Variant report

Variant	rs73121839
Chromosome Location	chr1:224543707-224543708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr1:224543347-224545745	Hela-S3	cervix:	n/a	n/a
2	SREBP1	chr1:224543489-224545007	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224528975..224532338-chr1:224541098..224544452,3	K562	blood:
2	chr1:224516510..224520785-chr1:224542312..224545237,4	MCF-7	breast:
3	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
4	chr1:224537550..224539289-chr1:224541937..224544378,2	K562	blood:
5	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
CNIH4	TF binding region
ENSG00000143786	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000162923	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58076906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61424101	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61546171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118068	1.00[AMR][1000 genomes]
rs73118072	1.00[AMR][1000 genomes]
rs73118087	1.00[AMR][1000 genomes]
rs73118092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121851	1.00[AMR][1000 genomes]
rs73127512	1.00[AMR][1000 genomes]
rs73131619	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	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:18 , 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	chr1:224542400-224544200	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:224542400-224544400	Weak transcription	Primary T cells from cord blood	blood
14	chr1:224543000-224544600	Enhancers	Small Intestine	intestine
15	chr1:224543200-224544200	Weak transcription	HepG2	liver
16	chr1:224543200-224544200	Weak transcription	K562	blood
17	chr1:224543400-224543800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:224543600-224543800	Enhancers	Colonic Mucosa	Colon

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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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