Variant report

Variant	rs6109522
Chromosome Location	chr20:1319743-1319744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1319286-1319811	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr20:1319633-1319974	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr20:1319297-1319849	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr20:1319600-1319750	GM12866	blood:	n/a	n/a
5	POLR2A	chr20:1319499-1319841	K562	blood:	n/a	n/a
6	POLR2A	chr20:1316571-1319942	K562	blood:	n/a	n/a
7	POLR2A	chr20:1318135-1319802	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr20:1318933-1319834	HepG2	liver:	n/a	n/a
9	POLR2A	chr20:1318518-1319763	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr20:1319277-1319801	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1309326..1311683-chr20:1317369..1320859,3	MCF-7	breast:
2	chr20:1307820..1310838-chr20:1317476..1319823,3	K562	blood:
3	chr20:1310039..1313013-chr20:1319417..1322012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203630	TF binding region
ENSG00000125775	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10485824	1.00[CHB][hapmap]
rs11087048	1.00[ASN][1000 genomes]
rs11697322	1.00[CHB][hapmap]
rs11699494	1.00[CHB][hapmap]
rs13163	1.00[CHB][hapmap]
rs13433171	1.00[ASN][1000 genomes]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs17793560	1.00[CHB][hapmap]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap]
rs2256095	1.00[CHB][hapmap]
rs2256229	1.00[CHB][hapmap]
rs2256240	1.00[CHB][hapmap]
rs2256243	1.00[CHB][hapmap]
rs2256250	1.00[CHB][hapmap]
rs2256251	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap]
rs4577347	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4813115	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4814102	1.00[CHB][hapmap]
rs56035174	1.00[ASN][1000 genomes]
rs57806058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59377624	1.00[ASN][1000 genomes]
rs59681252	1.00[ASN][1000 genomes]
rs6033534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033672	1.00[ASN][1000 genomes]
rs6033871	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033896	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041382	1.00[ASN][1000 genomes]
rs6041689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6041716	1.00[CHB][hapmap]
rs6041717	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042000	1.00[ASN][1000 genomes]
rs6042506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042568	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042578	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6104943	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6105031	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109511	1.00[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109784	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap]
rs6110189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6110193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62187542	1.00[ASN][1000 genomes]
rs62187543	1.00[ASN][1000 genomes]
rs6514337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6514364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs715217	1.00[CHB][hapmap]
rs7271240	1.00[CHB][hapmap]
rs73067251	1.00[ASN][1000 genomes]
rs73069188	1.00[ASN][1000 genomes]
rs73579382	1.00[ASN][1000 genomes]
rs73579400	0.81[AFR][1000 genomes]
rs73581208	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8117563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8117744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8118276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8119259	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912113	1.00[CHB][hapmap]
rs958839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1307600-1327200	Weak transcription	Fetal Brain Female	brain
2	chr20:1307600-1340400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:1309000-1322000	Weak transcription	HSMMtube	muscle
4	chr20:1309800-1335400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:1310200-1321400	Weak transcription	K562	blood
7	chr20:1311600-1335200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:1313800-1327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:1314200-1320000	Enhancers	HUVEC	blood vessel
10	chr20:1314400-1325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:1314600-1327200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:1314800-1322000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr20:1314800-1327200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr20:1315000-1327600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:1315600-1329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:1316000-1325600	Weak transcription	A549	lung
17	chr20:1316200-1327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:1316600-1319800	Enhancers	Right Atrium	heart
19	chr20:1316600-1320800	Enhancers	Left Ventricle	heart
20	chr20:1316800-1319800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:1316800-1319800	Enhancers	Pancreas	Pancrea
22	chr20:1317000-1319800	Enhancers	Right Ventricle	heart
23	chr20:1317200-1319800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr20:1317600-1322400	Weak transcription	Osteobl	bone
25	chr20:1317600-1325800	Weak transcription	Dnd41	blood
26	chr20:1317600-1333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:1317800-1322200	Weak transcription	HSMM	muscle
28	chr20:1317800-1322200	Weak transcription	NH-A	brain
29	chr20:1317800-1322200	Weak transcription	NHLF	lung
30	chr20:1317800-1322400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:1317800-1322400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr20:1317800-1325800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr20:1317800-1326000	Weak transcription	GM12878-XiMat	blood
34	chr20:1317800-1326600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr20:1317800-1335400	Weak transcription	Brain Anterior Caudate	brain
36	chr20:1318000-1320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr20:1318000-1322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:1318000-1322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:1318000-1322200	Weak transcription	Thymus	Thymus
40	chr20:1318000-1324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:1318000-1327000	Weak transcription	Primary B cells from cord blood	blood
42	chr20:1318000-1328000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr20:1318000-1331600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr20:1318000-1335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:1318000-1335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:1318200-1322000	Weak transcription	Brain Angular Gyrus	brain
47	chr20:1318400-1319800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr20:1318400-1325800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr20:1318400-1335000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr20:1318400-1335000	Weak transcription	NHEK	skin

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