Variant report

Variant	rs60927243
Chromosome Location	chr4:130015072-130015073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:130014275-130015087	Gliobla	brain:	n/a	n/a
2	MXI1	chr4:130012946-130016268	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:130014165-130015091	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:130014362-130015083	ProgFib	skin:	n/a	n/a
5	POLR2A	chr4:130013816-130015128	GM19099	blood:	n/a	n/a
6	SIN3A	chr4:130014099-130015151	GM12878	blood:	n/a	chr4:130014674-130014687
7	POLR2A	chr4:130014245-130015106	NB4	blood:	n/a	n/a
8	POLR2A	chr4:130014164-130015109	MCF10A-Er-Src	breast:	n/a	n/a
9	RCOR1	chr4:130013827-130015269	K562	blood:	n/a	n/a
10	FOXM1	chr4:130014122-130015272	ECC-1	luminal epithelium:	n/a	n/a
11	RCOR1	chr4:130013701-130015157	Hela-S3	cervix:	n/a	n/a
12	NFYB	chr4:130014560-130015280	K562	blood:	n/a	n/a
13	MAX	chr4:130014170-130015120	MCF-7	breast:	n/a	n/a
14	FOXM1	chr4:130014014-130015358	ECC-1	luminal epithelium:	n/a	n/a
15	SMC3	chr4:130014610-130015087	HepG2	liver:	n/a	n/a
16	EBF1	chr4:130013910-130015276	GM12878	blood:	n/a	n/a
17	TAF1	chr4:130014147-130015107	ECC-1	luminal epithelium:	n/a	n/a
18	GTF2F1	chr4:130014375-130015257	Hela-S3	cervix:	n/a	n/a
19	FOXM1	chr4:130014002-130015194	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr4:130014098-130015074	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:130014079-130015126	GM19193	blood:	n/a	n/a
22	STAT1	chr4:130014266-130015169	GM12878	blood:	n/a	n/a
23	CREB1	chr4:130014434-130015086	ECC-1	luminal epithelium:	n/a	n/a
24	JUND	chr4:130014231-130015085	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:130011739-130015326	IMR90	lung:	n/a	n/a
26	TBL1XR1	chr4:130014386-130015499	K562	blood:	n/a	n/a
27	TBP	chr4:130013168-130015332	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:130013927-130015098	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr4:130014425-130015128	ECC-1	luminal epithelium:	n/a	n/a
30	CHD2	chr4:130014180-130015185	GM12878	blood:	n/a	n/a
31	FOXM1	chr4:130014175-130015088	GM12878	blood:	n/a	n/a
32	CEBPB	chr4:130014365-130015113	HCT-116	colon:	n/a	n/a
33	POLR2A	chr4:130014203-130015123	U87	brain:	n/a	n/a
34	TAF1	chr4:130014237-130015181	H1-neurons	neurons:	n/a	n/a
35	WRNIP1	chr4:130013887-130015198	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:130014173-130015085	GM18526	blood:	n/a	n/a
37	TBP	chr4:130013915-130015266	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:130013815-130015194	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:130013932-130015123	GM18505	blood:	n/a	n/a
40	MAX	chr4:130014017-130015160	ECC-1	luminal epithelium:	n/a	n/a
41	CHD2	chr4:130014277-130015112	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:130013800-130015307	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:130012893-130015801	MCF10A-Er-Src	breast:	n/a	n/a
44	CEBPB	chr4:130014219-130015076	K562	blood:	n/a	chr4:130014280-130014293
45	MXI1	chr4:130013134-130015186	GM12878	blood:	n/a	n/a
46	MAX	chr4:130014124-130015161	HepG2	liver:	n/a	n/a
47	RUNX3	chr4:130014214-130015267	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:130014096-130015111	HL-60	blood:	n/a	n/a
49	MAX	chr4:130014166-130015102	A549	lung:	n/a	n/a
50	JUND	chr4:130014016-130015564	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
2	chr4:129731090..129733904-chr4:130015000..130016574,3	K562	blood:
3	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
4	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

No data

Variant related genes	Relation type
C4orf33	TF binding region
SCLT1	TF binding region
ENSG00000151470	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10518540	0.83[ASN][1000 genomes]
rs11934130	1.00[ASN][1000 genomes]
rs11935616	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11936845	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11940367	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11944075	1.00[ASN][1000 genomes]
rs11944782	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11945797	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11945943	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446997	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1446998	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17013912	0.83[ASN][1000 genomes]
rs17013921	0.83[ASN][1000 genomes]
rs17013948	0.83[ASN][1000 genomes]
rs17013950	0.83[ASN][1000 genomes]
rs17013952	0.83[ASN][1000 genomes]
rs17013957	0.83[ASN][1000 genomes]
rs17013959	0.83[ASN][1000 genomes]
rs17013962	0.83[ASN][1000 genomes]
rs1807772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2167243	1.00[ASN][1000 genomes]
rs34610325	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3765056	1.00[ASN][1000 genomes]
rs4323125	1.00[ASN][1000 genomes]
rs55722445	1.00[ASN][1000 genomes]
rs55726726	0.83[ASN][1000 genomes]
rs55764329	1.00[ASN][1000 genomes]
rs56133600	0.83[ASN][1000 genomes]
rs56736556	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56873035	1.00[ASN][1000 genomes]
rs57211895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57821290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58053026	1.00[ASN][1000 genomes]
rs58916388	1.00[ASN][1000 genomes]
rs58952520	1.00[ASN][1000 genomes]
rs59003275	1.00[ASN][1000 genomes]
rs59089843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59443911	1.00[ASN][1000 genomes]
rs60404916	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60617520	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61177405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61264206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61467458	0.83[ASN][1000 genomes]
rs61491906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72922045	1.00[ASN][1000 genomes]
rs72922049	1.00[ASN][1000 genomes]
rs72922051	1.00[ASN][1000 genomes]
rs72922052	1.00[ASN][1000 genomes]
rs72922056	1.00[ASN][1000 genomes]
rs72922058	1.00[ASN][1000 genomes]
rs72922062	1.00[ASN][1000 genomes]
rs72922082	1.00[ASN][1000 genomes]
rs72922083	0.86[ASN][1000 genomes]
rs72922091	1.00[ASN][1000 genomes]
rs72922096	1.00[ASN][1000 genomes]
rs72922102	1.00[ASN][1000 genomes]
rs72924107	1.00[ASN][1000 genomes]
rs72924109	1.00[ASN][1000 genomes]
rs72924111	1.00[ASN][1000 genomes]
rs72924119	1.00[ASN][1000 genomes]
rs72924120	1.00[ASN][1000 genomes]
rs72924125	1.00[ASN][1000 genomes]
rs72924128	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924140	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924141	1.00[ASN][1000 genomes]
rs72924143	1.00[ASN][1000 genomes]
rs72924145	1.00[ASN][1000 genomes]
rs72924147	1.00[ASN][1000 genomes]
rs72924151	1.00[ASN][1000 genomes]
rs72924153	1.00[ASN][1000 genomes]
rs72924155	1.00[ASN][1000 genomes]
rs72924164	1.00[ASN][1000 genomes]
rs72924166	1.00[ASN][1000 genomes]
rs72924176	1.00[ASN][1000 genomes]
rs72924178	1.00[ASN][1000 genomes]
rs72924187	1.00[ASN][1000 genomes]
rs72924189	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924196	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926023	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926033	0.88[AFR][1000 genomes]
rs72926055	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926059	1.00[ASN][1000 genomes]
rs72926066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72926070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927916	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73847303	1.00[ASN][1000 genomes]
rs73847310	1.00[ASN][1000 genomes]
rs73847338	1.00[ASN][1000 genomes]
rs73847349	1.00[ASN][1000 genomes]
rs73850029	0.83[ASN][1000 genomes]
rs73850031	0.83[ASN][1000 genomes]
rs73850033	0.83[ASN][1000 genomes]
rs73850038	0.83[ASN][1000 genomes]
rs73850040	0.83[ASN][1000 genomes]
rs73850042	0.83[ASN][1000 genomes]
rs73850043	0.83[ASN][1000 genomes]
rs73850062	1.00[ASN][1000 genomes]
rs73850063	1.00[ASN][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:130011200-130016000	Active TSS	NHLF	lung
2	chr4:130011200-130016400	Active TSS	GM12878-XiMat	blood
3	chr4:130012200-130015400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:130012200-130015400	Active TSS	A549	lung
5	chr4:130012400-130015800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:130012600-130015800	Active TSS	Brain Hippocampus Middle	brain
7	chr4:130012800-130015400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:130012800-130015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:130012800-130015400	Active TSS	Fetal Muscle Trunk	muscle
10	chr4:130012800-130015400	Active TSS	HMEC	breast
11	chr4:130012800-130015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:130012800-130018600	Active TSS	K562	blood
13	chr4:130013000-130015200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:130013000-130015200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:130013000-130015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:130013000-130015400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:130013000-130015400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:130013000-130015400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:130013200-130015200	Active TSS	Esophagus	oesophagus
20	chr4:130013200-130015200	Active TSS	Fetal Kidney	kidney
21	chr4:130013200-130015400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:130013200-130015400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:130013200-130015400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:130013200-130015400	Active TSS	Aorta	Aorta
25	chr4:130013200-130015400	Active TSS	Brain Cingulate Gyrus	brain
26	chr4:130013200-130015400	Active TSS	Colon Smooth Muscle	Colon
27	chr4:130013200-130015400	Active TSS	Fetal Stomach	stomach
28	chr4:130013200-130015600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:130013400-130015200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr4:130013400-130015200	Active TSS	Placenta	Placenta
31	chr4:130013400-130015200	Active TSS	Pancreas	Pancrea
32	chr4:130013400-130015200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr4:130013400-130015200	Active TSS	HSMMtube	muscle
34	chr4:130013400-130015400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:130013400-130015400	Active TSS	Colonic Mucosa	Colon
36	chr4:130013400-130015400	Active TSS	Fetal Intestine Large	intestine
37	chr4:130013400-130015400	Active TSS	Psoas Muscle	Psoas
38	chr4:130013400-130015400	Active TSS	Right Atrium	heart
39	chr4:130013400-130015400	Active TSS	Right Ventricle	heart
40	chr4:130013400-130015400	Active TSS	Thymus	Thymus
41	chr4:130013400-130015600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:130013400-130015600	Active TSS	Fetal Muscle Leg	muscle
43	chr4:130013400-130015800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:130013600-130015200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr4:130013600-130015200	Active TSS	Brain Germinal Matrix	brain
46	chr4:130013600-130015200	Active TSS	Fetal Heart	heart
47	chr4:130013600-130015200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:130013600-130015200	Active TSS	HSMM	muscle
49	chr4:130013600-130015400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:130013600-130015400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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