Variant report

Variant	rs1234514
Chromosome Location	chr19:37118689-37118690
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	chr19:37019171..37020688-chr19:37117854..37120209,2	K562	blood:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10414896	0.92[EUR][1000 genomes]
rs17238977	0.90[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2114287	0.99[EUR][1000 genomes]
rs2278168	0.90[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs3096621	0.82[CEU][hapmap]
rs3108176	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108177	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108204	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108216	0.95[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108217	0.87[ASN][1000 genomes]
rs3108556	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108586	0.89[ASN][1000 genomes]
rs3108612	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3170326	0.94[EUR][1000 genomes]
rs3745779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3760826	0.98[EUR][1000 genomes]
rs56319939	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57854762	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61259689	0.94[EUR][1000 genomes]
rs61396420	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61732180	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112474	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112477	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112481	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73034161	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7343133	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8111881	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826984	0.89[ASN][1000 genomes]
rs826985	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37098200-37120400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37102200-37135200	ZNF genes & repeats	Fetal Brain Female	brain
4	chr19:37104400-37125600	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
7	chr19:37107000-37120400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr19:37107000-37120400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:37107000-37125400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:37107000-37134800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37107200-37119800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:37107600-37119600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
14	chr19:37107800-37134600	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr19:37108400-37119800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr19:37109200-37119800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:37109200-37120400	ZNF genes & repeats	Dnd41	blood
18	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:37112400-37120800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr19:37112400-37122200	ZNF genes & repeats	Psoas Muscle	Psoas
21	chr19:37112600-37119600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:37115000-37119600	ZNF genes & repeats	Fetal Brain Male	brain
23	chr19:37115400-37131800	ZNF genes & repeats	Left Ventricle	heart
24	chr19:37115600-37118800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr19:37116200-37119600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr19:37116200-37120200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:37116600-37119800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr19:37116800-37119000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:37116800-37119600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr19:37116800-37119800	ZNF genes & repeats	Fetal Lung	lung
31	chr19:37116800-37120400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:37116800-37120400	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr19:37117000-37118800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:37117000-37119600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:37117000-37119800	ZNF genes & repeats	Fetal Heart	heart
36	chr19:37117000-37120000	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr19:37117200-37119600	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:37117200-37124000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:37117400-37118800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:37117400-37119600	ZNF genes & repeats	Right Ventricle	heart
41	chr19:37117400-37120400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr19:37117400-37124000	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr19:37117800-37128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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