Variant report

Variant	rs62110430
Chromosome Location	chr19:37943769-37943770
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37940909..37945428-chr19:37956901..37961014,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171827	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10403307	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1236810	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1465434	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256737	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256739	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256742	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256743	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2617789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45483504	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110388	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110389	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110390	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110392	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62110395	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7251097	0.94[EUR][1000 genomes]
rs73027379	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73027386	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108650	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8109709	0.95[EUR][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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
2	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37911200-37954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37936000-37944800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:37938000-37956000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37938200-37956200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37938600-37951800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:37940800-37954200	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:37940800-37956800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:37941000-37950200	ZNF genes & repeats	Colon Smooth Muscle	Colon
11	chr19:37941000-37952200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr19:37941400-37947400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:37942200-37946200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:37942200-37949200	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr19:37942400-37947000	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr19:37942400-37947400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr19:37942400-37954400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr19:37942400-37954600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:37942400-37956000	ZNF genes & repeats	Fetal Lung	lung
20	chr19:37942400-37956200	ZNF genes & repeats	Fetal Brain Female	brain
21	chr19:37942400-37957200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:37942600-37946000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr19:37942600-37946800	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr19:37942600-37946800	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr19:37942600-37946800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr19:37942600-37947400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr19:37942600-37947600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:37942600-37947600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr19:37942600-37953800	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:37942600-37956000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:37942600-37956600	ZNF genes & repeats	Dnd41	blood
32	chr19:37942800-37944000	Weak transcription	Left Ventricle	heart
33	chr19:37943400-37945600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
34	chr19:37943400-37946800	ZNF genes & repeats	HSMM	muscle
35	chr19:37943400-37947600	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr19:37943400-37950600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr19:37943600-37945600	ZNF genes & repeats	Right Atrium	heart
38	chr19:37943600-37946600	ZNF genes & repeats	Fetal Brain Male	brain
39	chr19:37943600-37947400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
40	chr19:37943600-37948400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr19:37943600-37948400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:37943600-37953200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr19:37943600-37954000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:37943600-37956800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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