Variant report

Variant	rs2016161
Chromosome Location	chr20:23621174-23621175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr20:23620543-23621471	HepG2	liver:	n/a	n/a
2	EP300	chr20:23620648-23621195	HepG2	liver:	n/a	n/a
3	TEAD4	chr20:23620696-23621274	HepG2	liver:	n/a	chr20:23621013-23621022
4	HEY1	chr20:23620826-23621288	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:23620673-23621211	HepG2	liver:	n/a	n/a
6	HDAC2	chr20:23620577-23621181	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23620745-23621195	HepG2	liver:	n/a	n/a
8	HEY1	chr20:23620740-23622184	HepG2	liver:	n/a	n/a
9	MAZ	chr20:23621034-23621261	HepG2	liver:	n/a	n/a
10	MYBL2	chr20:23620530-23622392	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23621136-23621186	ProgFib	skin:	n/a
2	chr20:23621136-23621186	ovcar-3	ovarian:	n/a
3	chr20:23621136-23621186	NH-A	brain:	n/a
4	chr20:23621136-23621186	HRPEpiC	eye:	n/a
5	chr20:23621136-23621186	Jurkat	blood:	n/a
6	chr20:23621136-23621186	CMK	blood:	n/a
7	chr20:23621136-23621186	T-47D	breast:	n/a
8	chr20:23621136-23621186	HEK293	kidney:	embryo
9	chr20:23621136-23621186	PFSK-1	brain:	n/a
10	chr20:23621136-23621186	BE2_C	brain:	n/a
11	chr20:23621136-23621186	HIPEpiC	eye:	n/a
12	chr20:23621136-23621186	Caco-2	colon:	n/a
13	chr20:23621136-23621186	IMR90	lung:	fetal
14	chr20:23621136-23621186	SK-N-SH_RA	brain:	n/a
15	chr20:23621136-23621186	SK-N-MC	brain:	n/a
16	chr20:23621136-23621186	HL-60	blood:	n/a
17	chr20:23621136-23621186	LNCaP	prostate:	n/a
18	chr20:23621136-23621186	HNPCEpiC	eye:	n/a
19	chr20:23621136-23621186	HCT-116	colon:	n/a
20	chr20:23621136-23621186	SAEC	small airway:	n/a
21	chr20:23621136-23621186	U87	brain:	n/a
22	chr20:23621136-23621186	HUVEC	blood vessel:	n/a
23	chr20:23621136-23621186	AG04450	lung:	fetal
24	chr20:23621136-23621186	GM12892	blood:	n/a
25	chr20:23621136-23621186	HepG2	liver:	n/a
26	chr20:23621136-23621186	SKMC	muscle:	n/a
27	chr20:23621136-23621186	Hepatocyte	liver:	n/a
28	chr20:23621136-23621186	GM19239	blood:	n/a
29	chr20:23621136-23621186	Hela-S3	cervix:	n/a
30	chr20:23621136-23621186	HCF	heart:	n/a
31	chr20:23621136-23621186	NHDF-neo	bronchial:	n/a
32	chr20:23621136-23621186	BJ	skin:	n/a
33	chr20:23621136-23621186	AoSMC	blood vessel:	n/a
34	chr20:23621136-23621186	HMEC	breast:	n/a
35	chr20:23621136-23621186	MCF10A-Er-Src	breast:	n/a
36	chr20:23621136-23621186	A549	lung:	n/a
37	chr20:23621136-23621186	SK-N-SH	brain:	n/a
38	chr20:23621136-23621186	K562	blood:	n/a
39	chr20:23621136-23621186	HAEpiC	amniotic membrane:	n/a
40	chr20:23621136-23621186	PANC-1	pancreas:	n/a
41	chr20:23621136-23621186	HRCEpiC	kidney:	n/a
42	chr20:23621136-23621186	HRE	kidney:	n/a
43	chr20:23621136-23621186	HPAEpiC	pulmonary alveolar:	n/a
44	chr20:23621136-23621186	HEEpiC	esophagus:	n/a
45	chr20:23621136-23621186	HCPEpiC	choroid plexus:	n/a
46	chr20:23621136-23621186	PrEC	prostate:	n/a
47	chr20:23621136-23621186	AG09319	gingival:	n/a
48	chr20:23621136-23621186	MCF-7	breast:	n/a
49	chr20:23621136-23621186	H1-hESC	embryonic stem cell:	embryo
50	chr20:23621136-23621186	GM12891	blood:	n/a

(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
CST3	CpG island
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1010117	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1011226	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1064039	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158167	0.80[EUR][1000 genomes]
rs12624424	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625182	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625716	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13037490	0.83[EUR][1000 genomes]
rs13038305	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13038337	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13038990	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039536	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13040663	0.80[EUR][1000 genomes]
rs13041070	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13043266	0.85[EUR][1000 genomes]
rs13043610	0.85[EUR][1000 genomes]
rs1555355	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17751897	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2067488	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2208289	0.80[EUR][1000 genomes]
rs2254635	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405367	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424582	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703706	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897119	0.81[EUR][1000 genomes]
rs3004139	0.80[EUR][1000 genomes]
rs3004145	0.80[EUR][1000 genomes]
rs3088162	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34374560	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34746357	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792920	0.82[EUR][1000 genomes]
rs34897231	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911568	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35488434	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573837	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35610040	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35782710	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35966482	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761280	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761281	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787498	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787499	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810575	0.80[EUR][1000 genomes]
rs3827141	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827142	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827143	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815222	0.80[EUR][1000 genomes]
rs4815223	0.80[EUR][1000 genomes]
rs4815224	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030707	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897275	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56371840	0.84[EUR][1000 genomes]
rs56388902	0.84[EUR][1000 genomes]
rs57549987	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59059917	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036461	0.80[EUR][1000 genomes]
rs6036463	0.80[EUR][1000 genomes]
rs6036465	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036469	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036470	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036471	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036474	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036476	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036478	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048920	0.80[EUR][1000 genomes]
rs6048922	0.80[EUR][1000 genomes]
rs6048923	0.83[EUR][1000 genomes]
rs6048924	0.80[EUR][1000 genomes]
rs6048928	0.85[EUR][1000 genomes]
rs6048929	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048933	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048936	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048941	0.82[EUR][1000 genomes]
rs6048945	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048946	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048949	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048950	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048952	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048956	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61035931	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114201	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6114206	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114208	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114209	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515375	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67567111	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67997662	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71334202	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7265178	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7270413	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73318135	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734801	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114619	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8115417	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8115423	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8116859	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121147	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8121283	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8121405	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs911119	0.96[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
rs2016161	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23618600-23621200	Weak transcription	Ovary	ovary
2	chr20:23618600-23621200	Weak transcription	GM12878-XiMat	blood
3	chr20:23618600-23621600	Weak transcription	Liver	Liver
4	chr20:23618600-23621600	Weak transcription	Brain Hippocampus Middle	brain
5	chr20:23618600-23621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:23618600-23621800	Weak transcription	Left Ventricle	heart
7	chr20:23618600-23622000	Weak transcription	HUVEC	blood vessel
8	chr20:23618600-23622200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr20:23618600-23622400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr20:23618600-23622400	Weak transcription	NHDF-Ad	bronchial
11	chr20:23618600-23622400	Weak transcription	NHLF	lung
12	chr20:23618600-23622600	Weak transcription	Brain Anterior Caudate	brain
13	chr20:23618600-23622600	Weak transcription	Brain Substantia Nigra	brain
14	chr20:23618600-23622600	Weak transcription	Colon Smooth Muscle	Colon
15	chr20:23618600-23624800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:23618600-23626000	Weak transcription	Gastric	stomach
17	chr20:23618800-23621200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr20:23618800-23621200	Weak transcription	Psoas Muscle	Psoas
19	chr20:23618800-23621400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:23618800-23621400	Weak transcription	Primary B cells from cord blood	blood
21	chr20:23618800-23621400	Weak transcription	HSMMtube	muscle
22	chr20:23618800-23621600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr20:23618800-23621600	Weak transcription	Pancreas	Pancrea
24	chr20:23618800-23621600	Weak transcription	HSMM	muscle
25	chr20:23618800-23621800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr20:23618800-23622000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:23618800-23622000	Enhancers	Placenta	Placenta
28	chr20:23618800-23622000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr20:23618800-23622200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr20:23618800-23622400	Weak transcription	Fetal Lung	lung
31	chr20:23618800-23622400	Weak transcription	Osteobl	bone
32	chr20:23618800-23622600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr20:23618800-23622600	Weak transcription	Right Atrium	heart
34	chr20:23618800-23623000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr20:23618800-23623000	Weak transcription	NH-A	brain
36	chr20:23618800-23625200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr20:23618800-23626400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr20:23618800-23628600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr20:23619000-23622400	Flanking Active TSS	HepG2	liver
40	chr20:23619200-23621600	Weak transcription	Lung	lung
41	chr20:23619200-23621800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:23619200-23621800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr20:23619200-23621800	Weak transcription	Right Ventricle	heart
44	chr20:23619200-23622000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr20:23619200-23622600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr20:23619400-23622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr20:23619400-23622800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:23619400-23623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:23619600-23621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr20:23619600-23621400	Weak transcription	Adipose Nuclei	Adipose

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