Variant report

Variant	rs56312603
Chromosome Location	chr19:35787418-35787419
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35759682..35761822-chr19:35786505..35788212,2	K562	blood:
2	chr19:35786171..35788602-chr19:35798806..35801714,2	MCF-7	breast:
3	chr19:35775409..35778067-chr19:35786470..35789278,2	K562	blood:
4	chr19:35739731..35741456-chr19:35787109..35788672,2	K562	blood:
5	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000105698	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55976703	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6510476	0.85[EUR][1000 genomes]
rs73031716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73031728	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	esv3399211	chr19:35786312-35791010	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
10	esv3329030	chr19:35786312-35791110	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
11	esv3379757	chr19:35786412-35791110	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
12	esv3447618	chr19:35786412-35791110	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
13	esv3452034	chr19:35786812-35790910	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35784000-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:35784800-35789600	Enhancers	Primary hematopoietic stem cells	blood
4	chr19:35785200-35788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:35785200-35788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:35785200-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:35785400-35788200	Weak transcription	Brain Anterior Caudate	brain
8	chr19:35785600-35788400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:35785800-35788600	Enhancers	Primary B cells from cord blood	blood
10	chr19:35785800-35789600	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:35786200-35788400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:35786400-35787800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:35786400-35787800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:35786400-35788400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:35786400-35788600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:35786400-35788600	Enhancers	GM12878-XiMat	blood
17	chr19:35786600-35788200	Weak transcription	Brain Angular Gyrus	brain
18	chr19:35786600-35788200	Enhancers	K562	blood
19	chr19:35786800-35787800	Enhancers	Fetal Thymus	thymus
20	chr19:35786800-35789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:35787000-35787600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:35787000-35787600	Weak transcription	Fetal Lung	lung
23	chr19:35787000-35788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:35787000-35788200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:35787200-35787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:35787200-35787600	Weak transcription	Brain Substantia Nigra	brain
27	chr19:35787200-35787800	Bivalent Enhancer	HepG2	liver
28	chr19:35787200-35788000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:35787200-35788200	Weak transcription	Spleen	Spleen
30	chr19:35787200-35788600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:35787200-35789000	Strong transcription	Brain Hippocampus Middle	brain
32	chr19:35787200-35789200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr19:35787200-35790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:35787200-35790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:35787400-35788600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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