Variant report

Variant	rs61995486
Chromosome Location	chr14:31669059-31669060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31661874..31669449-chr14:31675207..31678992,11	MCF-7	breast:
2	chr14:31667340..31669101-chr14:31670075..31672615,3	MCF-7	breast:
3	chr14:31667035..31669074-chr14:31688594..31690835,2	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10136065	1.00[ASN][1000 genomes]
rs10136918	1.00[ASN][1000 genomes]
rs10142413	1.00[ASN][1000 genomes]
rs10146042	1.00[ASN][1000 genomes]
rs10146272	1.00[ASN][1000 genomes]
rs10147747	1.00[ASN][1000 genomes]
rs12880208	1.00[ASN][1000 genomes]
rs12888959	0.92[ASN][1000 genomes]
rs28377925	1.00[ASN][1000 genomes]
rs28806860	1.00[ASN][1000 genomes]
rs34666986	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34807591	1.00[ASN][1000 genomes]
rs34975239	1.00[ASN][1000 genomes]
rs61976859	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978760	1.00[ASN][1000 genomes]
rs61978769	0.92[ASN][1000 genomes]
rs6571392	1.00[ASN][1000 genomes]
rs7147179	1.00[ASN][1000 genomes]
rs7154556	1.00[ASN][1000 genomes]
rs7159848	1.00[ASN][1000 genomes]
rs8022272	0.92[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61995486	HECTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31637200-31675000	Weak transcription	Gastric	stomach
2	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
4	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
5	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
6	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
8	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
11	chr14:31648200-31670200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:31648200-31671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:31651000-31674800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:31654400-31674800	Weak transcription	Colonic Mucosa	Colon
15	chr14:31654600-31671800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:31655000-31674400	Weak transcription	Fetal Brain Female	brain
17	chr14:31656800-31669400	Weak transcription	Lung	lung
18	chr14:31659000-31671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31659800-31673800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:31660200-31669200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:31660200-31675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:31660600-31674200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:31660800-31675000	Weak transcription	Fetal Thymus	thymus
24	chr14:31661600-31669200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:31663600-31669800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:31664200-31673800	Genic enhancers	HepG2	liver
27	chr14:31664400-31674800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:31664400-31675000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:31664600-31669400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:31664600-31670000	Weak transcription	Adipose Nuclei	Adipose
31	chr14:31664600-31672200	Weak transcription	Fetal Kidney	kidney
32	chr14:31664600-31673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:31664600-31674000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:31665200-31669400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:31665200-31670000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:31665200-31670800	Weak transcription	Left Ventricle	heart
37	chr14:31665200-31671600	Weak transcription	NH-A	brain
38	chr14:31665200-31673800	Weak transcription	HMEC	breast
39	chr14:31665200-31675000	Weak transcription	Small Intestine	intestine
40	chr14:31665400-31669200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:31665400-31669200	Weak transcription	Right Atrium	heart
42	chr14:31665400-31669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:31665400-31674200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:31665400-31674200	Weak transcription	Fetal Heart	heart
45	chr14:31665400-31674800	Weak transcription	Aorta	Aorta
46	chr14:31665400-31675000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:31665600-31670000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:31665600-31670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:31665600-31674000	Weak transcription	NHLF	lung
50	chr14:31665600-31674800	Weak transcription	HSMMtube	muscle

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