153606155-153607191	GM12878	blood:	n/a	n/a
39	KAP1	chr1:153605979-153607148	U2OS	brain:	n/a	n/a
40	POLR2A	chr1:153606115-153607107	GM18951	blood:	n/a	n/a
41	MYBL2	chr1:153606184-153607092	HepG2	liver:	n/a	n/a
42	E2F4	chr1:153606254-153607136	GM12878	blood:	n/a	chr1:153606456-153606467
43	GABPA	chr1:153605947-153607076	MCF-7	breast:	n/a	n/a
44	SIN3AK20	chr1:153606312-153606975	A549	lung:	n/a	n/a
45	GATA3	chr1:153606328-153607154	T-47D	breast:	n/a	n/a
46	KAP1	chr1:153605940-153607140	HEK293	kidney:	n/a	n/a
47	POLR2A	chr1:153606067-153607172	Raji	blood:	n/a	n/a
48	POLR2A	chr1:153606002-153607263	PANC-1	pancreas:	n/a	n/a
49	TEAD4	chr1:153605975-153607133	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr1:153606324-153607010	PFSK-1	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153606383-153606433	LNCaP	prostate:	n/a
2	chr1:153606345-153606395	HL-60	blood:	n/a
3	chr1:153606345-153606395	HNPCEpiC	eye:	n/a
4	chr1:153606345-153606395	SKMC	muscle:	n/a
5	chr1:153606383-153606433	GM19239	blood:	n/a
6	chr1:153606345-153606395	ECC-1	luminal epithelium:	n/a
7	chr1:153606345-153606395	RPTEC	kidney:	n/a
8	chr1:153606345-153606395	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:153606383-153606433	NB4	blood:	n/a
10	chr1:153606383-153606433	NH-A	brain:	n/a
11	chr1:153606345-153606395	A549	lung:	n/a
12	chr1:153606345-153606395	SK-N-SH	brain:	n/a
13	chr1:153606383-153606433	NT2-D1	testis:	n/a
14	chr1:153606345-153606395	SK-N-SH_RA	brain:	n/a
15	chr1:153606383-153606433	PFSK-1	brain:	n/a
16	chr1:153606383-153606433	BJ	skin:	n/a
17	chr1:153606383-153606433	GM12878	blood:	n/a
18	chr1:153606383-153606433	A549	lung:	n/a
19	chr1:153606345-153606395	U87	brain:	n/a
20	chr1:153606345-153606395	HRPEpiC	eye:	n/a
21	chr1:153606345-153606395	HCF	heart:	n/a
22	chr1:153606345-153606395	AG04449	skin:	fetal
23	chr1:153606383-153606433	HRPEpiC	eye:	n/a
24	chr1:153606383-153606433	HMEC	breast:	n/a
25	chr1:153606345-153606395	H1-hESC	embryonic stem cell:	embryo
26	chr1:153606345-153606395	AG10803	skin:	n/a
27	chr1:153606345-153606395	NH-A	brain:	n/a
28	chr1:153606383-153606433	NHBE	bronchial:	n/a
29	chr1:153606383-153606433	H1-hESC	embryonic stem cell:	embryo
30	chr1:153606383-153606433	Hepatocyte	liver:	n/a
31	chr1:153606383-153606433	HUVEC	blood vessel:	n/a
32	chr1:153606345-153606395	HCM	heart:	n/a
33	chr1:153606383-153606433	HCPEpiC	choroid plexus:	n/a
34	chr1:153606345-153606395	HMEC	breast:	n/a
35	chr1:153606383-153606433	SAEC	small airway:	n/a
36	chr1:153606383-153606433	AG09309	skin:	n/a
37	chr1:153606383-153606433	NHDF-neo	bronchial:	n/a
38	chr1:153606345-153606395	HCPEpiC	choroid plexus:	n/a
39	chr1:153606383-153606433	SKMC	muscle:	n/a
40	chr1:153606383-153606433	HIPEpiC	eye:	n/a
41	chr1:153606383-153606433	RPTEC	kidney:	n/a
42	chr1:153606383-153606433	AG04450	lung:	fetal
43	chr1:153606345-153606395	IMR90	lung:	fetal
44	chr1:153606383-153606433	HNPCEpiC	eye:	n/a
45	chr1:153606383-153606433	HCM	heart:	n/a
46	chr1:153606345-153606395	HUVEC	blood vessel:	n/a
47	chr1:153606345-153606395	K562	blood:	n/a
48	chr1:153606345-153606395	ovcar-3	ovarian:	n/a
49	chr1:153606345-153606395	Hepatocyte	liver:	n/a
50	chr1:153606383-153606433	HL-60	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153605618..153608356-chr1:153961854..153964729,2	MCF-7	breast:
2	chr1:153603477..153606996-chr1:153962238..153964716,3	K562	blood:
3	chr1:153604905..153607517-chr1:153700319..153703388,3	MCF-7	breast:
4	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
5	chr1:153605481..153608017-chr1:153747130..153748871,2	MCF-7	breast:
6	chr1:153605802..153608148-chr1:153700322..153702139,2	K562	blood:
7	chr1:153605917..153606425-chr5:85913539..85914060,2	Hela-S3	cervix:
8	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
9	chr1:153604920..153606894-chr1:153640638..153643940,3	K562	blood:
10	chr1:153605524..153607926-chr1:154955146..154957137,2	K562	blood:
11	chr1:149222274..149224948-chr1:153604341..153607220,2	MCF-7	breast:
12	chr1:153539289..153541606-chr1:153604560..153606747,2	K562	blood:
13	chr1:153603827..153606641-chr1:153939224..153941084,2	MCF-7	breast:
14	chr1:153604957..153607992-chr1:153642564..153646231,5	MCF-7	breast:
15	chr1:153507230..153509062-chr1:153605925..153607769,2	MCF-7	breast:
16	chr1:153606114..153606989-chr4:174255208..174256194,2	NB4	blood:
17	chr1:152008592..152010631-chr1:153605290..153607916,2	MCF-7	breast:
18	chr1:153536900..153539436-chr1:153605197..153607603,3	K562	blood:
19	chr1:153605540..153608540-chr1:153937612..153940414,3	MCF-7	breast:
20	chr1:153605696..153608522-chr1:153629929..153633320,6	MCF-7	breast:
21	chr1:153508630..153510790-chr1:153606132..153607908,2	K562	blood:
22	chr1:153606002..153606877-chr15:63796219..63796896,2	Hela-S3	cervix:
23	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:
24	chr1:153604905..153606814-chr1:153723152..153725405,2	K562	blood:
25	chr1:153604949..153608172-chr1:153935177..153937108,3	K562	blood:
26	chr1:153604928..153608647-chr1:153747112..153750594,4	MCF-7	breast:

No data

Variant related genes	Relation type
CHTOP	TF binding region
S100A13	TF binding region
ENSG00000272030	TF binding region
S100A13	CpG island
ENSG00000272030	CpG island
CHTOP	CpG island
ENSG00000164104	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000233222	Chromatin interaction
ENSG00000127184	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000140455	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000243613	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000196754	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6663046	1.00[ASN][1000 genomes]
rs6665473	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9427391	1.00[ASN][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153600000-153606600	Weak transcription	Aorta	Aorta
2	chr1:153600400-153606400	Weak transcription	Small Intestine	intestine
3	chr1:153600800-153606400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:153602200-153606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:153602800-153606400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:153603000-153606600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:153605200-153606400	Enhancers	Spleen	Spleen
8	chr1:153605200-153606400	Flanking Active TSS	Hela-S3	cervix
9	chr1:153605600-153606400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:153605600-153606400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr1:153605600-153606400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:153605600-153606400	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr1:153605600-153606400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr1:153605600-153606600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:153605600-153606600	Enhancers	Fetal Heart	heart
16	chr1:153605800-153606400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:153605800-153606400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:153605800-153606400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:153605800-153606400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:153605800-153606400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:153605800-153606400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:153605800-153606400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:153605800-153606400	Flanking Active TSS	Liver	Liver
24	chr1:153605800-153606400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:153605800-153606400	Flanking Active TSS	Pancreas	Pancrea
26	chr1:153605800-153606400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr1:153605800-153606400	Flanking Active TSS	HUVEC	blood vessel
28	chr1:153605800-153606400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:153605800-153606800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:153605800-153607800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:153605800-153608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:153605800-153608000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:153605800-153608000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:153605800-153608200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:153606000-153606400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:153606000-153606400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr1:153606000-153606400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr1:153606000-153606400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:153606000-153606400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:153606000-153606400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:153606000-153606400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:153606000-153606400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:153606000-153606400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:153606000-153606400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:153606000-153606400	Flanking Active TSS	Colonic Mucosa	Colon
46	chr1:153606000-153606400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr1:153606000-153606400	Enhancers	Fetal Lung	lung
48	chr1:153606000-153606400	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr1:153606000-153606400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr1:153606000-153606400	Flanking Active TSS	Placenta	Placenta

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