Variant report

Variant	rs7654062
Chromosome Location	chr4:95406444-95406445
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	BHLHE40	chr4:95405914-95407272	K562	blood:	n/a	n/a
2	NR2F2	chr4:95406418-95407302	K562	blood:	n/a	n/a
3	USF1	chr4:95405825-95406450	K562	blood:	n/a	n/a
4	CEBPB	chr4:95406397-95407310	K562	blood:	n/a	chr4:95406401-95406412 chr4:95407083-95407096
5	KAP1	chr4:95406014-95406519	K562	blood:	n/a	n/a
6	IRF1	chr4:95406079-95406462	K562	blood:	n/a	chr4:95406256-95406273 chr4:95406258-95406269 chr4:95406256-95406270 chr4:95406253-95406267 chr4:95406249-95406269 chr4:95406255-95406269 chr4:95406257-95406267
7	ZNF384	chr4:95406178-95407311	K562	blood:	n/a	n/a
8	IRF1	chr4:95406034-95406531	K562	blood:	n/a	chr4:95406256-95406273 chr4:95406258-95406269 chr4:95406256-95406270 chr4:95406253-95406267 chr4:95406249-95406269 chr4:95406255-95406269 chr4:95406257-95406267
9	TEAD4	chr4:95406383-95407335	K562	blood:	n/a	n/a
10	HCFC1	chr4:95405954-95407043	K562	blood:	n/a	n/a
11	CEBPB	chr4:95406271-95407266	K562	blood:	n/a	chr4:95406401-95406412 chr4:95406396-95406413 chr4:95407083-95407096
12	USF1	chr4:95405954-95406550	K562	blood:	n/a	n/a
13	MYC	chr4:95406096-95407230	K562	blood:	n/a	chr4:95406107-95406116 chr4:95406867-95406877 chr4:95407067-95407080 chr4:95407069-95407078 chr4:95406133-95406142 chr4:95406145-95406154 chr4:95406197-95406208

No.	Distal block	Cell Line	Cell type
1	chr4:95380389..95383633-chr4:95406287..95409209,3	K562	blood:
2	chr4:95405668..95407822-chr7:100027413..100029654,2	K562	blood:
3	chr4:95406401..95409166-chr4:95410541..95413681,3	K562	blood:
4	chr4:95360834..95362650-chr4:95405154..95407067,2	K562	blood:
5	chr4:95405697..95407319-chr4:95434708..95437495,2	K562	blood:
6	chr4:95406132..95409041-chr4:95429869..95431483,2	K562	blood:
7	chr4:95404882..95407708-chr4:95454593..95456419,2	K562	blood:
8	chr4:95395769..95400285-chr4:95406149..95409946,5	K562	blood:
9	chr4:95371236..95373798-chr4:95405338..95407482,2	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6813105	0.81[AFR][1000 genomes]
rs6835329	0.81[AFR][1000 genomes]
rs6835988	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[AFR][1000 genomes]
rs6845278	0.86[AFR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95410000	Weak transcription	NHLF	lung
3	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:95394400-95407000	Weak transcription	NH-A	brain
5	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
6	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:95398400-95407600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:95398400-95408800	Weak transcription	Brain Substantia Nigra	brain
12	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
13	chr4:95399000-95409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:95400800-95440000	Weak transcription	Lung	lung
16	chr4:95401800-95408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:95402000-95406800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:95402000-95407000	Weak transcription	Psoas Muscle	Psoas
20	chr4:95402000-95407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:95402000-95407600	Weak transcription	Right Ventricle	heart
22	chr4:95402000-95408600	Weak transcription	Right Atrium	heart
23	chr4:95402000-95409000	Weak transcription	NHDF-Ad	bronchial
24	chr4:95402000-95409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:95402000-95409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
27	chr4:95402200-95412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:95402200-95412200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:95402200-95412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
31	chr4:95403800-95417800	Weak transcription	HepG2	liver
32	chr4:95404000-95406800	Weak transcription	Placenta	Placenta
33	chr4:95404000-95407200	Weak transcription	Stomach Mucosa	stomach
34	chr4:95404000-95408600	Weak transcription	Ovary	ovary
35	chr4:95404000-95409800	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:95404000-95415000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:95404400-95412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:95405000-95406800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:95405000-95408000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:95405000-95408800	Weak transcription	Liver	Liver
41	chr4:95405000-95429000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:95405400-95409000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:95405800-95406600	Flanking Active TSS	K562	blood
44	chr4:95405800-95407800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:95405800-95408000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:95405800-95408000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:95405800-95408000	Enhancers	Hela-S3	cervix
48	chr4:95405800-95409800	Genic enhancers	Osteobl	bone
49	chr4:95406000-95406600	Genic enhancers	Fetal Heart	heart
50	chr4:95406000-95406600	Enhancers	Rectal Smooth Muscle	rectum

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