Variant report

Variant	rs1294688
Chromosome Location	chr20:1368127-1368128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1159986..1162345-chr20:1366654..1368681,3	K562	blood:
2	chr20:1368035..1371402-chr20:1444854..1448732,3	MCF-7	breast:
3	chr20:1296232..1299079-chr20:1367748..1370124,3	K562	blood:
4	chr20:1368016..1369679-chr20:1370045..1371864,2	K562	blood:
5	chr20:1296607..1299079-chr20:1367748..1369670,2	K562	blood:
6	chr20:1308311..1310695-chr20:1367012..1369227,2	MCF-7	breast:
7	chr20:1305143..1307185-chr20:1367459..1369677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234684	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000088833	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11698028	0.85[ASN][1000 genomes]
rs396721	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs56335621	0.81[AFR][1000 genomes]
rs6041703	1.00[JPT][hapmap]
rs6041716	1.00[JPT][hapmap]
rs6074549	0.87[AFR][1000 genomes]
rs6078809	1.00[JPT][hapmap]
rs6078982	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs912113	1.00[JPT][hapmap]
rs9647031	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	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	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
4	chr20:1353200-1369400	Weak transcription	Brain Germinal Matrix	brain
5	chr20:1354400-1371200	Weak transcription	Fetal Brain Male	brain
6	chr20:1355400-1369000	Weak transcription	Fetal Brain Female	brain
7	chr20:1355600-1369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:1356400-1369600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr20:1356600-1369800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:1356800-1369200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:1356800-1371800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:1357600-1369000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr20:1358200-1369600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:1358400-1369800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:1358600-1369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr20:1358800-1370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:1359000-1369000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr20:1359200-1369600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr20:1359600-1369800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr20:1360000-1369800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr20:1360000-1369800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr20:1361200-1369000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr20:1362400-1369000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:1362800-1368200	Enhancers	Right Ventricle	heart
25	chr20:1363200-1368600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr20:1363200-1369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:1363400-1370400	Weak transcription	Fetal Kidney	kidney
28	chr20:1363600-1369800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr20:1363600-1369800	Weak transcription	NH-A	brain
30	chr20:1363800-1368600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:1363800-1368600	Genic enhancers	HUVEC	blood vessel
32	chr20:1363800-1368600	Weak transcription	NHDF-Ad	bronchial
33	chr20:1363800-1369000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr20:1363800-1369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:1363800-1369600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:1363800-1369800	Weak transcription	K562	blood
37	chr20:1363800-1371600	Weak transcription	Ovary	ovary
38	chr20:1364000-1368400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:1364000-1368800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr20:1364000-1368800	Weak transcription	Brain Substantia Nigra	brain
41	chr20:1364000-1369000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr20:1364000-1369400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr20:1364000-1369800	Weak transcription	Fetal Heart	heart
44	chr20:1364200-1369200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr20:1364200-1369600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr20:1364600-1369600	Weak transcription	Fetal Intestine Large	intestine
47	chr20:1364800-1368600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:1364800-1369000	Weak transcription	Colon Smooth Muscle	Colon
49	chr20:1364800-1369200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr20:1365000-1369000	Weak transcription	Fetal Intestine Small	intestine

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