Variant report

Variant	rs56321769
Chromosome Location	chr14:42078975-42078976
allele	C/G
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	POLR2A	chr14:42078959-42079403	PANC-1	pancreas:	n/a	n/a
2	RAD21	chr14:42078889-42079472	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr14:42078887-42079343	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr14:42078910-42079516	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:42078760-42079552	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr14:42078973-42079379	MCF-7	breast:	n/a	n/a
7	MXI1	chr14:42078874-42079415	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:42078921-42079375	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr14:42078873-42079537	MCF-7	breast:	n/a	n/a
10	RAD21	chr14:42078945-42079418	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr14:42078945-42079439	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr14:42078960-42079110	HVMF	connective:	n/a	n/a
13	RAD21	chr14:42078913-42079493	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:42078748-42079597	H1-neurons	neurons:	n/a	n/a
15	RAD21	chr14:42078950-42079396	HepG2	liver:	n/a	n/a
16	TCF7L2	chr14:42078967-42079288	PANC-1	pancreas:	n/a	n/a
17	SIN3A	chr14:42078393-42079528	H1-hESC	embryonic stem cell:	n/a	chr14:42079002-42079013 chr14:42078763-42078772
18	CTCF	chr14:42078874-42079459	MCF-7	breast:	n/a	n/a
19	CTBP2	chr14:42078820-42079514	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:42078915-42079422	MCF-7	breast:	n/a	n/a
21	SRF	chr14:42078926-42079568	MCF-7	breast:	n/a	chr14:42079093-42079111
22	SIN3AK20	chr14:42078895-42079497	PANC-1	pancreas:	n/a	n/a
23	REST	chr14:42078462-42079916	H1-neurons	neurons:	n/a	chr14:42079410-42079423 chr14:42079263-42079281

Variant related genes	Relation type
ENSG00000258636	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61990287	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:42073000-42079600	Active TSS	Right Atrium	heart
3	chr14:42073600-42079800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:42074800-42079800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:42075200-42079200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr14:42076000-42079800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr14:42076200-42079600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr14:42076200-42079800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:42077000-42079000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr14:42077000-42079600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr14:42077200-42079600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr14:42077200-42079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:42077200-42079800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:42077400-42079600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr14:42077400-42079800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
16	chr14:42077600-42079600	Active TSS	Rectal Smooth Muscle	rectum
17	chr14:42077600-42081000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:42077800-42079000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr14:42077800-42079000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:42077800-42079200	Weak transcription	Pancreas	Pancrea
21	chr14:42077800-42079200	Active TSS	Psoas Muscle	Psoas
22	chr14:42077800-42079400	Bivalent/Poised TSS	Right Ventricle	heart
23	chr14:42077800-42079600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
24	chr14:42078200-42079200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:42078200-42079200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr14:42078200-42079800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr14:42078400-42079200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:42078400-42079400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr14:42078400-42079400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:42078400-42079400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:42078400-42079600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:42078400-42079600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:42078400-42079600	Active TSS	Brain Anterior Caudate	brain
34	chr14:42078400-42079600	Active TSS	Fetal Kidney	kidney
35	chr14:42078400-42079600	Active TSS	Ovary	ovary
36	chr14:42078400-42079800	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr14:42078400-42079800	Bivalent/Poised TSS	NHLF	lung
38	chr14:42078400-42080200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr14:42078400-42080600	Active TSS	Brain Angular Gyrus	brain
40	chr14:42078600-42079000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:42078600-42079200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:42078600-42079400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:42078600-42079400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:42078600-42079400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr14:42078600-42079400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:42078600-42079600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr14:42078600-42079600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:42078600-42079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:42078600-42079600	Active TSS	Fetal Lung	lung
50	chr14:42078600-42079600	Flanking Active TSS	Fetal Muscle Leg	muscle

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