Variant report

Variant	rs574987996
Chromosome Location	chr7:39597539-39597540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39595139..39597686-chr7:39605135..39607425,2	K562	blood:
2	chr7:39597430..39600567-chr7:39603197..39606224,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227172	Chromatin interaction
ENSG00000241127	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2448116	chr7:39596535-39597987	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv981457	chr7:39596866-39600463	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2417144	chr7:39597192-39597694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2004805	chr7:39597203-39597839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3475998	chr7:39597239-39597746	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3497560	chr7:39597269-39597747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3497564	chr7:39597276-39597719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3497565	chr7:39597284-39597705	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3475995	chr7:39597295-39597712	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3476000	chr7:39597304-39597707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3475996	chr7:39597305-39597687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3497561	chr7:39597315-39597688	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3475999	chr7:39597360-39597643	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3497562	chr7:39597370-39597642	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3476001	chr7:39597374-39597640	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3497566	chr7:39597374-39597640	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39594800-39600000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:39595000-39600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:39596400-39597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:39596800-39597800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39596800-39598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:39597200-39597600	Weak transcription	HSMMtube	muscle
7	chr7:39597200-39605200	Weak transcription	Fetal Brain Male	brain

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