Variant report

Variant	rs55718189
Chromosome Location	chr14:31591756-31591757
allele	A/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	BCL3	chr14:31591200-31591803	GM12878	blood:	n/a	n/a
2	MYC	chr14:31591648-31591785	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF3	chr14:31591230-31591773	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:31591487-31591808	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:31591362-31591798	GM12891	blood:	n/a	n/a
6	POLR2A	chr14:31591339-31591857	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:31591263-31591812	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:31591257-31591763	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:31591312-31591864	HepG2	liver:	n/a	chr14:31591737-31591748
10	POLR2A	chr14:31591515-31591780	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:31591125-31591813	HepG2	liver:	n/a	n/a
12	NFATC1	chr14:31591299-31591884	GM12878	blood:	n/a	n/a
13	JUND	chr14:31591641-31591760	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:31591370-31591791	H1-hESC	embryonic stem cell:	n/a	chr14:31591737-31591748
15	POLR2A	chr14:31591169-31591782	HL-60	blood:	n/a	n/a
16	PBX3	chr14:31591265-31591797	GM12878	blood:	n/a	n/a
17	BCL3	chr14:31591162-31591914	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:31591182-31591807	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:31591348-31591847	IMR90	lung:	n/a	chr14:31591737-31591748
20	CEBPB	chr14:31591484-31591815	Hela-S3	cervix:	n/a	chr14:31591737-31591748
21	CEBPB	chr14:31591276-31591882	HepG2	liver:	n/a	chr14:31591737-31591748
22	POLR2A	chr14:31591300-31591791	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:31591032-31592859	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:31591352-31591772	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:31591443-31591775	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFATC1	chr14:31591380-31591846	GM12878	blood:	n/a	n/a
27	STAT5A	chr14:31591228-31591859	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:31591163-31591886	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31582719..31585282-chr14:31590697..31593425,2	K562	blood:
2	chr14:31590905..31593026-chr14:31610871..31613579,2	MCF-7	breast:

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000207440	Chromatin interaction
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56297437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57869643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59058028	1.00[AMR][1000 genomes]
rs7151851	1.00[AMR][1000 genomes]
rs74042126	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042182	1.00[AMR][1000 genomes]
rs8004484	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv3404916	chr14:31589401-31593699	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31565600-31598000	Strong transcription	Liver	Liver
7	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
17	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:31566600-31592000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:31566600-31592400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:31566600-31592400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:31566600-31592800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:31567000-31592600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:31567000-31592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:31567000-31597000	Strong transcription	HepG2	liver
30	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:31567000-31651200	Strong transcription	Dnd41	blood
33	chr14:31567200-31592800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:31567200-31592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:31568400-31592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:31569800-31592800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
39	chr14:31573000-31597600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:31575400-31598800	Strong transcription	Fetal Lung	lung
44	chr14:31575800-31592400	Strong transcription	Left Ventricle	heart
45	chr14:31576400-31592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:31576400-31593600	Strong transcription	Osteobl	bone
47	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:31577000-31592400	Strong transcription	Fetal Brain Female	brain
49	chr14:31577200-31592000	Strong transcription	Fetal Intestine Small	intestine
50	chr14:31577200-31592400	Strong transcription	Fetal Stomach	stomach

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