Variant report

Variant	rs2227532
Chromosome Location	chr4:74605532-74605533
allele	C/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	GATA1	chr4:74605036-74606581	PBDE	blood:	n/a	n/a
2	TCF7L2	chr4:74605285-74606563	PANC-1	pancreas:	n/a	chr4:74606147-74606156
3	TCF7L2	chr4:74605526-74606377	HEK293	kidney:	n/a	chr4:74606147-74606156
4	TCF7L2	chr4:74605176-74606571	HCT-116	colon:	n/a	chr4:74606147-74606156
5	TCF7L2	chr4:74605383-74606581	Hela-S3	cervix:	n/a	chr4:74606147-74606156
6	JUN	chr4:74605461-74606586	K562	blood:	n/a	chr4:74606147-74606157 chr4:74606148-74606155 chr4:74606148-74606156 chr4:74606148-74606156
7	GATA2	chr4:74605387-74606630	HUVEC	blood vessel:	n/a	n/a
8	ARID3A	chr4:74605518-74606658	K562	blood:	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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10033377	1.00[EUR][1000 genomes]
rs16849925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16849934	0.82[ASW][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1951237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227525	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28544060	1.00[EUR][1000 genomes]
rs28560265	1.00[EUR][1000 genomes]
rs28707294	1.00[EUR][1000 genomes]
rs28879705	1.00[EUR][1000 genomes]
rs55648028	1.00[EUR][1000 genomes]
rs57818652	0.86[AFR][1000 genomes]
rs59569175	1.00[EUR][1000 genomes]
rs59914288	0.86[AFR][1000 genomes]
rs6840833	1.00[EUR][1000 genomes]
rs6847987	1.00[EUR][1000 genomes]
rs6853880	1.00[EUR][1000 genomes]
rs73827899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73827900	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657469	1.00[EUR][1000 genomes]
rs7668660	1.00[EUR][1000 genomes]
rs7673632	1.00[EUR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74596400-74606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:74600400-74606200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:74600600-74606200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:74600800-74605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:74600800-74606200	Weak transcription	HMEC	breast
6	chr4:74601400-74605600	Weak transcription	NHEK	skin
7	chr4:74601400-74606000	Weak transcription	Osteobl	bone
8	chr4:74601600-74605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:74604400-74606000	Enhancers	K562	blood
10	chr4:74604800-74605800	Enhancers	HUVEC	blood vessel
11	chr4:74604800-74606200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:74604800-74606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:74605000-74606200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:74605000-74606200	Enhancers	Hela-S3	cervix
15	chr4:74605200-74605800	Enhancers	NHLF	lung
16	chr4:74605200-74606200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:74605200-74606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:74605400-74605600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:74605400-74605600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:74605400-74605600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:74605400-74605600	Enhancers	Small Intestine	intestine
22	chr4:74605400-74606200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:74605400-74606200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:74605400-74606200	Weak transcription	Left Ventricle	heart
25	chr4:74605400-74606200	Enhancers	A549	lung
26	chr4:74605400-74606200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:74605400-74606400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:74605400-74606600	Enhancers	Adipose Nuclei	Adipose
29	chr4:74605400-74606800	Enhancers	NH-A	brain
30	chr4:74605400-74607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:74605400-74607400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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