Variant report

Variant	rs73090789
Chromosome Location	chr12:33050174-33050175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZKSCAN1	chr12:33049882-33050351	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr12:33049974-33050394	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:33049256-33050484	HepG2	liver:	n/a	n/a
4	TAF1	chr12:33049902-33050478	ECC-1	luminal epithelium:	n/a	n/a
5	RCOR1	chr12:33049923-33050439	K562	blood:	n/a	n/a
6	SIN3AK20	chr12:33049827-33050552	MCF-7	breast:	n/a	n/a
7	MAX	chr12:33049187-33050429	HepG2	liver:	n/a	chr12:33049858-33049868
8	ZEB1	chr12:33049477-33050489	HepG2	liver:	n/a	chr12:33050124-33050131
9	EP300	chr12:33049908-33050273	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:33049809-33050222	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:33049405-33050390	K562	blood:	n/a	n/a
12	POLR2A	chr12:33049485-33050284	HCT-116	colon:	n/a	n/a
13	USF1	chr12:33049615-33050368	ECC-1	luminal epithelium:	n/a	chr12:33049870-33049886
14	NFIC	chr12:33049689-33050557	ECC-1	luminal epithelium:	n/a	chr12:33050298-33050314
15	BACH1	chr12:33049894-33050256	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr12:33049290-33050203	HepG2	liver:	n/a	chr12:33049858-33049868
17	SIN3AK20	chr12:33049679-33050281	K562	blood:	n/a	n/a
18	ELF1	chr12:33049964-33050292	K562	blood:	n/a	n/a
19	ELF1	chr12:33049781-33050579	MCF-7	breast:	n/a	n/a
20	POLR2A	chr12:33049320-33050276	H1-hESC	embryonic stem cell:	n/a	n/a
21	E2F4	chr12:33049869-33050301	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr12:33049826-33050464	ECC-1	luminal epithelium:	n/a	n/a
23	TAF1	chr12:33049870-33050371	Hela-S3	cervix:	n/a	n/a
24	MYC	chr12:33049678-33050216	HepG2	liver:	n/a	chr12:33049858-33049868
25	MYC	chr12:33049803-33050294	MCF-7	breast:	n/a	chr12:33049858-33049868
26	TAF1	chr12:33049251-33050274	HepG2	liver:	n/a	n/a
27	HEY1	chr12:33049399-33050374	HepG2	liver:	n/a	chr12:33050037-33050052 chr12:33049867-33049882 chr12:33049740-33049755 chr12:33049869-33049884
28	CHD2	chr12:33050027-33050207	HepG2	liver:	n/a	n/a
29	RFX5	chr12:33049553-33050426	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:33049860-33050321	HepG2	liver:	n/a	n/a
31	YY1	chr12:33049896-33050338	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr12:33049360-33050289	MCF-7	breast:	n/a	n/a
33	KAP1	chr12:33049968-33051943	U2OS	brain:	n/a	n/a
34	TAF1	chr12:33049997-33050298	Hela-S3	cervix:	n/a	n/a
35	ZNF143	chr12:33050104-33050199	K562	blood:	n/a	n/a
36	POLR2A	chr12:33049325-33050507	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr12:33049675-33050537	ECC-1	luminal epithelium:	n/a	n/a
38	BRCA1	chr12:33050089-33050272	HepG2	liver:	n/a	n/a
39	FOS	chr12:33049993-33050413	MCF10A-Er-Src	breast:	n/a	n/a
40	TAF1	chr12:33049304-33050201	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:33049848-33050342	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr12:33049278-33050451	Hela-S3	cervix:	n/a	n/a
43	EP300	chr12:33049854-33050358	T-47D	breast:	n/a	n/a
44	REST	chr12:33049872-33050268	HepG2	liver:	n/a	chr12:33050049-33050062
45	MAZ	chr12:33049462-33050266	K562	blood:	n/a	chr12:33049858-33049868
46	MAX	chr12:33049098-33050535	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
47	POLR2A	chr12:33049520-33050231	K562	blood:	n/a	n/a
48	MAZ	chr12:33049362-33050379	Hela-S3	cervix:	n/a	chr12:33049858-33049868
49	MAX	chr12:33049717-33050578	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
50	RFX5	chr12:33050053-33050300	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:33050173-33050223	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:33050173-33050223	GM06990	blood:	n/a
3	chr12:33050173-33050223	LNCaP	prostate:	n/a
4	chr12:33050173-33050223	Jurkat	blood:	n/a
5	chr12:33050173-33050223	GM12878	blood:	n/a
6	chr12:33050173-33050223	HAEpiC	amniotic membrane:	n/a
7	chr12:33050173-33050223	HMEC	breast:	n/a
8	chr12:33050173-33050223	HCM	heart:	n/a
9	chr12:33050173-33050223	Hepatocyte	liver:	n/a
10	chr12:33050173-33050223	HCF	heart:	n/a
11	chr12:33050173-33050223	HNPCEpiC	eye:	n/a
12	chr12:33050173-33050223	PFSK-1	brain:	n/a
13	chr12:33050173-33050223	AoSMC	blood vessel:	n/a
14	chr12:33050173-33050223	K562	blood:	n/a
15	chr12:33050173-33050223	U87	brain:	n/a
16	chr12:33050173-33050223	SK-N-SH_RA	brain:	n/a
17	chr12:33050173-33050223	HL-60	blood:	n/a
18	chr12:33050173-33050223	IMR90	lung:	fetal
19	chr12:33050173-33050223	SAEC	small airway:	n/a
20	chr12:33050173-33050223	MCF-7	breast:	n/a
21	chr12:33050173-33050223	Hela-S3	cervix:	n/a
22	chr12:33050173-33050223	HCPEpiC	choroid plexus:	n/a
23	chr12:33050173-33050223	CMK	blood:	n/a
24	chr12:33050173-33050223	NB4	blood:	n/a
25	chr12:33050173-33050223	SKMC	muscle:	n/a
26	chr12:33050173-33050223	HEEpiC	esophagus:	n/a
27	chr12:33050173-33050223	AG09309	skin:	n/a
28	chr12:33050173-33050223	ovcar-3	ovarian:	n/a
29	chr12:33050173-33050223	ECC-1	luminal epithelium:	n/a
30	chr12:33050173-33050223	GM19239	blood:	n/a
31	chr12:33050173-33050223	PANC-1	pancreas:	n/a
32	chr12:33050173-33050223	RPTEC	kidney:	n/a
33	chr12:33050173-33050223	HUVEC	blood vessel:	n/a
34	chr12:33050173-33050223	NT2-D1	testis:	n/a
35	chr12:33050173-33050223	HRE	kidney:	n/a
36	chr12:33050173-33050223	MCF10A-Er-Src	breast:	n/a
37	chr12:33050173-33050223	NHBE	bronchial:	n/a
38	chr12:33050173-33050223	HRPEpiC	eye:	n/a
39	chr12:33050173-33050223	HIPEpiC	eye:	n/a
40	chr12:33050173-33050223	SK-N-SH	brain:	n/a
41	chr12:33050173-33050223	ProgFib	skin:	n/a
42	chr12:33050173-33050223	SK-N-MC	brain:	n/a
43	chr12:33050173-33050223	T-47D	breast:	n/a
44	chr12:33050173-33050223	GM12891	blood:	n/a
45	chr12:33050173-33050223	AG04450	lung:	fetal
46	chr12:33050173-33050223	GM12892	blood:	n/a
47	chr12:33050173-33050223	Caco-2	colon:	n/a
48	chr12:33050173-33050223	AG10803	skin:	n/a
49	chr12:33050173-33050223	NHDF-neo	bronchial:	n/a
50	chr12:33050173-33050223	BE2_C	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:60027892..60028588-chr12:33049924..33050500,2	Hela-S3	cervix:
2	chr12:33049597..33050305-chr19:6424445..6424971,2	HCT-116	colon:
3	chr12:33049986..33050843-chr19:40926643..40927147,2	Hela-S3	cervix:
4	chr12:33049999..33050545-chr15:74832724..74833489,2	Hela-S3	cervix:
5	chr12:33050014..33052233-chr12:33059225..33060757,2	MCF-7	breast:
6	chr12:33049705..33050388-chr22:43011186..43011805,2	Hela-S3	cervix:
7	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
8	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:
9	chr12:33049643..33050326-chr7:2393292..2394114,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PKP2	TF binding region
PKP2	CpG island
ENSG00000139131	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000106266	Chromatin interaction
ENSG00000088247	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000106263	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11615523	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425499	0.81[ASN][1000 genomes]
rs12821328	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12824411	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826797	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35263570	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35389088	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991895	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931657	1.00[ASN][1000 genomes]
rs61927260	0.81[ASN][1000 genomes]
rs61927261	0.81[ASN][1000 genomes]
rs6488099	0.88[ASN][1000 genomes]
rs7302851	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090787	0.81[ASN][1000 genomes]
rs73090802	0.81[ASN][1000 genomes]
rs73092408	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3436441	chr12:33048510-33051058	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33044600-33050600	Active TSS	Right Atrium	heart
2	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:33046800-33050600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:33047000-33050200	Active TSS	Duodenum Mucosa	Duodenum
5	chr12:33047200-33050400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33047200-33050400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:33047400-33050200	Active TSS	Stomach Mucosa	stomach
8	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
9	chr12:33047800-33050200	Active TSS	HMEC	breast
10	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
12	chr12:33048200-33050600	Active TSS	Ovary	ovary
13	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:33048400-33050200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:33048400-33050200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr12:33048400-33050400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:33048400-33050400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:33048400-33050400	Active TSS	Fetal Intestine Small	intestine
19	chr12:33048400-33050600	Active TSS	Fetal Kidney	kidney
20	chr12:33048400-33050600	Bivalent/Poised TSS	Thymus	Thymus
21	chr12:33048400-33051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:33048600-33050200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:33048600-33050200	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr12:33048600-33050200	Active TSS	NHEK	skin
25	chr12:33048600-33050400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:33048600-33050400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:33048600-33050400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:33048600-33050400	Bivalent/Poised TSS	Left Ventricle	heart
29	chr12:33048800-33050200	Active TSS	Primary T cells from cord blood	blood
30	chr12:33048800-33050600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:33048800-33050600	Active TSS	A549	lung
32	chr12:33048800-33050800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr12:33049000-33050200	Active TSS	Colon Smooth Muscle	Colon
34	chr12:33049000-33050200	Active TSS	HSMMtube	muscle
35	chr12:33049000-33050400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:33049000-33050400	Active TSS	Brain Anterior Caudate	brain
37	chr12:33049000-33050400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr12:33049000-33050400	Bivalent/Poised TSS	NH-A	brain
39	chr12:33049000-33050600	Active TSS	Fetal Brain Female	brain
40	chr12:33049000-33050800	Active TSS	Pancreas	Pancrea
41	chr12:33049000-33051000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:33049200-33050200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:33049200-33050200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr12:33049200-33050200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:33049200-33050200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:33049200-33050200	Active TSS	Aorta	Aorta
47	chr12:33049200-33050200	Active TSS	Hela-S3	cervix
48	chr12:33049200-33050200	Bivalent/Poised TSS	HSMM	muscle
49	chr12:33049200-33050400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:33049200-33050600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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