Variant report

Variant	rs567218612
Chromosome Location	chr12:123754028-123754029
allele	A/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	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
2	TAF1	chr12:123753904-123754206	GM12878	blood:	n/a	n/a
3	MYC	chr12:123754021-123754208	HUVEC	blood vessel:	n/a	chr12:123754155-123754164
4	MAZ	chr12:123753845-123754717	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
5	YY1	chr12:123753901-123754622	SK-N-SH	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
6	MAX	chr12:123753994-123754468	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
7	STAT5A	chr12:123753376-123754238	GM12878	blood:	n/a	chr12:123753947-123753959
8	POLR2A	chr12:123753825-123754474	GM12878	blood:	n/a	n/a
9	CTCF	chr12:123753960-123754110	AG09319	gingival:	n/a	n/a
10	POLR2A	chr12:123753036-123754222	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr12:123753730-123754447	H1-hESC	embryonic stem cell:	n/a	chr12:123753948-123753957 chr12:123754238-123754247
12	POLR2A	chr12:123753845-123754448	GM12891	blood:	n/a	n/a
13	TAF1	chr12:123753856-123754459	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr12:123753914-123754464	GM15510	blood:	n/a	n/a
15	POLR2A	chr12:123753882-123754693	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr12:123753967-123754524	GM18951	blood:	n/a	n/a
17	REST	chr12:123753849-123754428	SK-N-SH	brain:	n/a	chr12:123754061-123754079 chr12:123754356-123754374
18	POLR2A	chr12:123753961-123754428	IMR90	lung:	n/a	n/a
19	NFIC	chr12:123753919-123754345	GM12878	blood:	n/a	n/a
20	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
21	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
22	POLR2A	chr12:123753070-123754228	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBL1XR1	chr12:123753937-123754137	GM12878	blood:	n/a	n/a
24	YY1	chr12:123753850-123754585	SK-N-SH_RA	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
25	TAF1	chr12:123753851-123754545	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr12:123753955-123754313	H1-hESC	embryonic stem cell:	n/a	chr12:123754235-123754245
27	EP300	chr12:123753951-123754407	SK-N-SH_RA	brain:	n/a	n/a
28	MAX	chr12:123753874-123754505	H1-hESC	embryonic stem cell:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
29	POLR2A	chr12:123753970-123754353	ProgFib	skin:	n/a	n/a
30	YY1	chr12:123753793-123754616	GM12878	blood:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
31	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
32	MAZ	chr12:123753979-123754099	K562	blood:	n/a	n/a
33	EBF1	chr12:123754006-123754201	GM12878	blood:	n/a	n/a
34	MAX	chr12:123753883-123754494	H1-hESC	embryonic stem cell:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
35	MAZ	chr12:123754025-123755284	HepG2	liver:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
36	TBP	chr12:123753822-123754486	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:123754002-123754420	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:123753789-123754394	HUVEC	blood vessel:	n/a	n/a
39	CHD2	chr12:123753973-123754491	GM12878	blood:	n/a	chr12:123754235-123754245
40	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr12:123753809-123754202	GM12891	blood:	n/a	n/a
42	YY1	chr12:123753833-123754565	GM12878	blood:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
43	POLR2A	chr12:123753798-123754554	GM12878	blood:	n/a	n/a
44	RCOR1	chr12:123753965-123754075	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
46	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
47	POLR2A	chr12:123753761-123754544	SK-N-SH	brain:	n/a	n/a
48	PML	chr12:123753608-123755391	GM12878	blood:	n/a	n/a
49	ELF1	chr12:123753666-123754669	GM12878	blood:	n/a	chr12:123754359-123754371 chr12:123754364-123754373
50	TAF1	chr12:123753732-123754621	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
2	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
3	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
4	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
5	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
6	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
7	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
8	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
9	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
10	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
11	chr12:123752887..123754431-chr12:123868251..123870818,2	K562	blood:
12	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
13	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
14	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111358	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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123739200-123754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:123742400-123754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:123742400-123754600	Weak transcription	Small Intestine	intestine
4	chr12:123743000-123754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123747000-123754400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
7	chr12:123751800-123754200	Weak transcription	Aorta	Aorta
8	chr12:123751800-123754200	Flanking Active TSS	HSMMtube	muscle
9	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:123752400-123754200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:123752400-123754200	Flanking Active TSS	HSMM	muscle
15	chr12:123752400-123754400	Enhancers	Lung	lung
16	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr12:123752600-123754200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr12:123752600-123754400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:123752600-123754600	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:123752800-123754200	Enhancers	Pancreas	Pancrea
25	chr12:123753000-123754200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:123753000-123754200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:123753000-123754200	Flanking Active TSS	HUVEC	blood vessel
28	chr12:123753000-123754400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:123753000-123754400	Enhancers	Stomach Mucosa	stomach
30	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:123753200-123754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:123753200-123754400	Enhancers	Fetal Heart	heart
34	chr12:123753200-123754400	Weak transcription	A549	lung
35	chr12:123753200-123754600	Enhancers	Liver	Liver
36	chr12:123753200-123755000	Flanking Active TSS	NH-A	brain
37	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr12:123753400-123754200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:123753400-123754400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr12:123753600-123754200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:123753600-123754200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:123753600-123754200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:123753600-123754400	Weak transcription	Dnd41	blood
46	chr12:123753600-123754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:123753600-123754800	Flanking Active TSS	HMEC	breast
48	chr12:123753600-123755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle

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