Variant report

Variant	rs73729490
Chromosome Location	chr7:137846392-137846393
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	CTCF	chr7:137846320-137846470	GM12875	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
2	YY1	chr7:137846338-137846599	A549	lung:	n/a	chr7:137846504-137846523 chr7:137846505-137846517 chr7:137846509-137846517 chr7:137846503-137846523 chr7:137846506-137846516
3	FOS	chr7:137846346-137846575	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr7:137846320-137846470	GM12872	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
5	CTCF	chr7:137846380-137846530	GM12868	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
6	RAD21	chr7:137846197-137846802	MCF-7	breast:	n/a	chr7:137846432-137846441
7	JUND	chr7:137846301-137846654	K562	blood:	n/a	n/a
8	CTCF	chr7:137846295-137846595	Hela-S3	cervix:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
9	CTCF	chr7:137846331-137846569	NHEK	skin:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
10	CTCF	chr7:137846291-137846607	K562	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
11	FOXA1	chr7:137846329-137846612	T-47D	breast:	n/a	n/a
12	RAD21	chr7:137846270-137846674	K562	blood:	n/a	chr7:137846432-137846441
13	CTCF	chr7:137846304-137846569	K562	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
14	RAD21	chr7:137846279-137846625	A549	lung:	n/a	chr7:137846432-137846441
15	CTCF	chr7:137846290-137846645	Spleen_OC	spleen:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
16	ZNF143	chr7:137846260-137846686	GM12878	blood:	n/a	n/a
17	CTCF	chr7:137846360-137846510	GM12878	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
18	CTCF	chr7:137846340-137846490	HA-sp	spinal cord:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
19	CTCF	chr7:137846360-137846510	HMEC	breast:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
20	RAD21	chr7:137846074-137846905	HepG2	liver:	n/a	chr7:137846432-137846441
21	CTCF	chr7:137846321-137846574	MCF-7	breast:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
22	CTCF	chr7:137846340-137846490	BJ	skin:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
23	CTCF	chr7:137846314-137846566	GM10266	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
24	YY1	chr7:137846249-137846786	H1-hESC	embryonic stem cell:	n/a	chr7:137846504-137846523 chr7:137846505-137846517 chr7:137846509-137846517 chr7:137846503-137846523 chr7:137846506-137846516
25	RAD21	chr7:137846052-137846915	MCF-7	breast:	n/a	chr7:137846432-137846441
26	CTCF	chr7:137846320-137846470	AG09319	gingival:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
27	YY1	chr7:137846253-137846628	K562	blood:	n/a	chr7:137846504-137846523 chr7:137846505-137846517 chr7:137846509-137846517 chr7:137846503-137846523 chr7:137846506-137846516
28	CTCF	chr7:137846291-137846601	MCF-7	breast:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
29	CTCF	chr7:137846360-137846510	AoAF	blood vessel:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
30	CTCF	chr7:137846306-137846569	LNCaP	prostate:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
31	CTCF	chr7:137846320-137846470	A549	lung:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
32	MAZ	chr7:137846280-137846774	K562	blood:	n/a	chr7:137846470-137846479 chr7:137846474-137846483
33	CTCF	chr7:137846287-137846522	T-47D	breast:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
34	CTCF	chr7:137846340-137846490	RPTEC	kidney:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
35	CTCF	chr7:137846380-137846530	AG04449	skin:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
36	CTCF	chr7:137846216-137846883	GM12878	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
37	RCOR1	chr7:137846294-137846650	HepG2	liver:	n/a	n/a
38	CTCF	chr7:137846320-137846470	HA-sp	spinal cord:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
39	CTCF	chr7:137846266-137846566	HepG2	liver:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
40	CTCF	chr7:137846330-137846517	GM13976	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
41	EBF1	chr7:137846340-137846557	GM12878	blood:	n/a	n/a
42	JUND	chr7:137846322-137846624	A549	lung:	n/a	n/a
43	CTCF	chr7:137846299-137846558	GM13977	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
44	CTCF	chr7:137846296-137846586	MCF-7	breast:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
45	CTCF	chr7:137846360-137846510	Hela-S3	cervix:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
46	RAD21	chr7:137846111-137846832	HCT-116	colon:	n/a	chr7:137846432-137846441
47	CTCF	chr7:137846192-137846697	K562	blood:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
48	CTCF	chr7:137846360-137846510	HCPEpiC	choroid plexus:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
49	CTCF	chr7:137846340-137846490	BE2_C	brain:	n/a	chr7:137846435-137846445 chr7:137846431-137846447
50	RAD21	chr7:137846189-137846884	H1-hESC	embryonic stem cell:	n/a	chr7:137846432-137846441

No.	Distal block	Cell Line	Cell type
1	chr7:137845964..137846544-chr7:138410692..138411250,3	K562	blood:
2	chr7:137843474..137846683-chr7:138143795..138145728,3	K562	blood:
3	chr7:137845735..137846635-chr7:138201766..138202517,3	MCF-7	breast:
4	chr7:137846378..137846934-chr7:138144707..138145358,2	MCF-7	breast:
5	chr7:137845962..137846888-chr7:138422836..138424129,6	K562	blood:
6	chr7:137588282..137589029-chr7:137845978..137846860,2	K562	blood:

Variant related genes	Relation type
ENSG00000225559	TF binding region
ENSG00000122779	Chromatin interaction

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

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

rs_ID	r²[population]
rs10243620	1.00[AMR][1000 genomes]
rs28484772	1.00[AMR][1000 genomes]
rs73729462	1.00[AMR][1000 genomes]
rs73732233	1.00[AMR][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	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv608471	chr7:137808839-137847598	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137843200-137849000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:137844200-137849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:137846000-137846400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:137846000-137846600	Enhancers	A549	lung
5	chr7:137846000-137847000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:137846000-137847400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:137846000-137847400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:137846000-137847600	Enhancers	HepG2	liver
9	chr7:137846200-137846400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr7:137846200-137846400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:137846200-137846400	Enhancers	Brain Substantia Nigra	brain
12	chr7:137846200-137846400	Flanking Active TSS	Fetal Brain Male	brain
13	chr7:137846200-137846600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:137846200-137846600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:137846200-137847000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:137846200-137847000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:137846200-137847000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:137846200-137847000	Enhancers	Liver	Liver
19	chr7:137846200-137847000	Enhancers	NH-A	brain
20	chr7:137846200-137847400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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