Variant report

Variant	rs2912434
Chromosome Location	chr19:37007086-37007087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37005971..37007984-chr19:37017975..37020429,2	MCF-7	breast:
2	chr19:37005079..37007433-chr19:37008961..37011612,3	K562	blood:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2052730	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912422	0.80[ASN][1000 genomes]
rs2912424	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2912426	0.82[ASN][1000 genomes]
rs2912428	0.84[ASN][1000 genomes]
rs2912431	0.84[ASN][1000 genomes]
rs2912436	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912437	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912438	0.82[ASN][1000 genomes]
rs2912445	0.91[EUR][1000 genomes]
rs2945946	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945960	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945965	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2945966	0.82[ASN][1000 genomes]
rs2945967	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2945968	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945970	0.85[ASN][1000 genomes]
rs2945974	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945977	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945979	0.87[ASN][1000 genomes]
rs2945982	0.81[ASN][1000 genomes]
rs2945987	0.81[ASN][1000 genomes]
rs2945988	0.88[ASN][1000 genomes]
rs2967434	0.81[ASN][1000 genomes]
rs2967435	0.91[EUR][1000 genomes]
rs2967441	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967448	0.85[ASN][1000 genomes]
rs2967449	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967450	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967451	0.88[ASN][1000 genomes]
rs2967452	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967456	0.82[ASN][1000 genomes]
rs2967457	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2967462	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2967471	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967474	0.82[ASN][1000 genomes]
rs2967505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967544	0.82[ASN][1000 genomes]
rs3107238	0.82[ASN][1000 genomes]
rs3111554	0.88[ASN][1000 genomes]
rs4561584	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36999200-37014400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:36999200-37018000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:36999800-37017400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:37000000-37011600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:37000000-37016400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37000000-37017000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37000000-37017800	ZNF genes & repeats	Liver	Liver
8	chr19:37001000-37018000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37001400-37010400	ZNF genes & repeats	Fetal Brain Male	brain
10	chr19:37001400-37010600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:37001400-37017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:37001600-37016400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr19:37001600-37018200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:37002400-37009400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:37002400-37010400	ZNF genes & repeats	Brain Hippocampus Middle	brain
16	chr19:37002400-37014000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:37002400-37014200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:37002600-37008200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:37002600-37010000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:37002600-37012400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:37002600-37018000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:37002800-37016400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:37002800-37016800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr19:37003200-37008800	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr19:37003200-37014400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr19:37003200-37014400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:37003200-37016800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:37003200-37017000	ZNF genes & repeats	Fetal Lung	lung
29	chr19:37003200-37018000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr19:37003400-37008800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr19:37003400-37010400	ZNF genes & repeats	Fetal Kidney	kidney
32	chr19:37003400-37016800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr19:37003400-37017000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr19:37003400-37017200	ZNF genes & repeats	Dnd41	blood
35	chr19:37003400-37017400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:37003600-37008800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
37	chr19:37003600-37009000	ZNF genes & repeats	HSMM	muscle
38	chr19:37003600-37010200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr19:37003600-37010200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr19:37003600-37010400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr19:37003600-37010400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
42	chr19:37003600-37012200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr19:37003600-37012600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:37003600-37014400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:37003800-37008800	ZNF genes & repeats	NH-A	brain
46	chr19:37003800-37017000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr19:37003800-37018200	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr19:37003800-37018600	ZNF genes & repeats	A549	lung
49	chr19:37004000-37010200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr19:37004200-37010600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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