Variant report

Variant	rs56850465
Chromosome Location	chr6:24932844-24932845
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	chr6:24930706..24933107-chr6:24936123..24938054,3	K562	blood:
2	chr6:24928799..24930650-chr6:24931112..24934002,2	K562	blood:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13199679	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13202601	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13212828	0.81[AFR][1000 genomes]
rs13218285	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503369	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35129954	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35398163	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71555170	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71555172	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73731449	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73731451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24926800-24934400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
2	chr6:24927200-24933600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
3	chr6:24927800-24933200	Enhancers	HSMM	muscle
4	chr6:24927800-24934400	Enhancers	HSMMtube	muscle
5	chr6:24928000-24933400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:24928000-24934200	Enhancers	Fetal Lung	lung
7	chr6:24928200-24933000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:24928400-24933000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:24928400-24933400	Enhancers	Fetal Heart	heart
10	chr6:24928800-24933400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
11	chr6:24929000-24935200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
12	chr6:24929400-24933000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:24929400-24934200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr6:24929600-24936000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:24930200-24933000	Enhancers	Colon Smooth Muscle	Colon
16	chr6:24930200-24933200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:24930200-24934400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:24930200-24935600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:24930400-24933000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:24930400-24934600	Enhancers	Hela-S3	cervix
21	chr6:24930600-24933000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:24930600-24933800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:24930600-24935600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:24930800-24934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:24930800-24934000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:24930800-24934400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:24930800-24938200	Weak transcription	Right Atrium	heart
28	chr6:24931000-24933200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:24931000-24933600	Weak transcription	Spleen	Spleen
30	chr6:24931000-24933800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:24931000-24936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:24931000-24936800	Weak transcription	Gastric	stomach
33	chr6:24931000-24937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:24931200-24934000	Weak transcription	NHLF	lung
35	chr6:24931200-24937200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:24931400-24933000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:24931400-24933000	Enhancers	Brain Germinal Matrix	brain
38	chr6:24931400-24933800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:24931600-24934200	Flanking Active TSS	Dnd41	blood
40	chr6:24931800-24936400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:24932000-24933000	Enhancers	HUVEC	blood vessel
42	chr6:24932200-24933200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:24932200-24933400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr6:24932200-24935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:24932200-24935800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:24932200-24935800	Weak transcription	Adipose Nuclei	Adipose
47	chr6:24932400-24933000	Active TSS	Fetal Thymus	thymus
48	chr6:24932400-24933000	Active TSS	Thymus	Thymus
49	chr6:24932400-24933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:24932400-24933600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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