Variant report

Variant	rs537733797
Chromosome Location	chr18:12656949-12656950
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr18:12656487-12659001	H1-neurons	neurons:	n/a	chr18:12657226-12657239 chr18:12657214-12657227 chr18:12657237-12657257 chr18:12657223-12657232 chr18:12657237-12657257 chr18:12657238-12657256 chr18:12657344-12657357
2	MYC	chr18:12656805-12658259	K562	blood:	n/a	n/a
3	RAD21	chr18:12656708-12658245	IMR90	lung:	n/a	chr18:12658035-12658047
4	ZNF263	chr18:12656649-12657394	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr18:12656702-12657406	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr18:12656814-12657346	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr18:12656871-12657507	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr18:12656878-12657173	K562	blood:	n/a	n/a
9	MAX	chr18:12656882-12658588	SK-N-SH	brain:	n/a	chr18:12658406-12658415
10	TAF1	chr18:12656890-12658119	H1-neurons	neurons:	n/a	n/a
11	ZKSCAN1	chr18:12656828-12657338	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr18:12656888-12657383	PANC-1	pancreas:	n/a	n/a
13	SMC3	chr18:12656743-12657412	Hela-S3	cervix:	n/a	n/a
14	SIN3A	chr18:12656858-12657334	H1-hESC	embryonic stem cell:	n/a	chr18:12657223-12657236
15	CEBPB	chr18:12656641-12657030	Hela-S3	cervix:	n/a	n/a
16	EP300	chr18:12656686-12657231	K562	blood:	n/a	n/a
17	JUN	chr18:12656614-12657012	HUVEC	blood vessel:	n/a	chr18:12656785-12656798 chr18:12656789-12656798
18	MAX	chr18:12656888-12657491	A549	lung:	n/a	n/a
19	JUND	chr18:12656610-12656980	HepG2	liver:	n/a	chr18:12656789-12656798
20	MAX	chr18:12656867-12658509	ECC-1	luminal epithelium:	n/a	chr18:12658406-12658415
21	MAX	chr18:12656928-12658839	MCF-7	breast:	n/a	chr18:12658406-12658415
22	MAX	chr18:12656924-12658481	HepG2	liver:	n/a	chr18:12658406-12658415
23	CEBPB	chr18:12656640-12656957	K562	blood:	n/a	n/a
24	POLR2A	chr18:12656884-12657187	K562	blood:	n/a	n/a
25	SMARCB1	chr18:12656949-12658763	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr18:12656925-12658239	K562	blood:	n/a	n/a
27	POLR2A	chr18:12656936-12657403	HepG2	liver:	n/a	n/a
28	MAX	chr18:12656931-12658369	K562	blood:	n/a	n/a
29	JUN	chr18:12656646-12656968	HepG2	liver:	n/a	chr18:12656785-12656798 chr18:12656789-12656798
30	MYC	chr18:12656916-12658253	K562	blood:	n/a	n/a
31	POLR2A	chr18:12656590-12658487	H1-neurons	neurons:	n/a	n/a
32	MAZ	chr18:12656513-12658995	IMR90	lung:	n/a	chr18:12658406-12658415
33	BRCA1	chr18:12656608-12656967	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr18:12656943-12657199	K562	blood:	n/a	n/a
35	MAX	chr18:12656902-12657416	A549	lung:	n/a	n/a
36	POLR2A	chr18:12656573-12658206	IMR90	lung:	n/a	n/a
37	UBTF	chr18:12656689-12658059	K562	blood:	n/a	n/a
38	POLR2A	chr18:12656835-12657419	HUVEC	blood vessel:	n/a	n/a
39	E2F4	chr18:12656890-12657054	MCF10A-Er-Src	breast:	n/a	n/a
40	TBL1XR1	chr18:12656681-12657110	K562	blood:	n/a	n/a
41	JUND	chr18:12656665-12657310	K562	blood:	n/a	chr18:12656789-12656798
42	SIN3AK20	chr18:12656909-12657394	SK-N-SH	brain:	n/a	n/a
43	UBTF	chr18:12656903-12658147	K562	blood:	n/a	n/a
44	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
45	CEBPB	chr18:12656689-12656975	IMR90	lung:	n/a	n/a
46	POLR2A	chr18:12656761-12658477	H1-neurons	neurons:	n/a	n/a
47	MAX	chr18:12656897-12658519	HepG2	liver:	n/a	chr18:12658406-12658415
48	HDAC2	chr18:12656917-12657358	MCF-7	breast:	n/a	chr18:12657238-12657257
49	MAZ	chr18:12656933-12658367	K562	blood:	n/a	n/a
50	BACH1	chr18:12656832-12657146	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12656910-12656960	ovcar-3	ovarian:	n/a
2	chr18:12656910-12656960	SK-N-SH	brain:	n/a
3	chr18:12656910-12656960	HMEC	breast:	n/a
4	chr18:12656910-12656960	IMR90	lung:	fetal
5	chr18:12656910-12656960	HCT-116	colon:	n/a
6	chr18:12656910-12656960	HPAEpiC	pulmonary alveolar:	n/a
7	chr18:12656910-12656960	AG10803	skin:	n/a
8	chr18:12656910-12656960	MCF10A-Er-Src	breast:	n/a
9	chr18:12656910-12656960	Jurkat	blood:	n/a
10	chr18:12656910-12656960	HCM	heart:	n/a
11	chr18:12656910-12656960	NB4	blood:	n/a
12	chr18:12656910-12656960	BJ	skin:	n/a
13	chr18:12656910-12656960	LNCaP	prostate:	n/a
14	chr18:12656910-12656960	ECC-1	luminal epithelium:	n/a
15	chr18:12656910-12656960	Hepatocyte	liver:	n/a
16	chr18:12656910-12656960	HCF	heart:	n/a
17	chr18:12656910-12656960	AG04450	lung:	fetal
18	chr18:12656910-12656960	SAEC	small airway:	n/a
19	chr18:12656910-12656960	SKMC	muscle:	n/a
20	chr18:12656910-12656960	HepG2	liver:	n/a
21	chr18:12656910-12656960	MCF-7	breast:	n/a
22	chr18:12656910-12656960	HUVEC	blood vessel:	n/a
23	chr18:12656910-12656960	CMK	blood:	n/a
24	chr18:12656910-12656960	SK-N-MC	brain:	n/a
25	chr18:12656910-12656960	AG09309	skin:	n/a
26	chr18:12656910-12656960	HRPEpiC	eye:	n/a
27	chr18:12656910-12656960	ProgFib	skin:	n/a
28	chr18:12656910-12656960	Hela-S3	cervix:	n/a
29	chr18:12656910-12656960	GM06990	blood:	n/a
30	chr18:12656910-12656960	HEEpiC	esophagus:	n/a
31	chr18:12656910-12656960	BE2_C	brain:	n/a
32	chr18:12656910-12656960	GM12891	blood:	n/a
33	chr18:12656910-12656960	RPTEC	kidney:	n/a
34	chr18:12656910-12656960	AG09319	gingival:	n/a
35	chr18:12656910-12656960	T-47D	breast:	n/a
36	chr18:12656910-12656960	GM12878	blood:	n/a
37	chr18:12656910-12656960	HRCEpiC	kidney:	n/a
38	chr18:12656910-12656960	GM19239	blood:	n/a
39	chr18:12656910-12656960	HRE	kidney:	n/a
40	chr18:12656910-12656960	HCPEpiC	choroid plexus:	n/a
41	chr18:12656910-12656960	PFSK-1	brain:	n/a
42	chr18:12656910-12656960	H1-hESC	embryonic stem cell:	embryo
43	chr18:12656910-12656960	Caco-2	colon:	n/a
44	chr18:12656910-12656960	NT2-D1	testis:	n/a
45	chr18:12656910-12656960	GM12892	blood:	n/a
46	chr18:12656910-12656960	K562	blood:	n/a
47	chr18:12656910-12656960	PANC-1	pancreas:	n/a
48	chr18:12656910-12656960	HEK293	kidney:	embryo
49	chr18:12656910-12656960	A549	lung:	n/a
50	chr18:12656910-12656960	NHBE	bronchial:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
2	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
3	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
4	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
5	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
6	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
7	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
8	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
9	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
10	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
11	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
12	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:

No data

Variant related genes	Relation type
PSMG2	TF binding region
ENSG00000215527	TF binding region
SPIRE1	TF binding region
SPIRE1	CpG island
PSMG2	CpG island
ENSG00000215527	CpG island
ENSG00000141391	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000267199	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers 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	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers 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	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS 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	11 gene(s)	inside rSNPs	diseases
11	nsv576497	chr18:12650900-12658293	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv576498	chr18:12650900-12658436	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3436179	chr18:12655852-12660050	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv3323207	chr18:12656377-12658925	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv3424423	chr18:12656602-12659250	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:12653200-12657000	Weak transcription	Spleen	Spleen
5	chr18:12653400-12657000	Weak transcription	Pancreas	Pancrea
6	chr18:12653400-12657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:12653800-12670400	Weak transcription	Dnd41	blood
8	chr18:12655400-12657200	Active TSS	Fetal Brain Male	brain
9	chr18:12655400-12657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
12	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
14	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
16	chr18:12655800-12659000	Active TSS	NHLF	lung
17	chr18:12656000-12657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:12656000-12658600	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr18:12656000-12658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12656000-12658600	Active TSS	HepG2	liver
21	chr18:12656000-12658600	Active TSS	NH-A	brain
22	chr18:12656000-12658600	Active TSS	NHEK	skin
23	chr18:12656000-12658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:12656000-12659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:12656000-12659000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:12656000-12659000	Active TSS	HSMM	muscle
27	chr18:12656000-12659200	Active TSS	HSMMtube	muscle
28	chr18:12656200-12658000	Active TSS	K562	blood
29	chr18:12656200-12659400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr18:12656400-12657000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:12656400-12657000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr18:12656400-12657000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr18:12656400-12657400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr18:12656400-12658600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:12656400-12658600	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr18:12656400-12658600	Active TSS	HMEC	breast
37	chr18:12656400-12658800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:12656400-12658800	Active TSS	NHDF-Ad	bronchial
39	chr18:12656400-12659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:12656400-12659000	Active TSS	Stomach Smooth Muscle	stomach
41	chr18:12656400-12659000	Active TSS	A549	lung
42	chr18:12656600-12657000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr18:12656600-12657000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr18:12656600-12657000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr18:12656600-12657000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr18:12656600-12657000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
47	chr18:12656600-12657000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr18:12656600-12657000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr18:12656600-12657000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:12656600-12657000	Flanking Active TSS	Colon Smooth Muscle	Colon

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