Variant report

Variant	rs547641573
Chromosome Location	chr5:90624924-90624925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:
2	chr5:90622949..90625056-chr5:90677857..90679858,2	MCF-7	breast:
3	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
4	chr5:90623090..90625952-chr5:90626730..90629321,3	K562	blood:
5	chr5:90604449..90606524-chr5:90624029..90625529,2	K562	blood:
6	chr5:90622849..90631493-chr5:90673648..90681743,16	K562	blood:

Variant related genes	Relation type
ENSG00000113369	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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	esv3521695	chr5:90623146-90627244	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3521693	chr5:90623296-90627194	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1807046	chr5:90623586-90625782	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1807398	chr5:90623586-90625782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1808026	chr5:90623586-90625782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1813756	chr5:90623586-90625782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1810842	chr5:90623586-90626344	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1814682	chr5:90623586-90626344	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3470554	chr5:90624079-90626333	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3521692	chr5:90624134-90626265	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3521694	chr5:90624147-90626235	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3521691	chr5:90624184-90626234	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3521697	chr5:90624184-90626234	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3470555	chr5:90624229-90626177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1805577	chr5:90624283-90625782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1808771	chr5:90624283-90625782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1809806	chr5:90624283-90626344	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv15538	chr5:90624301-90625878	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:90620400-90627600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:90621200-90625000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:90621800-90627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:90621800-90634600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:90623200-90627800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:90624400-90625200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:90624400-90625400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:90624400-90625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:90624400-90625600	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:90624600-90625000	Flanking Active TSS	A549	lung
12	chr5:90624600-90625200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:90624600-90625200	Enhancers	Fetal Kidney	kidney
14	chr5:90624600-90625400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:90624600-90625400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:90624600-90625400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:90624600-90625400	Enhancers	HepG2	liver
18	chr5:90624600-90625600	Enhancers	Colon Smooth Muscle	Colon
19	chr5:90624600-90625600	Enhancers	K562	blood
20	chr5:90624600-90625800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:90624600-90626200	Enhancers	Fetal Thymus	thymus
22	chr5:90624800-90625400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:90624800-90625600	Enhancers	Fetal Stomach	stomach
24	chr5:90624800-90625800	Enhancers	Dnd41	blood

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