Variant report

Variant	rs6514339
Chromosome Location	chr20:1348426-1348427
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1342733..1346538-chr20:1346730..1348798,3	K562	blood:
2	chr20:1346000..1350154-chr20:1350167..1354202,4	K562	blood:
3	chr20:1343841..1348695-chr20:1349294..1353469,5	K562	blood:

Variant related genes	Relation type
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs4505594	0.82[CEU][hapmap]
rs55686498	0.98[EUR][1000 genomes]
rs55977660	0.98[EUR][1000 genomes]
rs6041734	1.00[CEU][hapmap]
rs6041772	0.82[CEU][hapmap]
rs6041774	0.82[CEU][hapmap]
rs6041827	0.82[CEU][hapmap]
rs6041861	0.84[YRI][hapmap]
rs6042588	1.00[JPT][hapmap]
rs62187536	0.86[EUR][1000 genomes]
rs62187537	0.95[EUR][1000 genomes]
rs62187539	0.88[EUR][1000 genomes]
rs62187541	0.98[EUR][1000 genomes]
rs62187544	0.98[EUR][1000 genomes]
rs7274030	0.98[EUR][1000 genomes]
rs7274574	0.82[CEU][hapmap]
rs7274616	0.97[EUR][1000 genomes]
rs8117563	1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][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	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:1323000-1350600	Weak transcription	Fetal Brain Male	brain
3	chr20:1323400-1354000	Weak transcription	Fetal Heart	heart
4	chr20:1326000-1350600	Weak transcription	Right Atrium	heart
5	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr20:1331600-1349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:1331600-1358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:1332400-1349200	Weak transcription	Colonic Mucosa	Colon
9	chr20:1333200-1349000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:1336200-1350600	Weak transcription	Right Ventricle	heart
11	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr20:1336400-1350600	Weak transcription	Fetal Lung	lung
13	chr20:1336400-1355600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:1337600-1349400	Strong transcription	Fetal Muscle Leg	muscle
16	chr20:1338600-1354800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr20:1339000-1348800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:1339200-1350600	Weak transcription	Pancreas	Pancrea
19	chr20:1340000-1349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr20:1340200-1349000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr20:1340200-1349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:1341200-1350400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr20:1341200-1351000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:1341200-1351600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
26	chr20:1341600-1350600	Weak transcription	Brain Substantia Nigra	brain
27	chr20:1341600-1350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:1341800-1350800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr20:1342400-1349000	Weak transcription	Colon Smooth Muscle	Colon
30	chr20:1344600-1349200	Strong transcription	HUVEC	blood vessel
31	chr20:1344800-1348600	Weak transcription	HSMMtube	muscle
32	chr20:1344800-1349000	Weak transcription	HSMM	muscle
33	chr20:1345000-1353000	Weak transcription	K562	blood
34	chr20:1345400-1348600	Strong transcription	NHDF-Ad	bronchial
35	chr20:1345600-1349000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:1345600-1358000	Weak transcription	Stomach Mucosa	stomach
37	chr20:1345800-1349000	Strong transcription	A549	lung
38	chr20:1345800-1349400	Weak transcription	Small Intestine	intestine
39	chr20:1345800-1351200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr20:1345800-1356400	Strong transcription	Fetal Thymus	thymus
41	chr20:1346000-1349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:1346000-1349800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:1346000-1350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr20:1346000-1350800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr20:1346000-1351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr20:1346200-1348800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr20:1346200-1349400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr20:1346200-1356800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:1346400-1351400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr20:1346600-1349600	Strong transcription	Primary T cells fromperipheralblood	blood

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