Variant report

Variant	rs115904911
Chromosome Location	chr12:123753853-123753854
allele	A/G/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	MAZ	chr12:123753845-123754717	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
3	STAT5A	chr12:123753376-123754238	GM12878	blood:	n/a	chr12:123753947-123753959
4	POLR2A	chr12:123753825-123754474	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:123753036-123754222	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr12:123753730-123754447	H1-hESC	embryonic stem cell:	n/a	chr12:123753948-123753957 chr12:123754238-123754247
7	POLR2A	chr12:123753845-123754448	GM12891	blood:	n/a	n/a
8	REST	chr12:123753849-123754428	SK-N-SH	brain:	n/a	chr12:123754061-123754079 chr12:123754356-123754374
9	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
10	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
11	POLR2A	chr12:123753070-123754228	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	TAF1	chr12:123753851-123754545	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
16	MBD4	chr12:123753613-123753922	HepG2	liver:	n/a	n/a
17	TBP	chr12:123753822-123754486	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:123753789-123754394	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr12:123753809-123754202	GM12891	blood:	n/a	n/a
21	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
22	POLR2A	chr12:123753798-123754554	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
24	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
25	POLR2A	chr12:123753761-123754544	SK-N-SH	brain:	n/a	n/a
26	PML	chr12:123753608-123755391	GM12878	blood:	n/a	n/a
27	ELF1	chr12:123753666-123754669	GM12878	blood:	n/a	chr12:123754359-123754371 chr12:123754364-123754373
28	TAF1	chr12:123753732-123754621	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF263	chr12:123753635-123754009	HEK293-T-REx	kidney:	n/a	chr12:123753850-123753859 chr12:123753845-123753866
30	POLR2A	chr12:123752762-123757235	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:123752165-123757291	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:123753817-123755241	H1-neurons	neurons:	n/a	n/a
33	SIN3AK20	chr12:123753850-123754489	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr12:123753802-123755227	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:123753838-123754469	GM12878	blood:	n/a	n/a
36	TAF7	chr12:123753836-123754544	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:123753739-123754570	HUVEC	blood vessel:	n/a	n/a
38	MTA3	chr12:123752878-123754285	GM12878	blood:	n/a	n/a
39	CREB1	chr12:123753853-123754548	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr12:123753574-123755219	H1-neurons	neurons:	n/a	chr12:123754061-123754079 chr12:123754356-123754374 chr12:123754568-123754577
41	POLR2A	chr12:123753545-123753855	HepG2	liver:	n/a	n/a
42	SIN3A	chr12:123753742-123756201	H1-hESC	embryonic stem cell:	n/a	chr12:123755352-123755361
43	EGR1	chr12:123753756-123754230	K562	blood:	n/a	chr12:123754151-123754164 chr12:123753945-123753955 chr12:123753940-123753953 chr12:123753940-123753953

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
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111361	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	chr12:123743400-123754000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:123745400-123754000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:123746600-123754000	Weak transcription	Fetal Kidney	kidney
8	chr12:123747000-123754400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
10	chr12:123751800-123754200	Weak transcription	Aorta	Aorta
11	chr12:123751800-123754200	Flanking Active TSS	HSMMtube	muscle
12	chr12:123752000-123754000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:123752000-123754000	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123752200-123754000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:123752200-123754000	Enhancers	Right Ventricle	heart
17	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:123752400-123754000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:123752400-123754000	Enhancers	Fetal Lung	lung
22	chr12:123752400-123754000	Enhancers	Placenta	Placenta
23	chr12:123752400-123754000	Enhancers	Left Ventricle	heart
24	chr12:123752400-123754200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:123752400-123754200	Flanking Active TSS	HSMM	muscle
26	chr12:123752400-123754400	Enhancers	Lung	lung
27	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:123752600-123754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:123752600-123754000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:123752600-123754000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:123752600-123754000	Flanking Active TSS	Thymus	Thymus
34	chr12:123752600-123754200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:123752600-123754400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:123752600-123754600	Active TSS	Rectal Smooth Muscle	rectum
37	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:123752800-123754000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:123752800-123754000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:123752800-123754000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr12:123752800-123754000	Genic enhancers	Placenta Amnion	Placenta Amnion
43	chr12:123752800-123754200	Enhancers	Pancreas	Pancrea
44	chr12:123753000-123754000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:123753000-123754000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123753000-123754000	Enhancers	Ovary	ovary
47	chr12:123753000-123754000	Enhancers	Right Atrium	heart
48	chr12:123753000-123754000	Flanking Active TSS	GM12878-XiMat	blood
49	chr12:123753000-123754200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr12:123753000-123754200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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