Variant report

Variant	rs1222027
Chromosome Location	chr5:79285183-79285184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79284014..79286852-chr5:79290255..79291822,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs256437	1.00[ASN][1000 genomes]
rs256449	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021113	chr5:79034662-79289828	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79260600-79286200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:79269000-79286400	Weak transcription	Thymus	Thymus
3	chr5:79269800-79286000	Weak transcription	Fetal Heart	heart
4	chr5:79270000-79286000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:79270200-79286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:79271000-79286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:79271200-79285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:79271200-79285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:79271200-79285800	Weak transcription	NHLF	lung
10	chr5:79271400-79285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:79271400-79286000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:79271400-79286000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:79271600-79286000	Weak transcription	HUVEC	blood vessel
14	chr5:79272200-79286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:79272400-79286400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:79272400-79286400	Weak transcription	Pancreas	Pancrea
17	chr5:79272600-79285200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:79272600-79286000	Weak transcription	Small Intestine	intestine
19	chr5:79272600-79286400	Weak transcription	Gastric	stomach
20	chr5:79272800-79285400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:79273400-79286000	Weak transcription	Aorta	Aorta
22	chr5:79274000-79286400	Weak transcription	Esophagus	oesophagus
23	chr5:79274200-79286200	Weak transcription	Colonic Mucosa	Colon
24	chr5:79274400-79286000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:79276000-79285400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:79277600-79285800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:79277800-79285200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:79277800-79285200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:79278000-79285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:79278000-79286000	Weak transcription	Fetal Brain Male	brain
31	chr5:79278200-79285200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:79278400-79285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:79278800-79285800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:79279600-79286200	Weak transcription	Right Ventricle	heart
35	chr5:79280000-79286200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:79280200-79285200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:79280200-79285200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:79280200-79286400	Weak transcription	Lung	lung
39	chr5:79280200-79286400	Weak transcription	Spleen	Spleen
40	chr5:79280400-79286000	Weak transcription	Psoas Muscle	Psoas
41	chr5:79280600-79285400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:79280800-79285600	Weak transcription	NHEK	skin
43	chr5:79281400-79285200	Strong transcription	Ovary	ovary
44	chr5:79281400-79286200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:79281600-79285800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:79281600-79286200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:79281800-79286000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:79281800-79286000	Weak transcription	Fetal Kidney	kidney
49	chr5:79282400-79286000	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:79282400-79286200	Weak transcription	Rectal Mucosa Donor 31	rectum

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