Variant report

Variant	rs446359
Chromosome Location	chr20:1206272-1206273
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1205984-1206443	H1-neurons	neurons:	n/a	n/a
2	NRF1	chr20:1205944-1206339	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
4	POLR2A	chr20:1206048-1206329	HCT-116	colon:	n/a	n/a
5	POLR2A	chr20:1206053-1206303	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr20:1206063-1206328	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:1205987-1206404	H1-neurons	neurons:	n/a	n/a
8	ZBTB7A	chr20:1206270-1206480	K562	blood:	n/a	n/a
9	POLR2A	chr20:1206077-1206368	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr20:1205924-1206331	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:1206134-1206288	A549	lung:	n/a	n/a
12	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
13	POLR2A	chr20:1206118-1206322	K562	blood:	n/a	n/a
14	POLR2A	chr20:1206105-1206293	A549	lung:	n/a	n/a
15	POLR2A	chr20:1205839-1206387	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr20:1206156-1206294	MCF-7	breast:	n/a	n/a
17	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
18	UBTF	chr20:1205999-1206294	K562	blood:	n/a	n/a
19	POLR2A	chr20:1206106-1206323	Gliobla	brain:	n/a	n/a
20	POLR2A	chr20:1206064-1206296	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr20:1206026-1206332	HCT-116	colon:	n/a	n/a
22	TAF1	chr20:1206037-1206287	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr20:1206003-1206296	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr20:1206127-1206300	A549	lung:	n/a	n/a
25	ZNF263	chr20:1205973-1206284	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1206255-1206305	HEK293	kidney:	embryo
2	chr20:1206255-1206305	AG10803	skin:	n/a
3	chr20:1206255-1206305	RPTEC	kidney:	n/a
4	chr20:1206255-1206305	HRPEpiC	eye:	n/a
5	chr20:1206255-1206305	GM12891	blood:	n/a
6	chr20:1206255-1206305	HepG2	liver:	n/a
7	chr20:1206255-1206305	GM12892	blood:	n/a
8	chr20:1206255-1206305	BE2_C	brain:	n/a
9	chr20:1206255-1206305	HNPCEpiC	eye:	n/a
10	chr20:1206255-1206305	HL-60	blood:	n/a
11	chr20:1206255-1206305	NB4	blood:	n/a
12	chr20:1206255-1206305	SK-N-SH_RA	brain:	n/a
13	chr20:1206255-1206305	HAEpiC	amniotic membrane:	n/a
14	chr20:1206255-1206305	MCF10A-Er-Src	breast:	n/a
15	chr20:1206255-1206305	HCM	heart:	n/a
16	chr20:1206255-1206305	A549	lung:	n/a
17	chr20:1206255-1206305	HIPEpiC	eye:	n/a
18	chr20:1206255-1206305	HEEpiC	esophagus:	n/a
19	chr20:1206255-1206305	IMR90	lung:	fetal
20	chr20:1206255-1206305	NH-A	brain:	n/a
21	chr20:1206255-1206305	H1-hESC	embryonic stem cell:	embryo
22	chr20:1206255-1206305	HRCEpiC	kidney:	n/a
23	chr20:1206255-1206305	Hepatocyte	liver:	n/a
24	chr20:1206255-1206305	GM19239	blood:	n/a
25	chr20:1206255-1206305	NHBE	bronchial:	n/a
26	chr20:1206255-1206305	LNCaP	prostate:	n/a
27	chr20:1206255-1206305	ECC-1	luminal epithelium:	n/a
28	chr20:1206255-1206305	HCT-116	colon:	n/a
29	chr20:1206255-1206305	AG04449	skin:	fetal
30	chr20:1206255-1206305	SK-N-MC	brain:	n/a
31	chr20:1206255-1206305	HCF	heart:	n/a
32	chr20:1206255-1206305	HUVEC	blood vessel:	n/a
33	chr20:1206255-1206305	SKMC	muscle:	n/a
34	chr20:1206255-1206305	AG09309	skin:	n/a
35	chr20:1206255-1206305	K562	blood:	n/a
36	chr20:1206255-1206305	AG09319	gingival:	n/a
37	chr20:1206255-1206305	HCPEpiC	choroid plexus:	n/a
38	chr20:1206255-1206305	Hela-S3	cervix:	n/a
39	chr20:1206255-1206305	AoSMC	blood vessel:	n/a
40	chr20:1206255-1206305	Caco-2	colon:	n/a
41	chr20:1206255-1206305	HRE	kidney:	n/a
42	chr20:1206255-1206305	PANC-1	pancreas:	n/a
43	chr20:1206255-1206305	PFSK-1	brain:	n/a
44	chr20:1206255-1206305	PrEC	prostate:	n/a
45	chr20:1206255-1206305	ovcar-3	ovarian:	n/a
46	chr20:1206255-1206305	SAEC	small airway:	n/a
47	chr20:1206255-1206305	CMK	blood:	n/a
48	chr20:1206255-1206305	HPAEpiC	pulmonary alveolar:	n/a
49	chr20:1206255-1206305	GM12878	blood:	n/a
50	chr20:1206255-1206305	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs203537	0.90[ASN][1000 genomes]
rs203538	0.86[ASN][1000 genomes]
rs203542	0.87[ASN][1000 genomes]
rs203543	0.90[ASN][1000 genomes]
rs203544	0.90[ASN][1000 genomes]
rs203545	0.90[ASN][1000 genomes]
rs203546	0.90[ASN][1000 genomes]
rs203547	0.88[ASN][1000 genomes]
rs203548	0.90[ASN][1000 genomes]
rs203549	0.90[ASN][1000 genomes]
rs203550	0.90[ASN][1000 genomes]
rs396004	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397020	0.92[ASN][1000 genomes]
rs430731	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3435944	chr20:1206002-1207250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1206800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
2	chr20:1205800-1207000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr20:1205800-1207000	Active TSS	A549	lung
4	chr20:1205800-1207200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr20:1205800-1207400	Active TSS	Primary T cells from cord blood	blood
6	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
12	chr20:1206000-1206400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:1206000-1206400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:1206000-1206400	Flanking Active TSS	Pancreas	Pancrea
15	chr20:1206000-1206600	Active TSS	Right Atrium	heart
16	chr20:1206000-1206800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:1206000-1206800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr20:1206000-1206800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
19	chr20:1206000-1206800	Active TSS	Primary B cells from peripheral blood	blood
20	chr20:1206000-1206800	Active TSS	Primary hematopoietic stem cells	blood
21	chr20:1206000-1206800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr20:1206000-1206800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:1206000-1206800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr20:1206000-1206800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr20:1206000-1206800	Enhancers	Liver	Liver
26	chr20:1206000-1206800	Active TSS	Duodenum Mucosa	Duodenum
27	chr20:1206000-1206800	Active TSS	Fetal Intestine Large	intestine
28	chr20:1206000-1206800	Active TSS	Left Ventricle	heart
29	chr20:1206000-1206800	Active TSS	Lung	lung
30	chr20:1206000-1206800	Active TSS	Rectal Smooth Muscle	rectum
31	chr20:1206000-1206800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr20:1206000-1206800	Bivalent/Poised TSS	Thymus	Thymus
33	chr20:1206000-1206800	Active TSS	HMEC	breast
34	chr20:1206000-1206800	Active TSS	HSMM	muscle
35	chr20:1206000-1206800	Active TSS	HSMMtube	muscle
36	chr20:1206000-1206800	Active TSS	Osteobl	bone
37	chr20:1206000-1207000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr20:1206000-1207000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr20:1206000-1207000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:1206000-1207000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr20:1206000-1207000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr20:1206000-1207000	Active TSS	NH-A	brain
43	chr20:1206000-1207200	Active TSS	Brain Hippocampus Middle	brain
44	chr20:1206000-1207200	Active TSS	Esophagus	oesophagus
45	chr20:1206000-1207400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr20:1206000-1207400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr20:1206000-1207400	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr20:1206000-1207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr20:1206000-1207600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:1206000-1207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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