Variant report

Variant	rs60696741
Chromosome Location	chr19:19176371-19176372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
2	chr19:19176303..19177932-chr19:19191338..19193529,2	K562	blood:
3	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
4	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
5	chr1:76250892..76253394-chr19:19175061..19177790,2	K562	blood:
6	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:
7	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
8	chr19:19143657..19146284-chr19:19174594..19176382,2	MCF-7	breast:
9	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
10	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
11	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064545	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.95[EUR][1000 genomes]
rs10221450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10221529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11549380	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498174	0.97[EUR][1000 genomes]
rs4808171	0.97[EUR][1000 genomes]
rs4808178	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4808180	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808896	0.97[EUR][1000 genomes]
rs4808897	0.97[EUR][1000 genomes]
rs4808899	0.97[EUR][1000 genomes]
rs4808909	0.92[EUR][1000 genomes]
rs4808910	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808921	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808922	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678828	0.97[EUR][1000 genomes]
rs56141206	0.97[EUR][1000 genomes]
rs56144126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56159042	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56227420	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60489867	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993458	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004898	0.97[EUR][1000 genomes]
rs73004899	0.97[EUR][1000 genomes]
rs73006907	0.97[EUR][1000 genomes]
rs73006928	0.93[EUR][1000 genomes]
rs73008923	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73008928	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008930	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008934	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008939	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008945	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008960	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010908	1.00[AMR][1000 genomes];0.90[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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv17267	chr19:19174047-19177125	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19174000-19176400	Active TSS	Fetal Kidney	kidney
2	chr19:19174000-19176400	Active TSS	Right Atrium	heart
3	chr19:19174000-19176600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:19174000-19176600	Active TSS	Thymus	Thymus
5	chr19:19174200-19176400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr19:19174200-19176400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr19:19174800-19176400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:19175000-19176400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:19175000-19176400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:19175000-19176400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:19175000-19176400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:19175000-19176400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:19175000-19176400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:19175000-19176400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:19175000-19176400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:19175000-19176400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:19175000-19176400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr19:19175000-19176400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:19175000-19176400	Flanking Active TSS	Right Ventricle	heart
20	chr19:19175000-19176400	Flanking Active TSS	Dnd41	blood
21	chr19:19175000-19176400	Flanking Active TSS	HMEC	breast
22	chr19:19175000-19176400	Flanking Active TSS	HUVEC	blood vessel
23	chr19:19175000-19176400	Flanking Active TSS	Osteobl	bone
24	chr19:19175000-19176600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr19:19175000-19176600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19175000-19176600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:19175000-19176600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:19175000-19176600	Flanking Active TSS	Liver	Liver
29	chr19:19175000-19176600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr19:19175000-19177200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:19175200-19176400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:19175200-19176400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:19175200-19176400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:19175200-19176400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr19:19175200-19176400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:19175200-19176400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr19:19175200-19176400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:19175200-19176400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr19:19175200-19176400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr19:19175200-19176400	Flanking Active TSS	Esophagus	oesophagus
41	chr19:19175200-19176400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr19:19175200-19176400	Flanking Active TSS	Fetal Stomach	stomach
43	chr19:19175200-19176400	Flanking Active TSS	Pancreas	Pancrea
44	chr19:19175200-19176400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr19:19175200-19176600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr19:19175200-19176600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:19175200-19176600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:19175200-19176600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr19:19175200-19176600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:19175200-19176600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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