Variant report

Variant	rs57530734
Chromosome Location	chr14:63957680-63957681
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63957612..63960480-chr14:63961039..63963972,2	K562	blood:
2	chr14:63947265..63950019-chr14:63956617..63959614,2	MCF-7	breast:
3	chr14:63957396..63961770-chr14:64008486..64011849,5	MCF-7	breast:
4	chr14:63957250..63960543-chr14:63961039..63963972,4	K562	blood:

Variant related genes	Relation type
ENSG00000154001	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11847169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472504	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1988781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59282502	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443470	0.86[AFR][1000 genomes]
rs7142618	1.00[AMR][1000 genomes]
rs7146697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157776	1.00[AMR][1000 genomes]
rs8014212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
4	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:63938800-63958800	Weak transcription	Osteobl	bone
6	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
12	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
13	chr14:63945600-63960000	Weak transcription	Fetal Thymus	thymus
14	chr14:63946200-63966400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
16	chr14:63946800-63959200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:63947800-63959600	Weak transcription	K562	blood
18	chr14:63948400-63963200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:63949400-63959400	Weak transcription	HSMM	muscle
20	chr14:63949800-63958800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:63950400-63961200	Weak transcription	Spleen	Spleen
22	chr14:63950400-63968600	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:63950600-63959600	Weak transcription	Right Atrium	heart
24	chr14:63950600-63962800	Weak transcription	Lung	lung
25	chr14:63950600-63974800	Weak transcription	Gastric	stomach
26	chr14:63950800-63959600	Weak transcription	Aorta	Aorta
27	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
28	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:63951000-64003200	Weak transcription	Ovary	ovary
30	chr14:63951400-63967000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:63951400-63968800	Weak transcription	Primary T cells from cord blood	blood
32	chr14:63951400-63971400	Weak transcription	HepG2	liver
33	chr14:63951600-63958200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:63951600-63959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:63951800-63958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:63951800-63959400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:63951800-63960000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:63952200-63960800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:63952600-63967000	Weak transcription	Fetal Intestine Large	intestine
41	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:63953600-63959600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:63953800-63958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:63953800-63959600	Weak transcription	Left Ventricle	heart
46	chr14:63953800-63959600	Weak transcription	Right Ventricle	heart
47	chr14:63954000-63958800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:63954000-63959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:63954000-63959600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:63954200-63959000	Weak transcription	Hela-S3	cervix

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