Variant report

Variant	rs7607943
Chromosome Location	chr2:30956721-30956722
allele	G/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	RAD21	chr2:30956715-30957030	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:30956376-30957592	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30952814..30954771-chr2:30956353..30958327,2	MCF-7	breast:

Variant related genes	Relation type
CAPN13	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11887038	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010034	0.85[EUR][1000 genomes]
rs1879277	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879278	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879279	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60218907	0.92[EUR][1000 genomes]
rs60432407	0.92[EUR][1000 genomes]
rs66649138	0.85[EUR][1000 genomes]
rs6733139	1.00[CEU][hapmap]
rs67680703	0.85[EUR][1000 genomes]
rs67748367	0.85[EUR][1000 genomes]
rs68014179	0.85[EUR][1000 genomes]
rs68064015	0.92[EUR][1000 genomes]
rs72613838	0.85[EUR][1000 genomes]
rs72613840	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72613841	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72613842	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72613843	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72613844	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613845	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613846	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613847	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613848	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613849	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613850	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613851	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613852	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613853	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613854	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613855	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613856	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613857	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613858	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613859	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613860	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613861	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613862	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72865470	0.85[EUR][1000 genomes]
rs7578066	1.00[CEU][hapmap]
rs7580416	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv873770	chr2:30952987-30984850	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30953600-30965200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:30954000-30965400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:30955400-30957200	Enhancers	Fetal Intestine Small	intestine
5	chr2:30955400-30959400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30956000-30964000	Weak transcription	Gastric	stomach
7	chr2:30956400-30957000	Enhancers	Fetal Intestine Large	intestine

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