Variant report

Variant	rs4393148
Chromosome Location	chr1:154452218-154452219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:154452171-154452780	IMR90	lung:	n/a	n/a
2	SRF	chr1:154452148-154452710	MCF-7	breast:	n/a	chr1:154452391-154452409
3	YY1	chr1:154452094-154452661	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr1:154452206-154452640	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr1:154452118-154452587	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr1:154452182-154452736	HepG2	liver:	n/a	n/a
7	CHD1	chr1:154451948-154452866	IMR90	lung:	n/a	n/a
8	RAD21	chr1:154452097-154452862	A549	lung:	n/a	n/a
9	CTCF	chr1:154452022-154453006	HCT-116	colon:	n/a	n/a
10	YY1	chr1:154452204-154452587	HCT-116	colon:	n/a	n/a
11	YY1	chr1:154452156-154452565	ECC-1	luminal epithelium:	n/a	n/a
12	SMC3	chr1:154452212-154452735	Hela-S3	cervix:	n/a	n/a
13	MAFF	chr1:154452143-154452621	K562	blood:	n/a	chr1:154452377-154452395
14	YY1	chr1:154452167-154452645	ECC-1	luminal epithelium:	n/a	n/a
15	YY1	chr1:154452199-154452575	A549	lung:	n/a	n/a
16	CTCF	chr1:154452041-154452896	SK-N-SH	brain:	n/a	n/a
17	RFX5	chr1:154452214-154452649	Hela-S3	cervix:	n/a	n/a
18	YY1	chr1:154452215-154452522	K562	blood:	n/a	n/a
19	MAFK	chr1:154452212-154452685	H1-hESC	embryonic stem cell:	n/a	chr1:154452378-154452393
20	RAD21	chr1:154452188-154452857	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr1:154451828-154453056	SK-N-SH	brain:	n/a	n/a
22	FOXM1	chr1:154452196-154452731	GM12878	blood:	n/a	n/a
23	BRCA1	chr1:154452181-154452576	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr1:154452076-154452957	HCT-116	colon:	n/a	n/a
25	YY1	chr1:154452140-154452607	A549	lung:	n/a	n/a
26	MAFK	chr1:154452144-154452629	IMR90	lung:	n/a	chr1:154452378-154452393
27	MAFK	chr1:154452194-154452620	HepG2	liver:	n/a	chr1:154452378-154452393
28	SRF	chr1:154452170-154452735	ECC-1	luminal epithelium:	n/a	chr1:154452391-154452409
29	CTCF	chr1:154451926-154452927	A549	lung:	n/a	n/a
30	MAFK	chr1:154452072-154452677	Hela-S3	cervix:	n/a	chr1:154452378-154452393
31	POLR2A	chr1:154452117-154452872	HUVEC	blood vessel:	n/a	n/a
32	MAFF	chr1:154452188-154452659	HepG2	liver:	n/a	chr1:154452377-154452395
33	CTCF	chr1:154452126-154452750	HCT-116	colon:	n/a	n/a
34	RFX5	chr1:154452215-154452601	HepG2	liver:	n/a	n/a
35	SRF	chr1:154452015-154452857	HCT-116	colon:	n/a	chr1:154452391-154452409
36	SRF	chr1:154452098-154452811	HCT-116	colon:	n/a	chr1:154452391-154452409
37	CTCF	chr1:154452167-154452711	K562	blood:	n/a	n/a
38	MAFK	chr1:154452189-154452609	HepG2	liver:	n/a	chr1:154452378-154452393
39	YY1	chr1:154452116-154452610	SK-N-SH_RA	brain:	n/a	n/a
40	MAFK	chr1:154452066-154453029	GM12878	blood:	n/a	chr1:154452378-154452393
41	CTCF	chr1:154452172-154452804	MCF-7	breast:	n/a	n/a
42	RAD21	chr1:154452056-154452913	HCT-116	colon:	n/a	n/a
43	MAFK	chr1:154452105-154452655	K562	blood:	n/a	chr1:154452378-154452393
44	SMC3	chr1:154452187-154452977	SK-N-SH	brain:	n/a	n/a
45	RFX5	chr1:154451417-154454216	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr1:154452138-154452808	MCF-7	breast:	n/a	n/a
47	RAD21	chr1:154452216-154452709	SK-N-SH_RA	brain:	n/a	n/a
48	UBTF	chr1:154452169-154452563	K562	blood:	n/a	n/a
49	RAD21	chr1:154452176-154452817	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154452193-154452243	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:154452193-154452243	IMR90	lung:	fetal
3	chr1:154452193-154452243	BE2_C	brain:	n/a
4	chr1:154452193-154452243	ovcar-3	ovarian:	n/a
5	chr1:154452193-154452243	HCT-116	colon:	n/a
6	chr1:154452193-154452243	AG04449	skin:	fetal
7	chr1:154452193-154452243	HL-60	blood:	n/a
8	chr1:154452193-154452243	HAEpiC	amniotic membrane:	n/a
9	chr1:154452193-154452243	MCF10A-Er-Src	breast:	n/a
10	chr1:154452193-154452243	SK-N-SH_RA	brain:	n/a
11	chr1:154452193-154452243	NH-A	brain:	n/a
12	chr1:154452193-154452243	A549	lung:	n/a
13	chr1:154452193-154452243	GM12878	blood:	n/a
14	chr1:154452193-154452243	PFSK-1	brain:	n/a
15	chr1:154452193-154452243	GM12891	blood:	n/a
16	chr1:154452193-154452243	HIPEpiC	eye:	n/a
17	chr1:154452193-154452243	Caco-2	colon:	n/a
18	chr1:154452193-154452243	RPTEC	kidney:	n/a
19	chr1:154452193-154452243	HRPEpiC	eye:	n/a
20	chr1:154452193-154452243	PrEC	prostate:	n/a
21	chr1:154452193-154452243	AoSMC	blood vessel:	n/a
22	chr1:154452193-154452243	NHDF-neo	bronchial:	n/a
23	chr1:154452193-154452243	T-47D	breast:	n/a
24	chr1:154452193-154452243	GM19239	blood:	n/a
25	chr1:154452193-154452243	HEEpiC	esophagus:	n/a
26	chr1:154452193-154452243	CMK	blood:	n/a
27	chr1:154452193-154452243	HCM	heart:	n/a
28	chr1:154452193-154452243	HCF	heart:	n/a
29	chr1:154452193-154452243	AG04450	lung:	fetal
30	chr1:154452193-154452243	NHBE	bronchial:	n/a
31	chr1:154452193-154452243	NT2-D1	testis:	n/a
32	chr1:154452193-154452243	Hela-S3	cervix:	n/a
33	chr1:154452193-154452243	SAEC	small airway:	n/a
34	chr1:154452193-154452243	U87	brain:	n/a
35	chr1:154452193-154452243	Hepatocyte	liver:	n/a
36	chr1:154452193-154452243	GM12892	blood:	n/a
37	chr1:154452193-154452243	ECC-1	luminal epithelium:	n/a
38	chr1:154452193-154452243	AG10803	skin:	n/a
39	chr1:154452193-154452243	Jurkat	blood:	n/a
40	chr1:154452193-154452243	K562	blood:	n/a
41	chr1:154452193-154452243	GM06990	blood:	n/a
42	chr1:154452193-154452243	HUVEC	blood vessel:	n/a
43	chr1:154452193-154452243	HNPCEpiC	eye:	n/a
44	chr1:154452193-154452243	HepG2	liver:	n/a
45	chr1:154452193-154452243	SK-N-MC	brain:	n/a
46	chr1:154452193-154452243	HMEC	breast:	n/a
47	chr1:154452193-154452243	ProgFib	skin:	n/a
48	chr1:154452193-154452243	SK-N-SH	brain:	n/a
49	chr1:154452193-154452243	AG09319	gingival:	n/a
50	chr1:154452193-154452243	HCPEpiC	choroid plexus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154450895..154452428-chr1:154521385..154523605,2	K562	blood:
2	chr1:154301762..154302404-chr1:154451842..154452428,2	MCF-7	breast:
3	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:
4	chr1:154450305..154454149-chr1:154524357..154527096,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273110	TF binding region
ENSG00000273110	CpG island
ENSG00000229780	Chromatin interaction
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10752642	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11265623	0.81[AFR][1000 genomes]
rs11265627	0.81[YRI][hapmap]
rs11265630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	1.00[EUR][1000 genomes]
rs1194601	1.00[EUR][1000 genomes]
rs1194605	1.00[EUR][1000 genomes]
rs1205590	1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4072391	0.88[YRI][hapmap]
rs4078519	1.00[EUR][1000 genomes]
rs4240873	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4474240	0.89[ASW][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap]
rs4518898	0.81[YRI][hapmap]
rs4520411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845635	0.82[YRI][hapmap]
rs4845646	0.94[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55857358	1.00[EUR][1000 genomes]
rs6427694	0.94[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427716	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs6666943	1.00[EUR][1000 genomes]
rs6670375	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs6678164	0.88[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681961	0.93[AFR][1000 genomes]
rs6683078	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684225	0.88[ASW][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687112	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs6691727	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs715737	1.00[EUR][1000 genomes]
rs7513603	0.83[ASW][hapmap];0.81[YRI][hapmap]
rs7515974	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7529744	1.00[MEX][hapmap]
rs7530737	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7539745	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9659545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728545	0.98[AFR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154427800-154464800	Weak transcription	Ovary	ovary
2	chr1:154438400-154457800	Weak transcription	Pancreas	Pancrea
3	chr1:154438400-154458400	Weak transcription	Gastric	stomach
4	chr1:154438400-154463400	Weak transcription	Esophagus	oesophagus
5	chr1:154438800-154454000	Weak transcription	Psoas Muscle	Psoas
6	chr1:154439400-154457600	Weak transcription	Placenta	Placenta
7	chr1:154440000-154452800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:154440000-154458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:154442400-154455200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:154442400-154455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:154442800-154452600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:154442800-154455600	Weak transcription	Left Ventricle	heart
14	chr1:154442800-154456400	Weak transcription	Spleen	Spleen
15	chr1:154443000-154452400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:154443000-154456400	Weak transcription	Right Ventricle	heart
17	chr1:154443000-154464400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:154447600-154455800	Weak transcription	Lung	lung
19	chr1:154447800-154458400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:154448400-154452400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:154448400-154452600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:154448600-154458200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:154449800-154456400	Weak transcription	Hela-S3	cervix
24	chr1:154450000-154454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:154450000-154457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:154450000-154462400	Weak transcription	Colonic Mucosa	Colon
27	chr1:154450200-154456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:154450400-154452400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:154450400-154452400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:154450400-154452400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:154450400-154453000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:154450600-154452400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:154450600-154452400	Enhancers	GM12878-XiMat	blood
34	chr1:154450600-154452600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:154450600-154452600	Enhancers	Fetal Thymus	thymus
36	chr1:154450600-154452800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:154450600-154452800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:154450800-154452400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:154450800-154453000	Enhancers	A549	lung
40	chr1:154451000-154452400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:154451000-154452400	Enhancers	HMEC	breast
42	chr1:154451400-154456400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:154451400-154456600	Weak transcription	NHEK	skin
44	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:154451800-154456800	Genic enhancers	HUVEC	blood vessel
46	chr1:154452000-154452400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:154452000-154452800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:154452000-154453600	Enhancers	Adipose Nuclei	Adipose
49	chr1:154452000-154453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:154452000-154454000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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