Variant report

Variant	rs12433463
Chromosome Location	chr14:31678236-31678237
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:31675757-31678710	HepG2	liver:	n/a	chr14:31677129-31677139
2	POLR2A	chr14:31674875-31678653	HepG2	liver:	n/a	n/a
3	MAFF	chr14:31677128-31678302	HepG2	liver:	n/a	n/a
4	HDAC2	chr14:31675775-31678302	HepG2	liver:	n/a	chr14:31678138-31678152 chr14:31678136-31678150 chr14:31678141-31678155 chr14:31678140-31678154 chr14:31678137-31678151 chr14:31678133-31678147
5	POLR2A	chr14:31674335-31678653	HepG2	liver:	n/a	n/a
6	WRNIP1	chr14:31676973-31678498	GM12878	blood:	n/a	n/a
7	MAFF	chr14:31677838-31678301	K562	blood:	n/a	n/a
8	MYBL2	chr14:31674240-31678690	HepG2	liver:	n/a	n/a
9	BACH1	chr14:31677868-31678382	H1-hESC	embryonic stem cell:	n/a	n/a
10	HEY1	chr14:31675922-31678708	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:31674886-31678390	IMR90	lung:	n/a	n/a
12	MBD4	chr14:31674287-31678637	HepG2	liver:	n/a	n/a
13	NFIC	chr14:31676352-31678306	HepG2	liver:	n/a	n/a
14	CHD1	chr14:31674131-31678761	IMR90	lung:	n/a	n/a
15	MBD4	chr14:31674718-31678633	HepG2	liver:	n/a	n/a
16	MAZ	chr14:31675699-31678316	IMR90	lung:	n/a	chr14:31677129-31677139
17	BACH1	chr14:31677838-31678318	K562	blood:	n/a	n/a
18	TEAD4	chr14:31676426-31678582	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31677416..31678964-chr14:31720140..31723072,2	K562	blood:
2	chr14:31675418..31678639-chr14:31811864..31816181,5	MCF-7	breast:
3	chr14:31677123..31678687-chr14:31776671..31778228,2	MCF-7	breast:
4	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:
5	chr14:31677392..31679217-chr14:31684991..31686865,2	MCF-7	breast:
6	chr14:31634801..31637457-chr14:31677237..31679134,2	K562	blood:
7	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
8	chr1:150534629..150535612-chr14:31677743..31678393,2	Hela-S3	cervix:
9	chr14:31674459..31678432-chr14:31805100..31811566,8	MCF-7	breast:
10	chr14:31677046..31680336-chr14:31784092..31787188,3	K562	blood:
11	chr14:31678185..31681161-chr14:31691118..31693940,3	K562	blood:
12	chr14:31677046..31680336-chr14:31784092..31788238,4	K562	blood:
13	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:
14	chr14:31677297..31678964-chr14:31721572..31723567,2	K562	blood:
15	chr14:31676195..31678341-chr2:204101427..204103984,2	MCF-7	breast:

No data

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000129493	Chromatin interaction
ENSG00000119004	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17097740	1.00[CEU][hapmap]

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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31675200-31678400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31677200-31678400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:31677200-31678600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:31677200-31678600	Flanking Active TSS	Dnd41	blood
5	chr14:31677400-31678400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31677400-31678400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr14:31677600-31678400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:31677600-31678400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:31677600-31678400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr14:31677600-31678400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:31677600-31678400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:31677600-31678400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr14:31677600-31678400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:31677800-31678400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:31677800-31678400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr14:31677800-31678400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:31677800-31678400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr14:31677800-31678400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr14:31677800-31678400	Flanking Active TSS	Fetal Brain Male	brain
20	chr14:31677800-31678400	Enhancers	Stomach Mucosa	stomach
21	chr14:31677800-31678600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:31677800-31678600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr14:31677800-31678600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr14:31677800-31678600	Enhancers	Small Intestine	intestine
25	chr14:31677800-31678600	Flanking Active TSS	GM12878-XiMat	blood
26	chr14:31678000-31678400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:31678000-31678400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:31678000-31678400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:31678000-31678400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:31678000-31678400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:31678000-31678400	Enhancers	Fetal Intestine Small	intestine
32	chr14:31678000-31678400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:31678000-31678400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:31678000-31678400	Enhancers	HSMM	muscle
35	chr14:31678000-31678400	Enhancers	NHLF	lung
36	chr14:31678000-31678600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:31678000-31678600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:31678000-31678600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:31678000-31678600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:31678000-31678600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:31678000-31678600	Enhancers	Liver	Liver
42	chr14:31678000-31678600	Enhancers	Fetal Heart	heart
43	chr14:31678000-31678600	Enhancers	Fetal Intestine Large	intestine
44	chr14:31678000-31678600	Enhancers	Fetal Kidney	kidney
45	chr14:31678000-31678600	Enhancers	Fetal Lung	lung
46	chr14:31678000-31678600	Enhancers	Fetal Thymus	thymus
47	chr14:31678000-31678600	Flanking Active TSS	HepG2	liver
48	chr14:31678000-31678600	Enhancers	HUVEC	blood vessel
49	chr14:31678000-31678600	Enhancers	NHDF-Ad	bronchial
50	chr14:31678000-31678600	Enhancers	NHEK	skin

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