Variant report

Variant	rs6114208
Chromosome Location	chr20:23621734-23621735
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr20:23621694-23622374	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:23621678-23622134	HepG2	liver:	n/a	n/a
3	FOXA1	chr20:23621717-23622306	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:23621690-23622090	HepG2	liver:	n/a	n/a
5	MAZ	chr20:23621607-23622306	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:23621713-23622070	HepG2	liver:	n/a	n/a
7	HDAC2	chr20:23621650-23622329	HepG2	liver:	n/a	n/a
8	MAX	chr20:23621638-23622398	HepG2	liver:	n/a	n/a
9	MBD4	chr20:23621213-23622252	HepG2	liver:	n/a	n/a
10	HEY1	chr20:23620740-23622184	HepG2	liver:	n/a	n/a
11	RFX5	chr20:23621658-23622051	HepG2	liver:	n/a	n/a
12	MYBL2	chr20:23621583-23622396	HepG2	liver:	n/a	n/a
13	NFIC	chr20:23621649-23622196	HepG2	liver:	n/a	n/a
14	POLR2A	chr20:23621690-23622092	HepG2	liver:	n/a	n/a
15	MYBL2	chr20:23620530-23622392	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23615698..23619686-chr20:23620113..23624171,4	MCF-7	breast:
2	chr20:23616967..23620200-chr20:23620235..23623406,7	MCF-7	breast:
3	chr20:23619975..23621824-chr20:23630879..23635181,3	MCF-7	breast:
4	chr20:23617967..23620245-chr20:23621003..23622581,2	K562	blood:

No data

Variant related genes	Relation type
CST3	TF binding region
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1010117	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1011226	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1064039	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158167	0.80[CEU][hapmap];0.88[JPT][hapmap]
rs12624424	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625182	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625716	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13037490	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13038305	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13038337	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13038990	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039536	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13040663	0.81[EUR][1000 genomes]
rs13041070	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13043266	0.86[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13043610	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1555355	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17751897	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2016161	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067488	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254635	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405367	0.90[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2405392	0.82[CEU][hapmap];0.88[JPT][hapmap]
rs2424582	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703706	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897119	0.83[EUR][1000 genomes]
rs3088162	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34374560	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34746357	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792920	0.81[EUR][1000 genomes]
rs34897231	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911568	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35488434	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573837	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35610040	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35782710	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35966482	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761280	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761281	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787498	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787499	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810575	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs3827141	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827142	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827143	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346460	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs4815222	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs4815223	0.89[CEU][hapmap]
rs4815224	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030707	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897275	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56371840	0.84[EUR][1000 genomes]
rs56388902	0.83[EUR][1000 genomes]
rs57549987	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59059917	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036461	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs6036465	0.81[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036469	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036470	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036471	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036474	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036476	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036478	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048920	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs6048923	0.86[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs6048928	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6048929	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048930	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs6048933	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048936	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048941	0.81[EUR][1000 genomes]
rs6048945	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048946	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048949	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048950	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048952	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048956	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61035931	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114201	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6114206	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515375	0.80[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67567111	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67997662	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71334202	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7265178	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7270413	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73318135	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734801	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114619	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8115417	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8115423	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8116859	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121147	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8121283	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8121405	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs911119	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv964381	chr20:23614805-23621846	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6114208	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23618600-23621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:23618600-23621800	Weak transcription	Left Ventricle	heart
3	chr20:23618600-23622000	Weak transcription	HUVEC	blood vessel
4	chr20:23618600-23622200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr20:23618600-23622400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:23618600-23622400	Weak transcription	NHDF-Ad	bronchial
7	chr20:23618600-23622400	Weak transcription	NHLF	lung
8	chr20:23618600-23622600	Weak transcription	Brain Anterior Caudate	brain
9	chr20:23618600-23622600	Weak transcription	Brain Substantia Nigra	brain
10	chr20:23618600-23622600	Weak transcription	Colon Smooth Muscle	Colon
11	chr20:23618600-23624800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:23618600-23626000	Weak transcription	Gastric	stomach
13	chr20:23618800-23621800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr20:23618800-23622000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:23618800-23622000	Enhancers	Placenta	Placenta
16	chr20:23618800-23622000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr20:23618800-23622200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:23618800-23622400	Weak transcription	Fetal Lung	lung
19	chr20:23618800-23622400	Weak transcription	Osteobl	bone
20	chr20:23618800-23622600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:23618800-23622600	Weak transcription	Right Atrium	heart
22	chr20:23618800-23623000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:23618800-23623000	Weak transcription	NH-A	brain
24	chr20:23618800-23625200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr20:23618800-23626400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr20:23618800-23628600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr20:23619000-23622400	Flanking Active TSS	HepG2	liver
28	chr20:23619200-23621800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:23619200-23621800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr20:23619200-23621800	Weak transcription	Right Ventricle	heart
31	chr20:23619200-23622000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr20:23619200-23622600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr20:23619400-23622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr20:23619400-23622800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:23619400-23623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:23619600-23621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:23619600-23622200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr20:23620000-23621800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr20:23620000-23623200	Enhancers	Spleen	Spleen
40	chr20:23620000-23625000	Enhancers	Fetal Thymus	thymus
41	chr20:23620200-23623600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:23620400-23621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr20:23620400-23622200	Weak transcription	Stomach Mucosa	stomach
44	chr20:23620600-23622800	Weak transcription	Colonic Mucosa	Colon
45	chr20:23620800-23622000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr20:23620800-23623000	Enhancers	Thymus	Thymus
47	chr20:23620800-23623000	Weak transcription	HMEC	breast
48	chr20:23620800-23623000	Weak transcription	NHEK	skin
49	chr20:23620800-23623200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:23620800-23623400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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