Variant report

Variant	rs6078233
Chromosome Location	chr20:1207422-1207423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr20:1206410-1207808	A549	lung:	n/a	chr20:1207386-1207395
2	MAX	chr20:1206472-1207693	A549	lung:	n/a	chr20:1207386-1207395
3	SP1	chr20:1207074-1207782	A549	lung:	n/a	chr20:1207150-1207164
4	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
5	RCOR1	chr20:1207264-1208141	K562	blood:	n/a	n/a
6	BACH1	chr20:1206692-1207487	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr20:1206549-1207438	ECC-1	luminal epithelium:	n/a	n/a
8	IRF1	chr20:1207385-1207703	K562	blood:	n/a	chr20:1207519-1207533 chr20:1207523-1207533
9	ZBTB7A	chr20:1207055-1207504	K562	blood:	n/a	n/a
10	MAX	chr20:1206633-1207627	K562	blood:	n/a	chr20:1207386-1207395
11	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
12	CTCF	chr20:1207400-1207550	HCT-116	colon:	n/a	n/a
13	CCNT2	chr20:1206635-1207632	K562	blood:	n/a	n/a
14	CTCF	chr20:1207420-1207570	MCF-7	breast:	n/a	n/a
15	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
16	CTCF	chr20:1207400-1207550	HVMF	connective:	n/a	n/a
17	RAD21	chr20:1207338-1207703	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr20:1206468-1207601	HCT-116	colon:	n/a	chr20:1207386-1207395
19	POLR2A	chr20:1206462-1207661	K562	blood:	n/a	n/a
20	UBTF	chr20:1206773-1207640	K562	blood:	n/a	n/a
21	CTCF	chr20:1207380-1207530	HRE	kidney:	n/a	n/a
22	CTCF	chr20:1206633-1207896	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr20:1207380-1207530	RPTEC	kidney:	n/a	n/a
24	MXI1	chr20:1206558-1207748	SK-N-SH	brain:	n/a	n/a
25	UBTF	chr20:1206657-1207634	K562	blood:	n/a	n/a
26	FOXA2	chr20:1207394-1207606	HepG2	liver:	n/a	chr20:1207514-1207526
27	ZBTB7A	chr20:1206545-1207440	K562	blood:	n/a	n/a
28	RCOR1	chr20:1207335-1207724	K562	blood:	n/a	n/a
29	E2F6	chr20:1206545-1207671	A549	lung:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1207390-1207402 chr20:1206876-1206886
30	MYC	chr20:1206668-1207564	K562	blood:	n/a	chr20:1207386-1207395
31	TCF12	chr20:1206611-1207453	A549	lung:	n/a	n/a
32	CBX3	chr20:1207411-1207758	K562	blood:	n/a	n/a
33	CTCF	chr20:1207420-1207570	HFF	foreskin:	n/a	n/a
34	RAD21	chr20:1207363-1207791	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr20:1206593-1207444	K562	blood:	n/a	n/a
36	MAX	chr20:1206530-1207472	K562	blood:	n/a	chr20:1207386-1207395

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1207383-1207433	GM12878	blood:	n/a
2	chr20:1207383-1207433	CMK	blood:	n/a
3	chr20:1207383-1207433	AoSMC	blood vessel:	n/a
4	chr20:1207383-1207433	ProgFib	skin:	n/a
5	chr20:1207383-1207433	HEEpiC	esophagus:	n/a
6	chr20:1207383-1207433	BE2_C	brain:	n/a
7	chr20:1207383-1207433	AG09319	gingival:	n/a
8	chr20:1207383-1207433	HIPEpiC	eye:	n/a
9	chr20:1207383-1207433	GM12891	blood:	n/a
10	chr20:1207383-1207433	Jurkat	blood:	n/a
11	chr20:1207383-1207433	GM12892	blood:	n/a
12	chr20:1207383-1207433	HRCEpiC	kidney:	n/a
13	chr20:1207383-1207433	ECC-1	luminal epithelium:	n/a
14	chr20:1207383-1207433	AG09309	skin:	n/a
15	chr20:1207383-1207433	U87	brain:	n/a
16	chr20:1207383-1207433	HCT-116	colon:	n/a
17	chr20:1207383-1207433	PFSK-1	brain:	n/a
18	chr20:1207383-1207433	HUVEC	blood vessel:	n/a
19	chr20:1207383-1207433	AG04449	skin:	fetal
20	chr20:1207383-1207433	RPTEC	kidney:	n/a
21	chr20:1207383-1207433	K562	blood:	n/a
22	chr20:1207383-1207433	NB4	blood:	n/a
23	chr20:1207383-1207433	HAEpiC	amniotic membrane:	n/a
24	chr20:1207383-1207433	HCM	heart:	n/a
25	chr20:1207383-1207433	A549	lung:	n/a
26	chr20:1207383-1207433	SK-N-MC	brain:	n/a
27	chr20:1207383-1207433	HCF	heart:	n/a
28	chr20:1207383-1207433	MCF-7	breast:	n/a
29	chr20:1207383-1207433	MCF10A-Er-Src	breast:	n/a
30	chr20:1207383-1207433	Caco-2	colon:	n/a
31	chr20:1207383-1207433	HRE	kidney:	n/a
32	chr20:1207383-1207433	Hepatocyte	liver:	n/a
33	chr20:1207383-1207433	HL-60	blood:	n/a
34	chr20:1207383-1207433	SK-N-SH_RA	brain:	n/a
35	chr20:1207383-1207433	GM19239	blood:	n/a
36	chr20:1207383-1207433	HCPEpiC	choroid plexus:	n/a
37	chr20:1207383-1207433	GM06990	blood:	n/a
38	chr20:1207383-1207433	BJ	skin:	n/a
39	chr20:1207383-1207433	LNCaP	prostate:	n/a
40	chr20:1207383-1207433	HEK293	kidney:	embryo
41	chr20:1207383-1207433	AG10803	skin:	n/a
42	chr20:1207383-1207433	PANC-1	pancreas:	n/a
43	chr20:1207383-1207433	AG04450	lung:	fetal
44	chr20:1207383-1207433	IMR90	lung:	fetal
45	chr20:1207383-1207433	T-47D	breast:	n/a
46	chr20:1207383-1207433	HPAEpiC	pulmonary alveolar:	n/a
47	chr20:1207383-1207433	HepG2	liver:	n/a
48	chr20:1207383-1207433	SKMC	muscle:	n/a
49	chr20:1207383-1207433	ovcar-3	ovarian:	n/a
50	chr20:1207383-1207433	PrEC	prostate:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1206512..1208051-chr20:1245857..1247433,2	K562	blood:
2	chr20:1206586..1208814-chr20:1304748..1306483,2	K562	blood:
3	chr20:1206796..1208958-chr20:1209065..1211253,2	MCF-7	breast:
4	chr20:1207352..1209653-chr20:1227300..1229207,2	K562	blood:
5	chr20:1207162..1208733-chr20:1230513..1232075,2	K562	blood:
6	chr20:1206971..1208847-chr20:1236164..1237785,2	K562	blood:
7	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:
8	chr20:1206916..1209904-chr20:1219433..1221518,2	K562	blood:

No data

Variant related genes	Relation type
RAD21L1	TF binding region
RAD21L1	CpG island
ENSG00000101298	Chromatin interaction
ENSG00000244588	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62186522	1.00[ASN][1000 genomes]
rs62187482	1.00[ASN][1000 genomes]
rs62187484	1.00[ASN][1000 genomes]
rs62187492	1.00[ASN][1000 genomes]
rs62187493	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3436470	chr20:1205377-1207925	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3509885	chr20:1205427-1207700	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3509887	chr20:1205427-1207700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
7	chr20:1206000-1207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:1206000-1207600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:1206000-1207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr20:1206000-1207600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:1206000-1207600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:1206000-1207600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:1206000-1207600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:1206000-1207600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr20:1206000-1207600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr20:1206000-1207600	Active TSS	Right Ventricle	heart
17	chr20:1206000-1207600	Active TSS	Hela-S3	cervix
18	chr20:1206000-1207600	Active TSS	NHDF-Ad	bronchial
19	chr20:1206000-1207800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:1206000-1207800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:1206000-1207800	Active TSS	Brain Anterior Caudate	brain
22	chr20:1206000-1207800	Active TSS	Psoas Muscle	Psoas
23	chr20:1206000-1207800	Bivalent/Poised TSS	NHEK	skin
24	chr20:1206000-1208000	Enhancers	Spleen	Spleen
25	chr20:1206000-1208000	Active TSS	K562	blood
26	chr20:1206200-1207600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:1206200-1207600	Active TSS	NHLF	lung
28	chr20:1206600-1207600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr20:1206600-1207600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr20:1206800-1207600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr20:1206800-1207600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:1206800-1207600	Active TSS	Brain Substantia Nigra	brain
36	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr20:1206800-1207600	Flanking Active TSS	Ovary	ovary
40	chr20:1206800-1207600	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr20:1206800-1207600	Bivalent/Poised TSS	HSMMtube	muscle
42	chr20:1206800-1207800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr20:1206800-1207800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
44	chr20:1206800-1207800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr20:1206800-1207800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:1206800-1207800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:1206800-1207800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr20:1206800-1207800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr20:1206800-1208000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr20:1206800-1208000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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