Variant report

Variant	rs4458134
Chromosome Location	chr19:36489395-36489396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36487925..36490376-chr19:36543868..36546114,2	K562	blood:
2	chr19:36487282..36490058-chr19:36500834..36502670,2	K562	blood:
3	chr19:36484693..36488797-chr19:36489372..36495554,13	MCF-7	breast:
4	chr19:36481222..36488314-chr19:36488613..36493930,8	K562	blood:
5	chr19:36484527..36490376-chr19:36543488..36547183,11	K562	blood:
6	chr19:36434768..36437556-chr19:36487858..36489977,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161277	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000205138	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1043822	0.88[ASN][1000 genomes]
rs10469279	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12460721	0.93[ASN][1000 genomes]
rs12462677	0.89[ASN][1000 genomes]
rs12462868	0.84[ASN][1000 genomes]
rs17720402	0.93[ASN][1000 genomes]
rs2073893	0.91[ASN][1000 genomes]
rs2285423	0.82[ASN][1000 genomes]
rs2285424	0.90[ASN][1000 genomes]
rs4806245	0.96[ASN][1000 genomes]
rs4806247	0.89[ASN][1000 genomes]
rs7256169	0.93[ASN][1000 genomes]
rs7258897	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36487000-36489800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:36487000-36492400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36487000-36493800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:36487200-36490000	Weak transcription	Small Intestine	intestine
5	chr19:36487200-36491600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:36487200-36492000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:36487200-36493600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36487200-36494000	Weak transcription	Aorta	Aorta
9	chr19:36487200-36499000	Weak transcription	Fetal Kidney	kidney
10	chr19:36487200-36499200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36487200-36504200	Weak transcription	HSMMtube	muscle
12	chr19:36487400-36489800	Weak transcription	Fetal Brain Female	brain
13	chr19:36487400-36489800	Weak transcription	NHDF-Ad	bronchial
14	chr19:36487400-36493800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:36487600-36489600	Strong transcription	Fetal Stomach	stomach
16	chr19:36487600-36489800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:36487600-36489800	Weak transcription	Fetal Heart	heart
18	chr19:36487600-36490000	Weak transcription	Psoas Muscle	Psoas
19	chr19:36487600-36490000	Weak transcription	Right Atrium	heart
20	chr19:36487600-36493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:36487600-36494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:36487600-36499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:36487600-36499000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:36487600-36499200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:36487600-36499800	Weak transcription	HUVEC	blood vessel
26	chr19:36487600-36500000	Weak transcription	HSMM	muscle
27	chr19:36487800-36489400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr19:36487800-36489800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:36487800-36489800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:36487800-36489800	Weak transcription	Brain Substantia Nigra	brain
31	chr19:36487800-36489800	Weak transcription	Fetal Thymus	thymus
32	chr19:36487800-36489800	Weak transcription	Right Ventricle	heart
33	chr19:36487800-36489800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:36487800-36490000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:36487800-36490000	Weak transcription	Fetal Brain Male	brain
36	chr19:36487800-36490000	Weak transcription	Ovary	ovary
37	chr19:36487800-36490000	Weak transcription	NHLF	lung
38	chr19:36487800-36490000	Weak transcription	Osteobl	bone
39	chr19:36487800-36491800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:36487800-36491800	Weak transcription	Fetal Lung	lung
41	chr19:36487800-36492000	Weak transcription	Colonic Mucosa	Colon
42	chr19:36487800-36492400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:36487800-36498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:36487800-36498800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:36487800-36499000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:36487800-36499200	Weak transcription	HMEC	breast
47	chr19:36487800-36499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:36487800-36499600	Weak transcription	NHEK	skin
49	chr19:36488000-36489400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:36488000-36489600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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