Variant report

Variant	rs11085252
Chromosome Location	chr19:19265166-19265167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19264781..19267445-chr19:19268934..19271161,3	K562	blood:
2	chr19:19264781..19267345-chr19:19269260..19271161,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005980	0.83[EUR][1000 genomes]
rs1006057	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421947	0.81[ASN][1000 genomes]
rs10854006	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085253	0.94[ASN][1000 genomes]
rs1985805	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2006975	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2006978	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66661132	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66725322	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7249142	0.98[ASN][1000 genomes]
rs7253645	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257072	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249400-19271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:19249600-19271800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:19249600-19282600	Weak transcription	NHLF	lung
4	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:19250000-19266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:19253600-19265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:19257000-19266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:19257000-19271200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:19257000-19271600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:19257000-19280400	Weak transcription	Gastric	stomach
15	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
16	chr19:19257400-19266400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:19257400-19269000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:19257800-19270000	Weak transcription	Osteobl	bone
19	chr19:19257800-19270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:19258000-19267800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:19258400-19280600	Weak transcription	Right Ventricle	heart
22	chr19:19258600-19273000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:19258800-19272600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:19258800-19280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:19259000-19266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:19259200-19267000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:19259400-19268200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:19260200-19271600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:19260200-19280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:19260200-19280600	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:19260400-19266200	Weak transcription	Aorta	Aorta
33	chr19:19260400-19266200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:19260400-19267200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:19260400-19267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:19260400-19267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:19260400-19269400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:19260400-19280800	Weak transcription	Ovary	ovary
39	chr19:19260600-19265800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:19260600-19266200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:19260600-19266200	Weak transcription	Fetal Intestine Large	intestine
42	chr19:19260600-19266200	Weak transcription	Fetal Lung	lung
43	chr19:19260600-19266200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:19260600-19266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:19260600-19266600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:19260600-19266800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:19260600-19266800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:19260600-19267400	Weak transcription	Dnd41	blood
49	chr19:19260600-19270200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:19260600-19270600	Weak transcription	Esophagus	oesophagus

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