Variant report

Variant	rs4073
Chromosome Location	chr4:74606024-74606025
allele	A/T
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	STAT3	chr4:74606012-74606520	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:74605966-74607511	HL-60	blood:	n/a	n/a
3	JUND	chr4:74605892-74606515	SK-N-SH	brain:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
4	CEBPB	chr4:74605853-74606635	HCT-116	colon:	n/a	n/a
5	GATA3	chr4:74605828-74606742	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr4:74605941-74606542	A549	lung:	n/a	n/a
7	GATA1	chr4:74605036-74606581	PBDE	blood:	n/a	n/a
8	TCF12	chr4:74605959-74606642	SK-N-SH	brain:	n/a	n/a
9	MYC	chr4:74606007-74606622	MCF10A-Er-Src	breast:	n/a	chr4:74606148-74606157
10	EP300	chr4:74605891-74606592	SK-N-SH	brain:	n/a	n/a
11	SP1	chr4:74605942-74606586	A549	lung:	n/a	n/a
12	ELF1	chr4:74605926-74606689	HCT-116	colon:	n/a	n/a
13	TCF7L2	chr4:74605285-74606563	PANC-1	pancreas:	n/a	chr4:74606147-74606156
14	SPI1	chr4:74605971-74606567	HL-60	blood:	n/a	n/a
15	CEBPB	chr4:74605902-74606453	A549	lung:	n/a	n/a
16	FOSL2	chr4:74605887-74606598	SK-N-SH	brain:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156
17	SP1	chr4:74605962-74606704	HCT-116	colon:	n/a	n/a
18	PBX3	chr4:74605923-74606610	SK-N-SH	brain:	n/a	n/a
19	SP1	chr4:74605854-74606603	HCT-116	colon:	n/a	n/a
20	JUND	chr4:74605853-74606589	HCT-116	colon:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
21	CEBPB	chr4:74606007-74606251	K562	blood:	n/a	n/a
22	TFAP2A	chr4:74606002-74606447	Hela-S3	cervix:	n/a	chr4:74606159-74606173 chr4:74606159-74606174 chr4:74606160-74606172 chr4:74606160-74606172 chr4:74606147-74606156 chr4:74606159-74606173 chr4:74606160-74606172 chr4:74606160-74606171
23	JUND	chr4:74606015-74606359	A549	lung:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
24	JUND	chr4:74605898-74606558	K562	blood:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
25	ELF1	chr4:74605978-74606481	K562	blood:	n/a	n/a
26	FOXA2	chr4:74606018-74606669	A549	lung:	n/a	n/a
27	FOS	chr4:74605887-74606599	HUVEC	blood vessel:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606146-74606157 chr4:74606148-74606156 chr4:74606148-74606156
28	EP300	chr4:74606016-74606499	K562	blood:	n/a	n/a
29	TCF12	chr4:74605797-74606673	A549	lung:	n/a	n/a
30	TCF7L2	chr4:74605526-74606377	HEK293	kidney:	n/a	chr4:74606147-74606156
31	TCF7L2	chr4:74605176-74606571	HCT-116	colon:	n/a	chr4:74606147-74606156
32	POLR2A	chr4:74605991-74610576	Hela-S3	cervix:	n/a	n/a
33	JUND	chr4:74605940-74606440	Hela-S3	cervix:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
34	ATF3	chr4:74605945-74606350	K562	blood:	n/a	n/a
35	FOSL1	chr4:74605913-74606609	HCT-116	colon:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156
36	TCF7L2	chr4:74605702-74606358	Hela-S3	cervix:	n/a	chr4:74606147-74606156
37	POLR2A	chr4:74606021-74606552	HUVEC	blood vessel:	n/a	n/a
38	FOS	chr4:74605967-74606527	MCF10A-Er-Src	breast:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606146-74606157 chr4:74606148-74606156 chr4:74606148-74606156
39	FOS	chr4:74605985-74606453	MCF10A-Er-Src	breast:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606146-74606157 chr4:74606148-74606156 chr4:74606148-74606156
40	MAX	chr4:74605972-74606661	HCT-116	colon:	n/a	chr4:74606148-74606157
41	JUN	chr4:74605952-74606509	HUVEC	blood vessel:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156
42	STAT3	chr4:74606008-74606541	MCF10A-Er-Src	breast:	n/a	n/a
43	TFAP2C	chr4:74606017-74606506	Hela-S3	cervix:	n/a	n/a
44	STAT3	chr4:74605958-74606890	MCF10A-Er-Src	breast:	n/a	n/a
45	FOSL1	chr4:74605854-74606649	HCT-116	colon:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156
46	TCF7L2	chr4:74605383-74606581	Hela-S3	cervix:	n/a	chr4:74606147-74606156
47	STAT3	chr4:74606008-74606503	MCF10A-Er-Src	breast:	n/a	n/a
48	NFIC	chr4:74606001-74606686	SK-N-SH	brain:	n/a	n/a
49	JUND	chr4:74605932-74606608	HCT-116	colon:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156 chr4:74606146-74606157
50	REST	chr4:74605929-74606538	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74123296..74125010-chr4:74605307..74607860,2	K562	blood:

Variant related genes	Relation type
IL8	TF binding region
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10005565	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009462	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009488	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10010970	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10012962	0.82[ASN][1000 genomes]
rs10015626	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10019318	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031141	0.80[EUR][1000 genomes]
rs10938092	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10938094	0.83[ASN][1000 genomes]
rs10938095	0.83[ASN][1000 genomes]
rs10938096	0.80[ASN][1000 genomes]
rs10938097	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10938100	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126647	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730284	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730560	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730667	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938389	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12503139	0.80[ASN][1000 genomes]
rs12644561	0.80[ASN][1000 genomes]
rs13106097	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109146	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13109377	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112910	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116536	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13117876	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13151869	0.80[ASN][1000 genomes]
rs16849928	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849945	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16849958	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951235	0.82[ASN][1000 genomes]
rs1951236	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951240	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951242	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957070	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957661	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145617	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2224434	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2227306	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227307	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227521	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227543	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2367276	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28609798	0.83[ASN][1000 genomes]
rs28612337	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2886920	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2886922	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4279174	0.82[ASN][1000 genomes]
rs4549349	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694178	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694636	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694637	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312370	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446959	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446960	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6820848	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6853679	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689435	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9999262	0.82[ASN][1000 genomes]
rs9999446	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv980219	chr4:74603561-74618789	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74600400-74606200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:74600600-74606200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:74600800-74606200	Weak transcription	HMEC	breast
4	chr4:74604800-74606200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:74604800-74606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:74605000-74606200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:74605000-74606200	Enhancers	Hela-S3	cervix
8	chr4:74605200-74606200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:74605200-74606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74605400-74606200	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:74605400-74606200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:74605400-74606200	Weak transcription	Left Ventricle	heart
13	chr4:74605400-74606200	Enhancers	A549	lung
14	chr4:74605400-74606200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:74605400-74606400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:74605400-74606600	Enhancers	Adipose Nuclei	Adipose
17	chr4:74605400-74606800	Enhancers	NH-A	brain
18	chr4:74605400-74607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74605400-74607400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:74605600-74606200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:74605600-74606200	Enhancers	NHEK	skin
22	chr4:74605800-74606200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:74605800-74606400	Weak transcription	NHLF	lung
24	chr4:74605800-74606600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:74605800-74606600	Enhancers	Liver	Liver
26	chr4:74605800-74607400	Flanking Active TSS	HUVEC	blood vessel
27	chr4:74606000-74606200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:74606000-74606400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:74606000-74606400	Flanking Active TSS	K562	blood
30	chr4:74606000-74606800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:74606000-74607400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:74606000-74607400	Enhancers	Osteobl	bone

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