Variant report

Variant	rs12075578
Chromosome Location	chr1:224543058-224543059
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10495220	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120702	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121977	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12124686	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12128292	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134167	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140423	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684878	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758316	0.89[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224529200-224544000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224536800-224544200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:224536800-224544400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:224536800-224544600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:224538400-224544400	Weak transcription	Right Atrium	heart
6	chr1:224540600-224544400	Enhancers	Fetal Intestine Small	intestine
7	chr1:224540800-224544400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:224540800-224544400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:224540800-224544400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:224541200-224544200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:224541200-224544400	Enhancers	Fetal Intestine Large	intestine
12	chr1:224541600-224543200	Enhancers	HepG2	liver
13	chr1:224541800-224543200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:224542400-224544200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:224542400-224544400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:224543000-224543200	Enhancers	K562	blood
17	chr1:224543000-224544600	Enhancers	Small Intestine	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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