Variant report

Variant	rs62445891
Chromosome Location	chr7:21927656-21927657
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	POLR2A	chr7:21927517-21927931	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
DNAH11	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11976832	0.84[EUR][1000 genomes]
rs17145802	0.84[EUR][1000 genomes]
rs62445889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62445892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445899	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67401326	0.84[EUR][1000 genomes]
rs73279872	0.84[EUR][1000 genomes]
rs7778522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21907400-21937200	Weak transcription	Fetal Thymus	thymus
2	chr7:21908400-21936600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:21910000-21939400	Weak transcription	Left Ventricle	heart
4	chr7:21911200-21938400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:21916400-21933800	Weak transcription	Thymus	Thymus
6	chr7:21916800-21935000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:21916800-21936600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:21917000-21936600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:21917000-21938400	Weak transcription	Fetal Intestine Small	intestine
10	chr7:21923000-21937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:21923200-21938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21924000-21937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:21924400-21937800	Weak transcription	NHEK	skin
14	chr7:21924400-21945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:21924800-21936400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:21925000-21928200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:21925400-21928000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:21925400-21928200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:21925600-21928000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:21926000-21927800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:21926400-21932200	Weak transcription	Fetal Heart	heart
22	chr7:21926400-21937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:21926600-21928000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:21926600-21942600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:21926800-21930800	Weak transcription	Fetal Stomach	stomach
26	chr7:21926800-21933800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:21926800-21937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:21926800-21938000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:21926800-21939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:21927000-21928800	Weak transcription	Fetal Lung	lung
31	chr7:21927200-21927800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:21927400-21927800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:21927400-21927800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:21927400-21927800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:21927400-21928000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:21927400-21928000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:21927600-21927800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:21927600-21927800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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