Variant report

Variant	rs922521
Chromosome Location	chr4:8207810-8207811
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	SPI1	chr4:8207722-8208234	GM12891	blood:	n/a	chr4:8207979-8207992 chr4:8207981-8207990 chr4:8207978-8207991
2	SPI1	chr4:8207717-8208122	GM12878	blood:	n/a	chr4:8207979-8207992 chr4:8207981-8207990 chr4:8207978-8207991
3	MTA3	chr4:8207528-8208240	GM12878	blood:	n/a	n/a
4	FOS	chr4:8207773-8208174	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr4:8207603-8208282	GM12878	blood:	n/a	chr4:8207979-8207992 chr4:8207981-8207990 chr4:8207978-8207991
6	RUNX3	chr4:8207775-8208125	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:8207077-8208103	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:8207474-8208237	GM12878	blood:	n/a	n/a
9	NRF1	chr4:8207772-8207894	GM12878	blood:	n/a	n/a
10	MYC	chr4:8207624-8208300	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:8207783-8208361	GM12878	blood:	n/a	n/a
12	EBF1	chr4:8207785-8208132	GM12878	blood:	n/a	n/a
13	SPI1	chr4:8207770-8208251	HL-60	blood:	n/a	chr4:8207979-8207992 chr4:8207981-8207990 chr4:8207978-8207991
14	POLR2A	chr4:8207553-8208353	HL-60	blood:	n/a	n/a
15	MYC	chr4:8207705-8208257	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:8207794-8207851	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr4:8207795-8208208	NB4	blood:	n/a	n/a
18	SPI1	chr4:8207578-8208247	HL-60	blood:	n/a	chr4:8207979-8207992 chr4:8207981-8207990 chr4:8207978-8207991
19	RUNX3	chr4:8207778-8208083	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:8207709-8208141	GM12878	blood:	n/a	n/a
21	MAX	chr4:8207775-8208228	NB4	blood:	n/a	n/a
22	POLR2A	chr4:8207792-8208431	GM12878	blood:	n/a	n/a
23	EBF1	chr4:8207492-8208152	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8201150..8205648-chr4:8206751..8210488,5	MCF-7	breast:
2	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
3	chr4:8205263..8208734-chr4:8209545..8212035,3	MCF-7	breast:
4	chr4:8202798..8206403-chr4:8207013..8209683,3	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1281130	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1281131	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1298878	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678263	0.84[CEU][hapmap]
rs1678269	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677605	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs922521	WDR1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8203000-8216200	Weak transcription	Osteobl	bone
2	chr4:8203000-8216400	Weak transcription	Hela-S3	cervix
3	chr4:8203200-8208800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:8203200-8222400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8203400-8210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8203400-8216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:8203400-8216600	Weak transcription	Right Atrium	heart
8	chr4:8203600-8208400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:8203600-8208400	Genic enhancers	Spleen	Spleen
10	chr4:8203600-8211200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:8203600-8216600	Weak transcription	Left Ventricle	heart
12	chr4:8203800-8216600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8203800-8216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:8203800-8224800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:8204000-8208400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:8204000-8209200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:8204000-8216600	Weak transcription	Brain Anterior Caudate	brain
18	chr4:8204200-8212200	Weak transcription	Fetal Kidney	kidney
19	chr4:8204200-8216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:8204400-8208000	Genic enhancers	HUVEC	blood vessel
21	chr4:8204600-8208000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:8204600-8218800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:8204800-8208400	Genic enhancers	Placenta	Placenta
24	chr4:8204800-8209200	Weak transcription	Primary T cells from cord blood	blood
25	chr4:8204800-8222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:8205000-8210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:8205000-8211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:8205000-8219200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:8205200-8208000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:8205200-8209000	Enhancers	Dnd41	blood
31	chr4:8205200-8212400	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:8205200-8219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:8205400-8208200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:8205400-8208200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:8205400-8209000	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:8205600-8208200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:8205800-8212000	Strong transcription	Fetal Stomach	stomach
38	chr4:8206000-8208000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:8206000-8208000	Strong transcription	NHLF	lung
40	chr4:8206000-8208600	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr4:8206200-8210400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8206400-8208000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:8206400-8208200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:8206400-8208400	Genic enhancers	Gastric	stomach
45	chr4:8206400-8209400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:8206400-8214200	Genic enhancers	Fetal Thymus	thymus
47	chr4:8206600-8209000	Weak transcription	HepG2	liver
48	chr4:8206800-8208000	Enhancers	Stomach Mucosa	stomach
49	chr4:8206800-8208400	Genic enhancers	Esophagus	oesophagus
50	chr4:8206800-8209200	Weak transcription	Adipose Nuclei	Adipose

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