Variant report

Variant	rs33983486
Chromosome Location	chr14:31647439-31647440
allele	C/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	POLR2A	chr14:31647117-31647698	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31646873..31649648-chr14:31650062..31652534,2	MCF-7	breast:
2	chr14:31645444..31648417-chr14:31675199..31677762,3	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10130310	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10136398	0.88[EUR][1000 genomes]
rs12436156	0.88[EUR][1000 genomes]
rs12879653	0.86[EUR][1000 genomes]
rs12888536	0.97[EUR][1000 genomes]
rs28417029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34588788	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61978767	0.91[EUR][1000 genomes]

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:127 , 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	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr14:31567000-31651200	Strong transcription	Dnd41	blood
7	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:31600600-31649800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:31603800-31653400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:31609200-31648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:31610600-31647800	Strong transcription	Fetal Thymus	thymus
26	chr14:31621000-31647800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:31628000-31648400	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:31628000-31648400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:31629000-31648400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
31	chr14:31630000-31648200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:31631000-31648200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:31631800-31648400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:31632000-31648400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:31632600-31649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:31632800-31658000	Weak transcription	Small Intestine	intestine
37	chr14:31633600-31648400	Strong transcription	Fetal Intestine Large	intestine
38	chr14:31634000-31648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:31634400-31647600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:31634800-31648000	Strong transcription	Fetal Stomach	stomach
41	chr14:31635200-31647800	Strong transcription	Fetal Lung	lung
42	chr14:31635400-31647800	Strong transcription	HUVEC	blood vessel
43	chr14:31635800-31648000	Strong transcription	Adipose Nuclei	Adipose
44	chr14:31635800-31649200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:31635800-31663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:31636000-31647800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:31636000-31649600	Weak transcription	Stomach Mucosa	stomach
48	chr14:31636200-31647800	Strong transcription	Liver	Liver
49	chr14:31636200-31648400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:31636600-31648400	Strong transcription	Placenta	Placenta

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