Variant report

Variant	rs6571392
Chromosome Location	chr14:31635342-31635343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31632142..31635361-chr14:31675542..31678313,5	MCF-7	breast:
2	chr14:31634801..31637457-chr14:31677237..31679134,2	K562	blood:
3	chr14:31633500..31636890-chr14:31639445..31642730,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10130804	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs10134821	0.82[EUR][1000 genomes]
rs10136065	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136918	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142413	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146042	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146272	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147747	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880208	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888959	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28377925	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28806860	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34666986	1.00[ASN][1000 genomes]
rs34807591	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34975239	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976859	1.00[ASN][1000 genomes]
rs61978760	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978769	0.92[ASN][1000 genomes]
rs61995486	1.00[ASN][1000 genomes]
rs6571391	0.95[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs7144107	0.81[EUR][1000 genomes]
rs7147179	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154556	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159848	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161315	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8004286	0.90[EUR][1000 genomes]
rs8005747	0.86[EUR][1000 genomes]
rs8022272	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];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	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6571392	C14orf23	cis	parietal	SCAN
rs6571392	HECTD1	cis	cerebellum	SCAN

Chromatin state (count:126 , 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	chr14:31598600-31635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:31600600-31649800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:31603800-31653400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:31609200-31648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:31610600-31647800	Strong transcription	Fetal Thymus	thymus
27	chr14:31613800-31646800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:31620400-31635400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:31621000-31647800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:31621800-31639200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:31625000-31642200	Weak transcription	Psoas Muscle	Psoas
32	chr14:31625200-31635400	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:31626800-31645800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:31627000-31636400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:31628000-31648400	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:31628000-31648400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:31628200-31635400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:31628800-31645600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:31629000-31648400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:31629800-31639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:31629800-31647400	Strong transcription	Primary T cells from cord blood	blood
42	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
43	chr14:31630000-31647400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:31630000-31648200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:31630400-31637600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:31630400-31640800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr14:31631000-31648200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:31631200-31637800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr14:31631800-31648400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:31632000-31637200	Strong transcription	Brain Germinal Matrix	brain

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