Variant report

Variant	rs55674594
Chromosome Location	chr1:212435313-212435314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212433580..212437066-chr1:212438671..212444004,6	K562	blood:
2	chr1:212434393..212437066-chr1:212439092..212441986,2	K562	blood:
3	chr1:212406214..212407731-chr1:212435193..212437929,2	K562	blood:
4	chr1:212433329..212435940-chr1:212436148..212437997,2	K562	blood:
5	chr1:212432994..212436361-chr1:212456253..212459634,4	K562	blood:
6	chr1:212428875..212432292-chr1:212434801..212437724,6	K562	blood:
7	chr1:211770787..211772402-chr1:212434054..212436587,2	K562	blood:
8	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
9	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17018866	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58972361	0.81[AMR][1000 genomes]
rs59357314	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59988047	0.82[AMR][1000 genomes]
rs60325320	0.81[AMR][1000 genomes]
rs6676652	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr1:212429400-212435600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:212430400-212435600	Enhancers	HepG2	liver
3	chr1:212433200-212435600	Enhancers	HMEC	breast
4	chr1:212433600-212435400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:212433600-212435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:212433800-212435600	Enhancers	Hela-S3	cervix
7	chr1:212434000-212435400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:212434000-212435400	Enhancers	Stomach Mucosa	stomach
9	chr1:212434000-212435600	Enhancers	Fetal Intestine Small	intestine
10	chr1:212434000-212435800	Enhancers	Fetal Intestine Large	intestine
11	chr1:212434000-212435800	Enhancers	K562	blood
12	chr1:212434200-212435600	Enhancers	Primary T cells from cord blood	blood
13	chr1:212434400-212435400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:212434400-212435600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:212434400-212436000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:212435000-212435400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:212435000-212435600	Enhancers	NHEK	skin
18	chr1:212435200-212445600	Weak transcription	Right Atrium	heart

Quick Search:

Input of quick search could be:

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

what's new

Quick links