Variant report

Variant	rs2384684
Chromosome Location	chr19:55930504-55930505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55917828..55920239-chr19:55927961..55932022,5	MCF-7	breast:
2	chr19:55727051..55730795-chr19:55928182..55931748,3	K562	blood:
3	chr19:55923277..55927988-chr19:55928372..55932935,4	K562	blood:

Variant related genes	Relation type
ENSG00000267649	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10412033	0.81[CHD][hapmap]
rs11668893	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1457109	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531215	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075908	0.84[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4133107	0.86[JPT][hapmap]
rs4801608	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72489180	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7249831	0.81[CHD][hapmap]
rs8107913	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[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	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	196 gene(s)	inside rSNPs	diseases
5	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55929000-55930800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:55929000-55933800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:55929000-55934400	Enhancers	Thymus	Thymus
4	chr19:55929200-55933800	Enhancers	Fetal Thymus	thymus
5	chr19:55929400-55930800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:55929400-55931400	Enhancers	Brain Cingulate Gyrus	brain
7	chr19:55929400-55931800	Enhancers	Brain Hippocampus Middle	brain
8	chr19:55929400-55933800	Enhancers	Primary T cells from cord blood	blood
9	chr19:55929600-55930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:55929800-55930800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:55929800-55931200	Weak transcription	Dnd41	blood
12	chr19:55929800-55931800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr19:55929800-55932000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:55930000-55931000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:55930000-55931200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:55930000-55931600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:55930000-55931600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:55930000-55931600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:55930000-55931800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:55930000-55934800	Weak transcription	Brain Angular Gyrus	brain
21	chr19:55930000-55934800	Weak transcription	Brain Anterior Caudate	brain
22	chr19:55930200-55935000	Weak transcription	Brain Substantia Nigra	brain
23	chr19:55930400-55930800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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