Variant report

Variant	rs6571389
Chromosome Location	chr14:31541494-31541495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31493306..31495804-chr14:31540351..31542443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11624437	0.87[GIH][hapmap]
rs12435833	0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17097688	0.87[GIH][hapmap]
rs17097735	0.81[GIH][hapmap]
rs17097741	0.81[GIH][hapmap]
rs36025583	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825741	1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981817	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981818	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6571388	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155228	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7156330	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021054	1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888564	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:31522800-31553600	Weak transcription	Lung	lung
8	chr14:31528000-31544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:31528200-31543200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:31528800-31541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:31528800-31552800	Weak transcription	Fetal Brain Female	brain
13	chr14:31528800-31559600	Weak transcription	Liver	Liver
14	chr14:31529000-31554400	Weak transcription	Colonic Mucosa	Colon
15	chr14:31529000-31559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:31529000-31559800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:31529600-31554000	Weak transcription	Spleen	Spleen
18	chr14:31529800-31548200	Weak transcription	Right Atrium	heart
19	chr14:31529800-31549600	Weak transcription	Esophagus	oesophagus
20	chr14:31529800-31559800	Weak transcription	Small Intestine	intestine
21	chr14:31529800-31566200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:31530000-31541600	Weak transcription	Pancreas	Pancrea
23	chr14:31530000-31542800	Weak transcription	Fetal Intestine Large	intestine
24	chr14:31530000-31543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:31530000-31544000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:31530000-31553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:31530800-31559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:31533000-31553200	Weak transcription	Brain Anterior Caudate	brain
31	chr14:31533400-31560000	Weak transcription	Left Ventricle	heart
32	chr14:31534200-31566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:31534400-31566200	Weak transcription	Fetal Thymus	thymus
34	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:31534800-31543200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:31535800-31548000	Weak transcription	Hela-S3	cervix
38	chr14:31536200-31559800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:31536400-31566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:31536600-31559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:31536800-31553800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:31537400-31544000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:31537400-31569200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:31537600-31549600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:31537600-31553200	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:31537800-31542200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:31537800-31569800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:31538000-31547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:31538000-31549600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:31538000-31567200	Weak transcription	GM12878-XiMat	blood

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