Variant report

Variant	rs35256757
Chromosome Location	chr14:56046115-56046116
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:56045617-56048670	SK-N-SH	brain:	n/a	n/a
2	JUND	chr14:56045641-56047156	SK-N-SH	brain:	n/a	chr14:56045750-56045758 chr14:56046912-56046921
3	GATA2	chr14:56045846-56046809	SH-SY5Y	brain:	n/a	n/a
4	MTA3	chr14:56046091-56046731	GM12878	blood:	n/a	n/a
5	SMARCB1	chr14:56045893-56048114	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:56045364-56046204	SK-N-MC	brain:	n/a	n/a
7	ZNF384	chr14:56045995-56046218	K562	blood:	n/a	n/a
8	POLR2A	chr14:56045922-56048399	IMR90	lung:	n/a	n/a
9	BACH1	chr14:56045735-56046148	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr14:56045664-56048621	IMR90	lung:	n/a	chr14:56046914-56046924 chr14:56046909-56046919 chr14:56047666-56047676
11	TCF12	chr14:56045949-56047002	A549	lung:	n/a	chr14:56046047-56046054 chr14:56046074-56046083
12	POLR2A	chr14:56045779-56048486	Hela-S3	cervix:	n/a	n/a
13	GTF3C2	chr14:56046086-56046639	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr14:56045354-56048230	IMR90	lung:	n/a	n/a
15	MAZ	chr14:56045518-56048442	IMR90	lung:	n/a	chr14:56047371-56047381
16	GTF3C2	chr14:56045813-56046880	K562	blood:	n/a	n/a
17	POLR2A	chr14:56045212-56047473	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr14:56046054-56047039	PANC-1	pancreas:	n/a	n/a
19	YY1	chr14:56045860-56046278	GM12878	blood:	n/a	chr14:56046031-56046047 chr14:56045940-56045959
20	RCOR1	chr14:56045879-56046981	K562	blood:	n/a	n/a
21	POLR2A	chr14:56045670-56048518	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3AK20	chr14:56045563-56047252	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:56046098-56046148	GM12892	blood:	n/a
2	chr14:56046098-56046148	SK-N-SH	brain:	n/a
3	chr14:56046098-56046148	U87	brain:	n/a
4	chr14:56046098-56046148	HRE	kidney:	n/a
5	chr14:56046098-56046148	NT2-D1	testis:	n/a
6	chr14:56046098-56046148	GM19239	blood:	n/a
7	chr14:56046098-56046148	CMK	blood:	n/a
8	chr14:56046098-56046148	HIPEpiC	eye:	n/a
9	chr14:56046098-56046148	PFSK-1	brain:	n/a
10	chr14:56046098-56046148	LNCaP	prostate:	n/a
11	chr14:56046098-56046148	HCM	heart:	n/a
12	chr14:56046098-56046148	HAEpiC	amniotic membrane:	n/a
13	chr14:56046098-56046148	K562	blood:	n/a
14	chr14:56046098-56046148	HEEpiC	esophagus:	n/a
15	chr14:56046098-56046148	GM12878	blood:	n/a
16	chr14:56046098-56046148	HMEC	breast:	n/a
17	chr14:56046098-56046148	RPTEC	kidney:	n/a
18	chr14:56046098-56046148	AG04450	lung:	fetal
19	chr14:56046098-56046148	HCT-116	colon:	n/a
20	chr14:56046098-56046148	SAEC	small airway:	n/a
21	chr14:56046098-56046148	Hela-S3	cervix:	n/a
22	chr14:56046098-56046148	SK-N-MC	brain:	n/a
23	chr14:56046098-56046148	GM12891	blood:	n/a
24	chr14:56046098-56046148	BE2_C	brain:	n/a
25	chr14:56046098-56046148	AG10803	skin:	n/a
26	chr14:56046098-56046148	ECC-1	luminal epithelium:	n/a
27	chr14:56046098-56046148	HCPEpiC	choroid plexus:	n/a
28	chr14:56046098-56046148	HRCEpiC	kidney:	n/a
29	chr14:56046098-56046148	HRPEpiC	eye:	n/a
30	chr14:56046098-56046148	HNPCEpiC	eye:	n/a
31	chr14:56046098-56046148	PrEC	prostate:	n/a
32	chr14:56046098-56046148	T-47D	breast:	n/a
33	chr14:56046098-56046148	AoSMC	blood vessel:	n/a
34	chr14:56046098-56046148	PANC-1	pancreas:	n/a
35	chr14:56046098-56046148	NHDF-neo	bronchial:	n/a
36	chr14:56046098-56046148	MCF-7	breast:	n/a
37	chr14:56046098-56046148	A549	lung:	n/a
38	chr14:56046098-56046148	Hepatocyte	liver:	n/a
39	chr14:56046098-56046148	GM06990	blood:	n/a
40	chr14:56046098-56046148	BJ	skin:	n/a
41	chr14:56046098-56046148	NHBE	bronchial:	n/a
42	chr14:56046098-56046148	H1-hESC	embryonic stem cell:	embryo
43	chr14:56046098-56046148	NB4	blood:	n/a
44	chr14:56046098-56046148	SK-N-SH_RA	brain:	n/a
45	chr14:56046098-56046148	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:56046098-56046148	AG09309	skin:	n/a
47	chr14:56046098-56046148	MCF10A-Er-Src	breast:	n/a
48	chr14:56046098-56046148	AG09319	gingival:	n/a
49	chr14:56046098-56046148	Jurkat	blood:	n/a
50	chr14:56046098-56046148	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56022620..56026445-chr14:56044953..56047966,3	MCF-7	breast:
2	chr14:55905450..55907568-chr14:56045550..56047292,2	MCF-7	breast:

No data

Variant related genes	Relation type
KTN1	TF binding region
KTN1	CpG island
ENSG00000182521	Chromatin interaction
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv3375073	chr14:56045749-56048597	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3345234	chr14:56045824-56048372	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1188302	chr14:56046114-56046115	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr14:56045000-56046200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:56045200-56048000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:56045200-56048200	Active TSS	NHDF-Ad	bronchial
4	chr14:56045200-56048400	Active TSS	Ovary	ovary
5	chr14:56045200-56048400	Active TSS	A549	lung
6	chr14:56045200-56050000	Active TSS	GM12878-XiMat	blood
7	chr14:56045400-56046200	Active TSS	Stomach Smooth Muscle	stomach
8	chr14:56045400-56046400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:56045400-56046400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:56045400-56047200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:56045400-56047800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:56045400-56047800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:56045400-56048000	Active TSS	Brain Cingulate Gyrus	brain
14	chr14:56045400-56048000	Active TSS	Brain Hippocampus Middle	brain
15	chr14:56045400-56048000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:56045400-56048000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr14:56045400-56048000	Active TSS	Right Ventricle	heart
18	chr14:56045400-56048200	Active TSS	HMEC	breast
19	chr14:56045400-56048400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:56045600-56046200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr14:56045600-56046200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr14:56045600-56046200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:56045600-56046200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr14:56045600-56046200	Flanking Active TSS	Fetal Brain Male	brain
25	chr14:56045600-56046200	Flanking Active TSS	Fetal Brain Female	brain
26	chr14:56045600-56046200	Flanking Active TSS	Hela-S3	cervix
27	chr14:56045600-56046400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:56045600-56046600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:56045600-56046600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr14:56045600-56046600	Flanking Active TSS	Dnd41	blood
31	chr14:56045600-56047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:56045600-56048000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:56045600-56048000	Active TSS	Brain Anterior Caudate	brain
34	chr14:56045600-56048000	Active TSS	Fetal Intestine Large	intestine
35	chr14:56045600-56048200	Active TSS	Colon Smooth Muscle	Colon
36	chr14:56045600-56048200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:56045600-56048200	Active TSS	Rectal Smooth Muscle	rectum
38	chr14:56045600-56048400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr14:56045600-56048400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:56045600-56048400	Active TSS	Pancreas	Pancrea
41	chr14:56045600-56048600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:56045600-56048800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr14:56045600-56048800	Active TSS	NHLF	lung
44	chr14:56045600-56049000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:56045600-56050000	Active TSS	Right Atrium	heart
46	chr14:56045600-56051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:56045800-56046200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:56045800-56046200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:56045800-56046200	Active TSS	Fetal Heart	heart
50	chr14:56045800-56046200	Flanking Active TSS	Fetal Muscle Leg	muscle

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