Variant report

Variant	rs573602071
Chromosome Location	chr12:123756350-123756351
allele	C/T
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	MYC	chr12:123754804-123756878	NB4	blood:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
2	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
3	HEY1	chr12:123756176-123756386	HepG2	liver:	n/a	chr12:123756369-123756384 chr12:123756305-123756320
4	YY1	chr12:123756222-123756481	GM12892	blood:	n/a	chr12:123756380-123756391
5	CTCF	chr12:123756320-123756470	AG04449	skin:	n/a	chr12:123756337-123756350
6	YY1	chr12:123755275-123756830	K562	blood:	n/a	chr12:123755547-123755558 chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
7	HA-E2F1	chr12:123755036-123756765	Hela-S3	cervix:	n/a	chr12:123756365-123756375 chr12:123756315-123756324 chr12:123756346-123756356 chr12:123756619-123756629 chr12:123756343-123756353 chr12:123755967-123755977
8	MYC	chr12:123756332-123756617	HepG2	liver:	n/a	n/a
9	YY1	chr12:123756123-123756910	ECC-1	luminal epithelium:	n/a	chr12:123756380-123756391
10	YY1	chr12:123756238-123756430	SK-N-SH	brain:	n/a	chr12:123756380-123756391
11	POLR2A	chr12:123756227-123756432	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:123755537-123757196	SK-N-SH	brain:	n/a	chr12:123755750-123755763 chr12:123756337-123756350
13	MXI1	chr12:123756250-123756406	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:123756303-123756770	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:123756096-123756566	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr12:123756231-123756449	K562	blood:	n/a	n/a
17	POLR2A	chr12:123756232-123757115	H1-hESC	embryonic stem cell:	n/a	n/a
18	ELF1	chr12:123756240-123756733	GM12878	blood:	n/a	chr12:123756383-123756395 chr12:123756344-123756356
19	POLR2A	chr12:123756208-123756751	MCF10A-Er-Src	breast:	n/a	n/a
20	TAF1	chr12:123756225-123756740	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:123756125-123756732	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr12:123756245-123756671	A549	lung:	n/a	n/a
23	POLR2A	chr12:123755735-123756742	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:123756289-123756400	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:123756273-123757175	HepG2	liver:	n/a	n/a
26	JUND	chr12:123756218-123756544	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr12:123756234-123756430	K562	blood:	n/a	chr12:123756369-123756384 chr12:123756378-123756393 chr12:123756305-123756320
28	POLR2A	chr12:123755228-123756651	NB4	blood:	n/a	n/a
29	POLR2A	chr12:123754858-123756691	GM15510	blood:	n/a	n/a
30	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
31	YY1	chr12:123756259-123756403	K562	blood:	n/a	chr12:123756380-123756391
32	TAF1	chr12:123756235-123756482	PFSK-1	brain:	n/a	n/a
33	E2F1	chr12:123755796-123756703	Hela-S3	cervix:	n/a	chr12:123756365-123756375 chr12:123756315-123756324 chr12:123756346-123756356 chr12:123756619-123756629 chr12:123756343-123756353 chr12:123755967-123755977
34	YY1	chr12:123756193-123756970	K562	blood:	n/a	chr12:123756380-123756391
35	ZBTB7A	chr12:123755077-123756720	K562	blood:	n/a	chr12:123756519-123756533
36	YY1	chr12:123756196-123756490	A549	lung:	n/a	chr12:123756380-123756391
37	POLR2A	chr12:123756239-123757058	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:123756188-123756667	A549	lung:	n/a	n/a
39	YY1	chr12:123755583-123756909	HepG2	liver:	n/a	chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
40	FOXA1	chr12:123756219-123756846	T-47D	breast:	n/a	n/a
41	HEY1	chr12:123756183-123756864	HepG2	liver:	n/a	chr12:123756369-123756384 chr12:123756378-123756393 chr12:123756305-123756320
42	YY1	chr12:123756245-123756417	HCT-116	colon:	n/a	chr12:123756380-123756391
43	TAF1	chr12:123755550-123756761	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:123754817-123756733	GM18951	blood:	n/a	n/a
45	TAF1	chr12:123756136-123756425	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:123755676-123756649	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr12:123756206-123756712	Gliobla	brain:	n/a	n/a
48	RUNX3	chr12:123756246-123756511	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:123755266-123756833	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123756318-123756368	HRCEpiC	kidney:	n/a
2	chr12:123756318-123756368	GM12891	blood:	n/a
3	chr12:123756318-123756368	PANC-1	pancreas:	n/a
4	chr12:123756318-123756368	HEEpiC	esophagus:	n/a
5	chr12:123756318-123756368	Jurkat	blood:	n/a
6	chr12:123756318-123756368	A549	lung:	n/a
7	chr12:123756318-123756368	Hela-S3	cervix:	n/a
8	chr12:123756318-123756368	NHBE	bronchial:	n/a
9	chr12:123756318-123756368	T-47D	breast:	n/a
10	chr12:123756318-123756368	MCF-7	breast:	n/a
11	chr12:123756318-123756368	HCT-116	colon:	n/a
12	chr12:123756318-123756368	K562	blood:	n/a
13	chr12:123756318-123756368	NT2-D1	testis:	n/a
14	chr12:123756318-123756368	ECC-1	luminal epithelium:	n/a
15	chr12:123756318-123756368	HRE	kidney:	n/a
16	chr12:123756318-123756368	SK-N-SH_RA	brain:	n/a
17	chr12:123756318-123756368	HAEpiC	amniotic membrane:	n/a
18	chr12:123756318-123756368	HMEC	breast:	n/a
19	chr12:123756318-123756368	RPTEC	kidney:	n/a
20	chr12:123756318-123756368	NH-A	brain:	n/a
21	chr12:123756318-123756368	NB4	blood:	n/a
22	chr12:123756318-123756368	GM12878	blood:	n/a
23	chr12:123756318-123756368	GM06990	blood:	n/a
24	chr12:123756318-123756368	NHDF-neo	bronchial:	n/a
25	chr12:123756318-123756368	HL-60	blood:	n/a
26	chr12:123756318-123756368	BJ	skin:	n/a
27	chr12:123756318-123756368	SK-N-SH	brain:	n/a
28	chr12:123756318-123756368	AG10803	skin:	n/a
29	chr12:123756318-123756368	HepG2	liver:	n/a
30	chr12:123756318-123756368	GM19239	blood:	n/a
31	chr12:123756318-123756368	BE2_C	brain:	n/a
32	chr12:123756318-123756368	HUVEC	blood vessel:	n/a
33	chr12:123756318-123756368	AG09319	gingival:	n/a
34	chr12:123756318-123756368	MCF10A-Er-Src	breast:	n/a
35	chr12:123756318-123756368	H1-hESC	embryonic stem cell:	embryo
36	chr12:123756318-123756368	HNPCEpiC	eye:	n/a
37	chr12:123756318-123756368	GM12892	blood:	n/a
38	chr12:123756318-123756368	HCF	heart:	n/a
39	chr12:123756318-123756368	HCM	heart:	n/a
40	chr12:123756318-123756368	AG09309	skin:	n/a
41	chr12:123756318-123756368	LNCaP	prostate:	n/a
42	chr12:123756318-123756368	HEK293	kidney:	embryo
43	chr12:123756318-123756368	AoSMC	blood vessel:	n/a
44	chr12:123756318-123756368	AG04449	skin:	fetal
45	chr12:123756318-123756368	HIPEpiC	eye:	n/a
46	chr12:123756318-123756368	PFSK-1	brain:	n/a
47	chr12:123756318-123756368	SK-N-MC	brain:	n/a
48	chr12:123756318-123756368	CMK	blood:	n/a
49	chr12:123756318-123756368	U87	brain:	n/a
50	chr12:123756318-123756368	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
2	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
3	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
4	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
5	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
6	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
7	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
8	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
9	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
10	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
11	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
12	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
13	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
14	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
15	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
16	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
17	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
18	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
19	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
20	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
21	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
22	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
23	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
24	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
25	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
26	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
27	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
28	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
29	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
30	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
31	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

Variant related genes	Relation type
CDK2AP1	TF binding region
CDK2AP1	CpG island
ENSG00000111361	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000270113	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000199845	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	esv3506414	chr12:123754849-123757572	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3506415	chr12:123754849-123757572	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	esv3441214	chr12:123755024-123757572	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
15	chr12:123754000-123756800	Active TSS	Gastric	stomach
16	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:123754000-123757200	Active TSS	Ovary	ovary
20	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:123754200-123756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:123754200-123756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123754200-123756800	Active TSS	HSMMtube	muscle
25	chr12:123754200-123757000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:123754200-123757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:123754200-123757200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:123754200-123757200	Active TSS	Aorta	Aorta
29	chr12:123754200-123757200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:123754200-123757200	Active TSS	HSMM	muscle
31	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:123754600-123756800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:123754600-123756800	Active TSS	Small Intestine	intestine
35	chr12:123754800-123756600	Active TSS	HMEC	breast
36	chr12:123754800-123756800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:123754800-123757200	Active TSS	Lung	lung
38	chr12:123755000-123756800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:123755000-123756800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123755000-123756800	Active TSS	Fetal Intestine Small	intestine
41	chr12:123755000-123756800	Active TSS	Fetal Stomach	stomach
42	chr12:123755000-123756800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr12:123755000-123756800	Active TSS	Thymus	Thymus
44	chr12:123755000-123756800	Active TSS	A549	lung
45	chr12:123755000-123756800	Active TSS	Hela-S3	cervix
46	chr12:123755000-123756800	Active TSS	HUVEC	blood vessel
47	chr12:123755000-123756800	Active TSS	NH-A	brain
48	chr12:123755000-123756800	Active TSS	NHLF	lung
49	chr12:123755000-123756800	Active TSS	Osteobl	bone
50	chr12:123755000-123757000	Active TSS	Pancreas	Pancrea

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