Variant report

Variant	rs61195828
Chromosome Location	chr19:42565683-42565684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42564882..42566424-chr19:42573255..42576175,2	K562	blood:
2	chr19:42564801..42567463-chr19:42579003..42580521,2	K562	blood:
3	chr19:42553625..42555151-chr19:42564770..42567524,2	K562	blood:
4	chr19:42563719..42566301-chr19:42577597..42580503,2	K562	blood:

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000105737	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10407506	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056995	0.82[EUR][1000 genomes]
rs11878917	0.86[ASN][1000 genomes]
rs16975663	0.85[ASN][1000 genomes]
rs3736109	1.00[ASN][1000 genomes]
rs7251466	1.00[ASN][1000 genomes]
rs899661	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42539400-42570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:42539400-42572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:42540400-42572600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:42552200-42570200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:42552600-42570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:42552800-42570000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:42552800-42571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:42553000-42570200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr19:42553000-42570200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:42553200-42569600	Strong transcription	Brain Germinal Matrix	brain
11	chr19:42553200-42570200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:42553400-42570400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr19:42553600-42570000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:42553800-42568800	Weak transcription	Primary T cells from cord blood	blood
15	chr19:42553800-42571600	Weak transcription	Spleen	Spleen
16	chr19:42553800-42573200	Weak transcription	Pancreas	Pancrea
17	chr19:42553800-42573200	Weak transcription	Right Atrium	heart
18	chr19:42554400-42567000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:42554400-42570200	Strong transcription	Fetal Stomach	stomach
20	chr19:42555000-42570200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:42555400-42570200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:42555600-42570200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:42556800-42569200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:42556800-42570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:42557000-42568400	Strong transcription	Fetal Brain Female	brain
26	chr19:42557800-42579200	Weak transcription	Gastric	stomach
27	chr19:42558000-42571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:42559400-42572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:42559600-42572600	Weak transcription	Fetal Kidney	kidney
30	chr19:42559800-42569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:42561200-42566200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:42561200-42568600	Weak transcription	Fetal Brain Male	brain
33	chr19:42561400-42566000	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:42561600-42565800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:42561600-42571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:42563000-42569800	Strong transcription	Aorta	Aorta
37	chr19:42563200-42567200	Strong transcription	Brain Cingulate Gyrus	brain
38	chr19:42563200-42570200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:42563400-42569200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:42563600-42565800	Weak transcription	Esophagus	oesophagus
41	chr19:42563800-42565800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:42563800-42565800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:42563800-42568600	Weak transcription	Brain Angular Gyrus	brain
44	chr19:42563800-42569800	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:42564000-42570800	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:42564200-42565800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:42564200-42565800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:42564600-42566000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:42564600-42566000	Weak transcription	Brain Anterior Caudate	brain
50	chr19:42564600-42566000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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