Variant report

Variant	rs73784849
Chromosome Location	chr5:128432323-128432324
allele	A/G
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	CTCF	chr5:128432200-128432350	GM12871	blood:	n/a	n/a
2	MAZ	chr5:128432291-128432579	K562	blood:	n/a	n/a
3	CTCF	chr5:128432180-128432330	GM12864	blood:	n/a	n/a
4	UBTF	chr5:128432186-128432484	K562	blood:	n/a	n/a
5	CTCF	chr5:128432070-128432467	K562	blood:	n/a	n/a
6	POLR2A	chr5:128432162-128432733	HepG2	liver:	n/a	n/a
7	CTCF	chr5:128432200-128432350	GM12865	blood:	n/a	n/a
8	CTCF	chr5:128432180-128432330	HBMEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:128432126-128432341	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:128432226-128432404	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr5:128432077-128432628	K562	blood:	n/a	n/a
12	MYC	chr5:128432167-128432367	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:128432240-128432390	GM12875	blood:	n/a	n/a
14	CTCF	chr5:128432180-128432330	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr5:128432200-128432350	A549	lung:	n/a	n/a
16	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
17	CTCF	chr5:128432220-128432370	HCM	heart:	n/a	n/a
18	EP300	chr5:128432237-128432583	K562	blood:	n/a	chr5:128432478-128432487
19	CTCF	chr5:128432200-128432350	HCPEpiC	choroid plexus:	n/a	n/a
20	ELF1	chr5:128432198-128432587	K562	blood:	n/a	chr5:128432478-128432489
21	CTCF	chr5:128432180-128432330	Caco-2	colon:	n/a	n/a
22	CTCF	chr5:128432180-128432330	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr5:128432180-128432330	HEK293	kidney:	n/a	n/a
24	GATA1	chr5:128432277-128432818	PBDE	blood:	n/a	chr5:128432476-128432486 chr5:128432510-128432517 chr5:128432510-128432517 chr5:128432510-128432517 chr5:128432503-128432524
25	TBL1XR1	chr5:128432166-128432620	K562	blood:	n/a	n/a
26	RAD21	chr5:128432116-128432362	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr5:128432180-128432330	SAEC	small airway:	n/a	n/a
28	ARID3A	chr5:128432166-128432721	K562	blood:	n/a	n/a
29	CTCF	chr5:128432180-128432330	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:128432136-128432324	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:128432200-128432350	HCT-116	colon:	n/a	n/a
32	JUND	chr5:128432195-128432395	H1-hESC	embryonic stem cell:	n/a	n/a
33	CUX1	chr5:128431763-128432424	K562	blood:	n/a	n/a
34	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	chr5:128430676..128433007-chr5:128447278..128450183,2	K562	blood:
3	chr5:128426917..128432397-chr5:128432508..128439991,15	K562	blood:
4	chr5:128430956..128433116-chr5:128435843..128437863,3	MCF-7	breast:

Variant related genes	Relation type
MIR4633	TF binding region
ENSG00000264563	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55931811	0.86[AFR][1000 genomes]
rs61370153	0.86[AFR][1000 genomes]
rs73784861	0.86[AFR][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:110 , 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	chr5:128429800-128432400	Active TSS	Right Ventricle	heart
5	chr5:128430000-128432400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:128430000-128432600	Active TSS	Left Ventricle	heart
7	chr5:128430000-128433800	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:128430200-128432400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr5:128430200-128434600	Active TSS	GM12878-XiMat	blood
10	chr5:128430800-128432400	Flanking Active TSS	Dnd41	blood
11	chr5:128431000-128432400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:128431000-128432400	Flanking Active TSS	HUVEC	blood vessel
13	chr5:128431000-128432600	Flanking Active TSS	Liver	Liver
14	chr5:128431000-128433000	Active TSS	Fetal Heart	heart
15	chr5:128431000-128433400	Active TSS	Right Atrium	heart
16	chr5:128431200-128432400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:128431400-128432400	Enhancers	Fetal Thymus	thymus
19	chr5:128431400-128432600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:128431400-128433200	Weak transcription	Gastric	stomach
21	chr5:128431400-128433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:128431400-128443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:128431400-128457400	Weak transcription	Lung	lung
25	chr5:128431600-128432400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:128431600-128432400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:128431600-128432400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr5:128431600-128432400	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:128431600-128432400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:128431600-128432400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:128431600-128432400	Enhancers	Brain Angular Gyrus	brain
32	chr5:128431600-128432400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:128431600-128432400	Enhancers	Colon Smooth Muscle	Colon
34	chr5:128431600-128432400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:128431600-128432400	Enhancers	HMEC	breast
36	chr5:128431600-128432400	Active TSS	NHLF	lung
37	chr5:128431600-128432600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:128431600-128432600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:128431600-128432600	Enhancers	Fetal Muscle Leg	muscle
40	chr5:128431600-128432800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:128431600-128433000	Weak transcription	Colonic Mucosa	Colon
42	chr5:128431600-128433200	Enhancers	HepG2	liver
43	chr5:128431600-128433400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:128431600-128433400	Weak transcription	Pancreas	Pancrea
45	chr5:128431600-128433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:128431600-128433800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:128431600-128434000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:128431600-128434000	Enhancers	Small Intestine	intestine
49	chr5:128431600-128434200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:128431600-128434200	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links