Variant report

Variant	rs73784850
Chromosome Location	chr5:128432570-128432571
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	MAZ	chr5:128432291-128432579	K562	blood:	n/a	n/a
2	POLR2A	chr5:128432162-128432733	HepG2	liver:	n/a	n/a
3	RCOR1	chr5:128432077-128432628	K562	blood:	n/a	n/a
4	GATA2	chr5:128432007-128432678	HUVEC	blood vessel:	n/a	chr5:128432476-128432486 chr5:128432250-128432258 chr5:128432510-128432517 chr5:128432510-128432517 chr5:128432220-128432227 chr5:128432510-128432517 chr5:128432503-128432524
5	EP300	chr5:128432237-128432583	K562	blood:	n/a	chr5:128432478-128432487
6	ZNF143	chr5:128432507-128432634	K562	blood:	n/a	n/a
7	ELF1	chr5:128432198-128432587	K562	blood:	n/a	chr5:128432478-128432489
8	JUND	chr5:128432346-128432591	K562	blood:	n/a	n/a
9	GATA1	chr5:128432277-128432818	PBDE	blood:	n/a	chr5:128432476-128432486 chr5:128432510-128432517 chr5:128432510-128432517 chr5:128432510-128432517 chr5:128432503-128432524
10	TBL1XR1	chr5:128432166-128432620	K562	blood:	n/a	n/a
11	RFX5	chr5:128432552-128432729	K562	blood:	n/a	n/a
12	ARID3A	chr5:128432166-128432721	K562	blood:	n/a	n/a
13	POLR2A	chr5:128432188-128432765	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:128430725..128432817-chr5:128449870..128452474,3	K562	blood:
2	chr5:128429058..128432172-chr5:128432458..128435695,7	MCF-7	breast:
3	chr5:128426917..128432397-chr5:128432508..128439991,15	K562	blood:
4	chr5:128430676..128433007-chr5:128447278..128450183,2	K562	blood:
5	chr5:128430956..128433116-chr5:128435843..128437863,3	MCF-7	breast:

Variant related genes	Relation type
MIR4633	TF binding region
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17163693	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163696	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163698	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3756749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61190669	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73784863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128429600-128432600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:128429600-128432600	Active TSS	Fetal Muscle Trunk	muscle
3	chr5:128429600-128433400	Active TSS	Fetal Stomach	stomach
4	chr5:128430000-128432600	Active TSS	Left Ventricle	heart
5	chr5:128430000-128433800	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:128430200-128434600	Active TSS	GM12878-XiMat	blood
7	chr5:128431000-128432600	Flanking Active TSS	Liver	Liver
8	chr5:128431000-128433000	Active TSS	Fetal Heart	heart
9	chr5:128431000-128433400	Active TSS	Right Atrium	heart
10	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:128431400-128432600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:128431400-128433200	Weak transcription	Gastric	stomach
13	chr5:128431400-128433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:128431400-128443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:128431400-128457400	Weak transcription	Lung	lung
17	chr5:128431600-128432600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:128431600-128432600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:128431600-128432600	Enhancers	Fetal Muscle Leg	muscle
20	chr5:128431600-128432800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:128431600-128433000	Weak transcription	Colonic Mucosa	Colon
22	chr5:128431600-128433200	Enhancers	HepG2	liver
23	chr5:128431600-128433400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:128431600-128433400	Weak transcription	Pancreas	Pancrea
25	chr5:128431600-128433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:128431600-128433800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:128431600-128434000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:128431600-128434000	Enhancers	Small Intestine	intestine
29	chr5:128431600-128434200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:128431600-128434200	Enhancers	Hela-S3	cervix
31	chr5:128431600-128434400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:128431600-128434400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:128431600-128434600	Weak transcription	NHDF-Ad	bronchial
34	chr5:128431600-128435200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:128431600-128435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:128431600-128435600	Enhancers	Fetal Lung	lung
37	chr5:128431600-128441200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:128431600-128441200	Weak transcription	Fetal Kidney	kidney
39	chr5:128431600-128442000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:128431600-128442000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:128431600-128442600	Weak transcription	Thymus	Thymus
42	chr5:128431600-128444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:128431600-128446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:128431600-128446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
46	chr5:128431600-128450400	Weak transcription	HSMM	muscle
47	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:128431800-128432600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:128431800-128432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:128431800-128432800	Enhancers	Psoas Muscle	Psoas

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