Variant report

Variant	rs377175935
Chromosome Location	chr20:1206857-1206858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr20:1206740-1207030	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr20:1206545-1207326	K562	blood:	n/a	n/a
3	RCOR1	chr20:1206673-1206981	K562	blood:	n/a	n/a
4	MAX	chr20:1206410-1207808	A549	lung:	n/a	chr20:1207386-1207395
5	ELK1	chr20:1206806-1206917	K562	blood:	n/a	n/a
6	MAX	chr20:1206472-1207693	A549	lung:	n/a	chr20:1207386-1207395
7	TAF1	chr20:1206619-1206916	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr20:1206600-1207058	HUVEC	blood vessel:	n/a	n/a
9	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
10	SMC3	chr20:1206798-1206918	K562	blood:	n/a	n/a
11	MAX	chr20:1206616-1207074	A549	lung:	n/a	n/a
12	ELF1	chr20:1206741-1207310	GM12878	blood:	n/a	n/a
13	E2F6	chr20:1206584-1207067	K562	blood:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
14	YY1	chr20:1206822-1207082	K562	blood:	n/a	chr20:1206872-1206886 chr20:1206846-1206855 chr20:1206875-1206889
15	NFIC	chr20:1206557-1206958	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr20:1206452-1206903	MCF-7	breast:	n/a	n/a
17	PML	chr20:1206612-1206865	K562	blood:	n/a	n/a
18	HA-E2F1	chr20:1206682-1207201	MCF-7	breast:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
19	BACH1	chr20:1206692-1207487	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZBTB7A	chr20:1206549-1207438	ECC-1	luminal epithelium:	n/a	n/a
21	JUND	chr20:1206672-1206909	K562	blood:	n/a	n/a
22	MAX	chr20:1206657-1206883	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr20:1206625-1207032	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr20:1206554-1206948	K562	blood:	n/a	n/a
25	MAX	chr20:1206633-1207627	K562	blood:	n/a	chr20:1207386-1207395
26	HMGN3	chr20:1206678-1207310	K562	blood:	n/a	n/a
27	MAX	chr20:1206511-1207385	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr20:1206576-1207091	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr20:1206503-1207364	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr20:1206571-1207211	K562	blood:	n/a	chr20:1206872-1206886 chr20:1206846-1206855 chr20:1206875-1206889
31	MAX	chr20:1206472-1207137	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
33	POLR2A	chr20:1206591-1207054	HUVEC	blood vessel:	n/a	n/a
34	E2F6	chr20:1206580-1207383	H1-hESC	embryonic stem cell:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
35	POLR2A	chr20:1206630-1206874	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr20:1206579-1207319	H1-hESC	embryonic stem cell:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
37	MAX	chr20:1206548-1207343	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr20:1206625-1206927	A549	lung:	n/a	n/a
39	POLR2A	chr20:1206593-1207004	K562	blood:	n/a	n/a
40	CREB1	chr20:1206599-1206982	A549	lung:	n/a	n/a
41	POLR2A	chr20:1206624-1206871	MCF-7	breast:	n/a	n/a
42	POLR2A	chr20:1206525-1207200	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr20:1206681-1206949	K562	blood:	n/a	n/a
44	POLR2A	chr20:1206581-1206939	HCT-116	colon:	n/a	n/a
45	CCNT2	chr20:1206635-1207632	K562	blood:	n/a	n/a
46	POLR2A	chr20:1206555-1207002	HUVEC	blood vessel:	n/a	n/a
47	TBP	chr20:1206576-1206958	K562	blood:	n/a	n/a
48	POLR2A	chr20:1206494-1207387	Gliobla	brain:	n/a	n/a
49	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
50	POLR2A	chr20:1206565-1207206	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1206830-1206880	HUVEC	blood vessel:	n/a
2	chr20:1206830-1206880	ovcar-3	ovarian:	n/a
3	chr20:1206830-1206880	HCF	heart:	n/a
4	chr20:1206830-1206880	HRE	kidney:	n/a
5	chr20:1206830-1206880	K562	blood:	n/a
6	chr20:1206830-1206880	U87	brain:	n/a
7	chr20:1206830-1206880	BE2_C	brain:	n/a
8	chr20:1206830-1206880	NB4	blood:	n/a
9	chr20:1206830-1206880	NHDF-neo	bronchial:	n/a
10	chr20:1206830-1206880	HRPEpiC	eye:	n/a
11	chr20:1206830-1206880	SK-N-SH_RA	brain:	n/a
12	chr20:1206830-1206880	HMEC	breast:	n/a
13	chr20:1206830-1206880	BJ	skin:	n/a
14	chr20:1206830-1206880	IMR90	lung:	fetal
15	chr20:1206830-1206880	HNPCEpiC	eye:	n/a
16	chr20:1206830-1206880	SK-N-MC	brain:	n/a
17	chr20:1206830-1206880	Jurkat	blood:	n/a
18	chr20:1206830-1206880	HEK293	kidney:	embryo
19	chr20:1206830-1206880	Caco-2	colon:	n/a
20	chr20:1206830-1206880	MCF10A-Er-Src	breast:	n/a
21	chr20:1206830-1206880	HepG2	liver:	n/a
22	chr20:1206830-1206880	Hepatocyte	liver:	n/a
23	chr20:1206830-1206880	AG09319	gingival:	n/a
24	chr20:1206830-1206880	NT2-D1	testis:	n/a
25	chr20:1206830-1206880	HAEpiC	amniotic membrane:	n/a
26	chr20:1206830-1206880	ProgFib	skin:	n/a
27	chr20:1206830-1206880	RPTEC	kidney:	n/a
28	chr20:1206830-1206880	HCPEpiC	choroid plexus:	n/a
29	chr20:1206830-1206880	LNCaP	prostate:	n/a
30	chr20:1206830-1206880	CMK	blood:	n/a
31	chr20:1206830-1206880	HPAEpiC	pulmonary alveolar:	n/a
32	chr20:1206830-1206880	HCM	heart:	n/a
33	chr20:1206830-1206880	HCT-116	colon:	n/a
34	chr20:1206830-1206880	AG10803	skin:	n/a
35	chr20:1206830-1206880	H1-hESC	embryonic stem cell:	embryo
36	chr20:1206830-1206880	T-47D	breast:	n/a
37	chr20:1206830-1206880	PANC-1	pancreas:	n/a
38	chr20:1206830-1206880	GM12891	blood:	n/a
39	chr20:1206830-1206880	HRCEpiC	kidney:	n/a
40	chr20:1206830-1206880	AG04450	lung:	fetal
41	chr20:1206830-1206880	AG09309	skin:	n/a
42	chr20:1206830-1206880	NH-A	brain:	n/a
43	chr20:1206830-1206880	NHBE	bronchial:	n/a
44	chr20:1206830-1206880	ECC-1	luminal epithelium:	n/a
45	chr20:1206830-1206880	GM06990	blood:	n/a
46	chr20:1206830-1206880	GM12878	blood:	n/a
47	chr20:1206830-1206880	AG04449	skin:	fetal
48	chr20:1206830-1206880	PFSK-1	brain:	n/a
49	chr20:1206830-1206880	SK-N-SH	brain:	n/a
50	chr20:1206830-1206880	A549	lung:	n/a

(count:4 , 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	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1207000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr20:1205800-1207000	Active TSS	A549	lung
3	chr20:1205800-1207200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr20:1205800-1207400	Active TSS	Primary T cells from cord blood	blood
5	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
11	chr20:1206000-1207000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr20:1206000-1207000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:1206000-1207000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:1206000-1207000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr20:1206000-1207000	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr20:1206000-1207000	Active TSS	NH-A	brain
17	chr20:1206000-1207200	Active TSS	Brain Hippocampus Middle	brain
18	chr20:1206000-1207200	Active TSS	Esophagus	oesophagus
19	chr20:1206000-1207400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr20:1206000-1207400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr20:1206000-1207400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr20:1206000-1207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:1206000-1207600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:1206000-1207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr20:1206000-1207600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr20:1206000-1207600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:1206000-1207600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:1206000-1207600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:1206000-1207600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr20:1206000-1207600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:1206000-1207600	Active TSS	Right Ventricle	heart
32	chr20:1206000-1207600	Active TSS	Hela-S3	cervix
33	chr20:1206000-1207600	Active TSS	NHDF-Ad	bronchial
34	chr20:1206000-1207800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr20:1206000-1207800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr20:1206000-1207800	Active TSS	Brain Anterior Caudate	brain
37	chr20:1206000-1207800	Active TSS	Psoas Muscle	Psoas
38	chr20:1206000-1207800	Bivalent/Poised TSS	NHEK	skin
39	chr20:1206000-1208000	Enhancers	Spleen	Spleen
40	chr20:1206000-1208000	Active TSS	K562	blood
41	chr20:1206200-1207000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:1206200-1207000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr20:1206200-1207000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr20:1206200-1207000	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr20:1206200-1207000	Active TSS	Fetal Intestine Small	intestine
46	chr20:1206200-1207000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr20:1206200-1207200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:1206200-1207200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr20:1206200-1207200	Active TSS	Small Intestine	intestine
50	chr20:1206200-1207400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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