Variant report

Variant	rs57422927
Chromosome Location	chr2:190433895-190433896
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	chr2:190433748..190435691-chr2:190445245..190446786,2	K562	blood:
2	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2119071	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667287	0.84[ASN][1000 genomes]
rs994226	0.81[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
2	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
5	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:190428200-190434600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:190429000-190434000	Strong transcription	Fetal Intestine Large	intestine
9	chr2:190429000-190435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:190429000-190438000	Genic enhancers	Liver	Liver
11	chr2:190429000-190438200	Strong transcription	Dnd41	blood
12	chr2:190429000-190439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:190429000-190439600	Weak transcription	Lung	lung
14	chr2:190429000-190441600	Weak transcription	Fetal Brain Female	brain
15	chr2:190429000-190442000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
17	chr2:190429200-190439600	Weak transcription	Colonic Mucosa	Colon
18	chr2:190429400-190439600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:190429800-190441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:190430200-190435400	Weak transcription	Right Ventricle	heart
21	chr2:190430200-190443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:190430400-190434000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:190430400-190434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:190430400-190434000	Weak transcription	HepG2	liver
25	chr2:190430400-190435200	Weak transcription	HSMMtube	muscle
26	chr2:190430400-190439600	Weak transcription	Gastric	stomach
27	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:190430600-190434000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:190431000-190439600	Weak transcription	Fetal Brain Male	brain
30	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:190431600-190435000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:190431600-190441200	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:190431800-190434000	Weak transcription	Small Intestine	intestine
34	chr2:190431800-190440000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:190432000-190434000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:190432000-190434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:190432000-190434000	Strong transcription	Fetal Kidney	kidney
38	chr2:190432000-190434000	Weak transcription	Psoas Muscle	Psoas
39	chr2:190432000-190434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:190432000-190435400	Weak transcription	Left Ventricle	heart
41	chr2:190432000-190436400	Weak transcription	Fetal Thymus	thymus
42	chr2:190432000-190444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:190432200-190434200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:190432400-190434000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:190432600-190435200	Weak transcription	A549	lung
46	chr2:190432600-190435400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:190432600-190435400	Strong transcription	Placenta	Placenta
48	chr2:190432600-190435400	Weak transcription	Pancreas	Pancrea
49	chr2:190432600-190435400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:190432600-190438200	Weak transcription	Aorta	Aorta

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