Variant report

Variant	rs397516996
Chromosome Location	chr12:33049652-33049653
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:33049622-33049746	HepG2	liver:	n/a	chr12:33049727-33049740
2	POLR2A	chr12:33049256-33050484	HepG2	liver:	n/a	n/a
3	MAX	chr12:33049187-33050429	HepG2	liver:	n/a	chr12:33049858-33049868
4	ZEB1	chr12:33049477-33050489	HepG2	liver:	n/a	chr12:33050124-33050131
5	POLR2A	chr12:33049405-33050390	K562	blood:	n/a	n/a
6	POLR2A	chr12:33049485-33050284	HCT-116	colon:	n/a	n/a
7	HDAC2	chr12:33049512-33049880	HepG2	liver:	n/a	n/a
8	USF1	chr12:33049615-33050368	ECC-1	luminal epithelium:	n/a	chr12:33049870-33049886
9	POLR2A	chr12:33049600-33049710	A549	lung:	n/a	n/a
10	MAX	chr12:33049290-33050203	HepG2	liver:	n/a	chr12:33049858-33049868
11	POLR2A	chr12:33049320-33050276	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:33049451-33049825	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr12:33049251-33050274	HepG2	liver:	n/a	n/a
14	HEY1	chr12:33049399-33050374	HepG2	liver:	n/a	chr12:33050037-33050052 chr12:33049867-33049882 chr12:33049740-33049755 chr12:33049869-33049884
15	RFX5	chr12:33049553-33050426	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:33049360-33050289	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:33049325-33050507	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr12:33049304-33050201	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:33049278-33050451	Hela-S3	cervix:	n/a	n/a
20	REST	chr12:33049360-33049722	SK-N-SH	brain:	n/a	chr12:33049418-33049428
21	MAZ	chr12:33049462-33050266	K562	blood:	n/a	chr12:33049858-33049868
22	MAX	chr12:33049098-33050535	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
23	POLR2A	chr12:33049520-33050231	K562	blood:	n/a	n/a
24	MAZ	chr12:33049362-33050379	Hela-S3	cervix:	n/a	chr12:33049858-33049868
25	POLR2A	chr12:33049414-33049779	A549	lung:	n/a	n/a
26	TFAP2C	chr12:33049497-33050565	Hela-S3	cervix:	n/a	chr12:33050112-33050127
27	MAZ	chr12:33049497-33050276	HepG2	liver:	n/a	chr12:33049858-33049868
28	TCF12	chr12:33049220-33050504	ECC-1	luminal epithelium:	n/a	chr12:33049943-33049950
29	MAX	chr12:33049220-33050318	K562	blood:	n/a	chr12:33049858-33049868
30	MAX	chr12:33049250-33050249	K562	blood:	n/a	chr12:33049858-33049868
31	E2F6	chr12:33049239-33050245	K562	blood:	n/a	chr12:33049863-33049872 chr12:33049412-33049422
32	POLR2A	chr12:33049504-33050140	A549	lung:	n/a	n/a
33	ZBTB7A	chr12:33048568-33050411	ECC-1	luminal epithelium:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
34	REST	chr12:33049437-33049738	PANC-1	pancreas:	n/a	n/a
35	REST	chr12:33049474-33049652	PFSK-1	brain:	n/a	n/a
36	MAX	chr12:33049603-33050531	HCT-116	colon:	n/a	chr12:33049858-33049868
37	TAF1	chr12:33049295-33050627	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr12:33049526-33049775	HepG2	liver:	n/a	n/a
39	MXI1	chr12:33049286-33050298	HepG2	liver:	n/a	n/a
40	MAX	chr12:33049601-33050425	HepG2	liver:	n/a	chr12:33049858-33049868
41	SIN3A	chr12:33048615-33050382	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr12:33049497-33050619	Hela-S3	cervix:	n/a	n/a
43	SIN3AK20	chr12:33049269-33049739	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZBTB7A	chr12:33049117-33050423	ECC-1	luminal epithelium:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
45	REST	chr12:33049403-33049717	H1-hESC	embryonic stem cell:	n/a	chr12:33049418-33049428
46	SMARCB1	chr12:33048639-33050344	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:33049495-33049947	ProgFib	skin:	n/a	n/a
48	HMGN3	chr12:33049432-33050148	K562	blood:	n/a	n/a
49	MAX	chr12:33049071-33050520	A549	lung:	n/a	chr12:33049858-33049868
50	ZBTB7A	chr12:33049387-33050186	K562	blood:	n/a	chr12:33049862-33049871 chr12:33049732-33049741

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:33049650-33049700	HCF	heart:	n/a
2	chr12:33049650-33049700	Caco-2	colon:	n/a
3	chr12:33049620-33049670	SKMC	muscle:	n/a
4	chr12:33049620-33049670	SAEC	small airway:	n/a
5	chr12:33049650-33049700	HepG2	liver:	n/a
6	chr12:33049650-33049700	HRPEpiC	eye:	n/a
7	chr12:33049650-33049700	AG10803	skin:	n/a
8	chr12:33049620-33049670	HCM	heart:	n/a
9	chr12:33049650-33049700	SAEC	small airway:	n/a
10	chr12:33049620-33049670	HIPEpiC	eye:	n/a
11	chr12:33049650-33049700	RPTEC	kidney:	n/a
12	chr12:33049650-33049700	GM19239	blood:	n/a
13	chr12:33049620-33049670	Hela-S3	cervix:	n/a
14	chr12:33049650-33049700	PrEC	prostate:	n/a
15	chr12:33049650-33049700	HEK293	kidney:	embryo
16	chr12:33049650-33049700	H1-hESC	embryonic stem cell:	embryo
17	chr12:33049650-33049700	HCM	heart:	n/a
18	chr12:33049620-33049670	HCPEpiC	choroid plexus:	n/a
19	chr12:33049620-33049670	A549	lung:	n/a
20	chr12:33049620-33049670	SK-N-MC	brain:	n/a
21	chr12:33049650-33049700	GM12878	blood:	n/a
22	chr12:33049650-33049700	HEEpiC	esophagus:	n/a
23	chr12:33049650-33049700	SK-N-SH	brain:	n/a
24	chr12:33049650-33049700	Hepatocyte	liver:	n/a
25	chr12:33049620-33049670	BJ	skin:	n/a
26	chr12:33049620-33049670	GM19239	blood:	n/a
27	chr12:33049650-33049700	HIPEpiC	eye:	n/a
28	chr12:33049620-33049670	HCF	heart:	n/a
29	chr12:33049620-33049670	PANC-1	pancreas:	n/a
30	chr12:33049650-33049700	AG04449	skin:	fetal
31	chr12:33049620-33049670	HCT-116	colon:	n/a
32	chr12:33049650-33049700	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:33049650-33049700	GM06990	blood:	n/a
34	chr12:33049650-33049700	GM12892	blood:	n/a
35	chr12:33049620-33049670	IMR90	lung:	fetal
36	chr12:33049620-33049670	AG10803	skin:	n/a
37	chr12:33049650-33049700	HRE	kidney:	n/a
38	chr12:33049620-33049670	HNPCEpiC	eye:	n/a
39	chr12:33049650-33049700	ovcar-3	ovarian:	n/a
40	chr12:33049650-33049700	Hela-S3	cervix:	n/a
41	chr12:33049620-33049670	HepG2	liver:	n/a
42	chr12:33049620-33049670	HUVEC	blood vessel:	n/a
43	chr12:33049650-33049700	PANC-1	pancreas:	n/a
44	chr12:33049620-33049670	NB4	blood:	n/a
45	chr12:33049650-33049700	U87	brain:	n/a
46	chr12:33049620-33049670	AG09309	skin:	n/a
47	chr12:33049620-33049670	HEEpiC	esophagus:	n/a
48	chr12:33049620-33049670	AoSMC	blood vessel:	n/a
49	chr12:33049650-33049700	Jurkat	blood:	n/a
50	chr12:33049620-33049670	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:33049597..33050305-chr19:6424445..6424971,2	HCT-116	colon:
2	chr12:33049077..33050069-chr16:2317510..2318347,2	Hela-S3	cervix:
3	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
4	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:
5	chr12:33049643..33050326-chr7:2393292..2394114,2	Hela-S3	cervix:

Variant related genes	Relation type
PKP2	TF binding region
PKP2	CpG island
ENSG00000106263	Chromatin interaction
ENSG00000139131	Chromatin interaction
ENSG00000088247	Chromatin interaction
ENSG00000207715	Chromatin interaction
ENSG00000260778	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000106266	Chromatin interaction
ENSG00000205937	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:116 , 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	chr12:33047400-33050000	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:33047400-33050200	Active TSS	Stomach Mucosa	stomach
9	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
10	chr12:33047800-33050200	Active TSS	HMEC	breast
11	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:33048200-33050600	Active TSS	Ovary	ovary
14	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:33048400-33050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:33048400-33050000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:33048400-33050200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:33048400-33050200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr12:33048400-33050400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:33048400-33050400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:33048400-33050400	Active TSS	Fetal Intestine Small	intestine
22	chr12:33048400-33050600	Active TSS	Fetal Kidney	kidney
23	chr12:33048400-33050600	Bivalent/Poised TSS	Thymus	Thymus
24	chr12:33048400-33051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:33048600-33049800	Active TSS	Psoas Muscle	Psoas
26	chr12:33048600-33050000	Active TSS	Gastric	stomach
27	chr12:33048600-33050200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:33048600-33050200	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr12:33048600-33050200	Active TSS	NHEK	skin
30	chr12:33048600-33050400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:33048600-33050400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:33048600-33050400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:33048600-33050400	Bivalent/Poised TSS	Left Ventricle	heart
34	chr12:33048800-33050000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:33048800-33050000	Active TSS	Brain Substantia Nigra	brain
36	chr12:33048800-33050200	Active TSS	Primary T cells from cord blood	blood
37	chr12:33048800-33050600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:33048800-33050600	Active TSS	A549	lung
39	chr12:33048800-33050800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr12:33049000-33050000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chr12:33049000-33050000	Active TSS	K562	blood
42	chr12:33049000-33050200	Active TSS	Colon Smooth Muscle	Colon
43	chr12:33049000-33050200	Active TSS	HSMMtube	muscle
44	chr12:33049000-33050400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:33049000-33050400	Active TSS	Brain Anterior Caudate	brain
46	chr12:33049000-33050400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:33049000-33050400	Bivalent/Poised TSS	NH-A	brain
48	chr12:33049000-33050600	Active TSS	Fetal Brain Female	brain
49	chr12:33049000-33050800	Active TSS	Pancreas	Pancrea
50	chr12:33049000-33051000	Active TSS	Duodenum Smooth Muscle	Duodenum

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