Variant report

Variant	rs17718574
Chromosome Location	chr20:1349326-1349327
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1346000..1350154-chr20:1350167..1354202,4	K562	blood:

Variant related genes	Relation type
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6109605	1.00[CEU][hapmap]
rs6109623	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73581243	0.83[AMR][1000 genomes];0.96[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1323000-1350600	Weak transcription	Fetal Brain Male	brain
2	chr20:1323400-1354000	Weak transcription	Fetal Heart	heart
3	chr20:1326000-1350600	Weak transcription	Right Atrium	heart
4	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr20:1331600-1358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:1336200-1350600	Weak transcription	Right Ventricle	heart
7	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr20:1336400-1350600	Weak transcription	Fetal Lung	lung
9	chr20:1336400-1355600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:1337600-1349400	Strong transcription	Fetal Muscle Leg	muscle
12	chr20:1338600-1354800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr20:1339200-1350600	Weak transcription	Pancreas	Pancrea
14	chr20:1340000-1349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:1341200-1350400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr20:1341200-1351000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:1341200-1351600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
19	chr20:1341600-1350600	Weak transcription	Brain Substantia Nigra	brain
20	chr20:1341600-1350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:1341800-1350800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr20:1345000-1353000	Weak transcription	K562	blood
23	chr20:1345600-1358000	Weak transcription	Stomach Mucosa	stomach
24	chr20:1345800-1349400	Weak transcription	Small Intestine	intestine
25	chr20:1345800-1351200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr20:1345800-1356400	Strong transcription	Fetal Thymus	thymus
27	chr20:1346000-1349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:1346000-1349800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:1346000-1350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr20:1346000-1350800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr20:1346000-1351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr20:1346200-1349400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr20:1346200-1356800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:1346400-1351400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr20:1346600-1349600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr20:1346600-1353000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr20:1346600-1356800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr20:1346800-1351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:1347000-1355600	Strong transcription	GM12878-XiMat	blood
40	chr20:1347200-1354000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr20:1347400-1352000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:1347600-1354800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr20:1347600-1356400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr20:1347600-1359000	Strong transcription	Fetal Stomach	stomach
45	chr20:1347800-1349400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr20:1347800-1351600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr20:1347800-1352000	Strong transcription	Placenta	Placenta
48	chr20:1347800-1355800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr20:1347800-1357800	Strong transcription	HepG2	liver
50	chr20:1348000-1349400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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