Variant report

Variant	rs73458948
Chromosome Location	chr7:127987911-127987912
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	chr7:127987710-127987925	GM19240	blood:	n/a	chr7:127987788-127987806
2	RAD21	chr7:127987219-127990357	SK-N-SH	brain:	n/a	chr7:127987789-127987808 chr7:127989182-127989196
3	ARID3A	chr7:127987638-127987939	K562	blood:	n/a	n/a
4	CTCF	chr7:127987673-127987945	Gliobla	brain:	n/a	chr7:127987788-127987806
5	RAD21	chr7:127987618-127988006	HepG2	liver:	n/a	chr7:127987789-127987808
6	CTCF	chr7:127987707-127987935	MCF-7	breast:	n/a	chr7:127987788-127987806
7	RAD21	chr7:127987617-127988019	IMR90	lung:	n/a	chr7:127987789-127987808
8	RAD21	chr7:127987547-127988108	A549	lung:	n/a	chr7:127987789-127987808
9	GTF2F1	chr7:127987705-127987961	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr7:127987800-127987950	HAc	cerebellar:	n/a	n/a
11	RAD21	chr7:127987511-127988136	MCF-7	breast:	n/a	chr7:127987789-127987808
12	CTCF	chr7:127987708-127987943	GM12891	blood:	n/a	chr7:127987788-127987806
13	RAD21	chr7:127987497-127988216	A549	lung:	n/a	chr7:127987789-127987808
14	SMC3	chr7:127987624-127987982	K562	blood:	n/a	chr7:127987790-127987804
15	RAD21	chr7:127987471-127988239	SK-N-SH_RA	brain:	n/a	chr7:127987789-127987808
16	RAD21	chr7:127987620-127988006	H1-hESC	embryonic stem cell:	n/a	chr7:127987789-127987808
17	ZNF143	chr7:127987650-127987959	K562	blood:	n/a	n/a
18	RCOR1	chr7:127987630-127987954	K562	blood:	n/a	n/a
19	CTCF	chr7:127987613-127987939	T-47D	breast:	n/a	chr7:127987788-127987806
20	RAD21	chr7:127987567-127988070	HepG2	liver:	n/a	chr7:127987789-127987808
21	MYC	chr7:127987719-127988071	K562	blood:	n/a	n/a
22	CTCF	chr7:127987668-127987922	HUVEC	blood vessel:	n/a	chr7:127987788-127987806
23	RAD21	chr7:127987636-127988018	GM12878	blood:	n/a	chr7:127987789-127987808
24	RAD21	chr7:127987589-127988186	SK-N-SH_RA	brain:	n/a	chr7:127987789-127987808
25	CTCF	chr7:127987683-127987957	NHEK	skin:	n/a	chr7:127987788-127987806
26	ZNF143	chr7:127987638-127987958	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:127987684-127987954	A549	lung:	n/a	chr7:127987788-127987806
28	CTCF	chr7:127987671-127987938	MCF-7	breast:	n/a	chr7:127987788-127987806
29	CTCF	chr7:127987593-127988014	GM12878	blood:	n/a	chr7:127987788-127987806
30	CTCF	chr7:127987694-127987928	ProgFib	skin:	n/a	chr7:127987788-127987806
31	CTCF	chr7:127987221-127988219	A549	lung:	n/a	chr7:127987788-127987806
32	CTCF	chr7:127987552-127987983	K562	blood:	n/a	chr7:127987788-127987806
33	CTCF	chr7:127987670-127987944	GM12878	blood:	n/a	chr7:127987788-127987806
34	RAD21	chr7:127987454-127988207	MCF-7	breast:	n/a	chr7:127987789-127987808
35	CTCF	chr7:127987692-127987917	HepG2	liver:	n/a	chr7:127987788-127987806
36	MAZ	chr7:127987659-127987950	K562	blood:	n/a	n/a
37	YY1	chr7:127987660-127987976	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr7:127987568-127988110	ECC-1	luminal epithelium:	n/a	chr7:127987789-127987808
39	CTCF	chr7:127987714-127987923	GM19238	blood:	n/a	chr7:127987788-127987806
40	CTCF	chr7:127987479-127988037	MCF-7	breast:	n/a	chr7:127987788-127987806
41	MAFK	chr7:127987708-127987982	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr7:127987504-127988069	MCF-7	breast:	n/a	chr7:127987788-127987806
43	CTCF	chr7:127987678-127987923	K562	blood:	n/a	chr7:127987788-127987806
44	CTCF	chr7:127987533-127988090	HCT-116	colon:	n/a	chr7:127987788-127987806
45	JUND	chr7:127987730-127987939	K562	blood:	n/a	n/a
46	RAD21	chr7:127987380-127988168	HCT-116	colon:	n/a	chr7:127987789-127987808
47	CTCF	chr7:127987672-127987939	Medullo	brain:	n/a	chr7:127987788-127987806
48	RAD21	chr7:127987579-127987964	ECC-1	luminal epithelium:	n/a	chr7:127987789-127987808
49	CTCF	chr7:127987085-127989991	SK-N-SH	brain:	n/a	chr7:127989569-127989577 chr7:127987788-127987806
50	CTCF	chr7:127987724-127987921	GM19239	blood:	n/a	chr7:127987788-127987806

No.	Distal block	Cell Line	Cell type
1	chr7:127986655..127989567-chr7:127989980..127992814,3	K562	blood:
2	chr7:127987466..127988187-chr7:128065959..128066607,2	MCF-7	breast:
3	chr7:127987690..127988242-chr7:128067109..128068066,2	MCF-7	breast:
4	chr7:127987691..127988308-chr7:128065542..128066256,3	MCF-7	breast:
5	chr7:127985563..127989260-chr7:128027649..128030802,6	K562	blood:
6	chr7:127986230..127989260-chr7:128028040..128030111,4	K562	blood:
7	chr7:127987637..127990032-chr7:127996587..127999428,2	MCF-7	breast:
8	chr7:127987587..127989248-chr7:127999103..128001954,2	MCF-7	breast:
9	chr7:127986440..127989411-chr7:128026158..128028647,3	MCF-7	breast:
10	chr7:127986462..127988750-chr7:128027167..128028806,32	MCF-7	breast:
11	chr7:127987745..127988284-chr7:128025488..128026141,2	K562	blood:
12	chr7:127987316..127989019-chr7:128027005..128028396,14	K562	blood:
13	chr7:127987695..127989209-chr7:128025745..128028216,2	MCF-7	breast:
14	chr7:127987333..127988252-chr7:128027402..128028598,10	MCF-7	breast:
15	chr7:127987698..127988606-chr7:128028908..128029761,2	K562	blood:
16	chr7:127987318..127988500-chr7:128065383..128066423,5	K562	blood:

Variant related genes	Relation type
RBM28	TF binding region
ENSG00000224940	Chromatin interaction

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

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

rs_ID	r²[population]
rs17151981	1.00[AMR][1000 genomes]
rs17152005	1.00[AMR][1000 genomes]
rs56177738	1.00[AMR][1000 genomes]
rs60767857	1.00[AMR][1000 genomes]
rs73458949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721356	1.00[AMR][1000 genomes]
rs73721363	1.00[AMR][1000 genomes]
rs73721364	1.00[AMR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127984000-127989400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:127984600-127989200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:127987800-127988000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
4	chr7:127987800-127988000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr7:127987800-127988000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:127987800-127988000	Enhancers	Brain Cingulate Gyrus	brain
7	chr7:127987800-127988200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:127987800-127988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:127987800-127988200	Enhancers	Brain Anterior Caudate	brain
10	chr7:127987800-127988200	Enhancers	Brain Germinal Matrix	brain
11	chr7:127987800-127988200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:127987800-127989200	Enhancers	Fetal Muscle Leg	muscle

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