Variant report

Variant	rs6571388
Chromosome Location	chr14:31537338-31537339
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31535994..31538827-chr14:31544129..31546661,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12435833	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36025583	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825741	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981817	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981818	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571389	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155228	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7156330	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8021054	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:70 , 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	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
7	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
10	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:31522800-31553600	Weak transcription	Lung	lung
12	chr14:31527800-31537800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:31528000-31544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:31528200-31543200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:31528600-31537800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:31528800-31541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:31528800-31552800	Weak transcription	Fetal Brain Female	brain
19	chr14:31528800-31559600	Weak transcription	Liver	Liver
20	chr14:31529000-31554400	Weak transcription	Colonic Mucosa	Colon
21	chr14:31529000-31559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:31529000-31559800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:31529200-31537400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:31529600-31537400	Weak transcription	HepG2	liver
25	chr14:31529600-31554000	Weak transcription	Spleen	Spleen
26	chr14:31529800-31539600	Weak transcription	Ovary	ovary
27	chr14:31529800-31548200	Weak transcription	Right Atrium	heart
28	chr14:31529800-31549600	Weak transcription	Esophagus	oesophagus
29	chr14:31529800-31559800	Weak transcription	Small Intestine	intestine
30	chr14:31529800-31566200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:31530000-31539200	Weak transcription	Fetal Intestine Small	intestine
32	chr14:31530000-31539400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:31530000-31539400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:31530000-31539400	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:31530000-31539600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:31530000-31541600	Weak transcription	Pancreas	Pancrea
37	chr14:31530000-31542800	Weak transcription	Fetal Intestine Large	intestine
38	chr14:31530000-31543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:31530000-31544000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:31530000-31553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:31530200-31537600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:31530600-31539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:31530800-31559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:31533000-31553200	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31533400-31560000	Weak transcription	Left Ventricle	heart
48	chr14:31534200-31566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:31534400-31566200	Weak transcription	Fetal Thymus	thymus
50	chr14:31534600-31539200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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