Variant report

Variant	rs242405
Chromosome Location	chr14:56639719-56639720
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	chr14:56637508..56640362-chr14:56648471..56651098,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10483657	0.84[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.80[ASN][1000 genomes]
rs171410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832621	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054492	0.82[TSI][hapmap]
rs2086326	0.82[TSI][hapmap]
rs242397	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242399	0.84[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242401	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242403	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242404	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242408	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242409	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242411	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242412	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs242415	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242416	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783655	0.95[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783673	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783677	0.84[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs3783682	0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[MKK][hapmap]
rs3783683	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs3825619	0.80[ASN][1000 genomes]
rs55724547	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55764336	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56387985	0.83[ASN][1000 genomes]
rs57405940	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58069847	0.80[ASN][1000 genomes]
rs72714350	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717977	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717992	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
3	chr14:56627200-56645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:56633800-56640200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:56633800-56645000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:56634400-56644200	Enhancers	Pancreas	Pancrea
7	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:56635600-56640400	Enhancers	Stomach Mucosa	stomach
9	chr14:56635600-56647200	Weak transcription	Ovary	ovary
10	chr14:56635800-56643800	Weak transcription	Fetal Brain Female	brain
11	chr14:56636000-56640800	Enhancers	Primary T cells from cord blood	blood
12	chr14:56636800-56640000	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:56637200-56640200	Enhancers	Fetal Intestine Small	intestine
14	chr14:56637600-56640000	Enhancers	Fetal Intestine Large	intestine
15	chr14:56637600-56640200	Enhancers	Small Intestine	intestine
16	chr14:56637800-56640400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:56637800-56640400	Enhancers	A549	lung
18	chr14:56638000-56640000	Flanking Active TSS	Dnd41	blood
19	chr14:56638000-56641400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:56638200-56640000	Enhancers	Esophagus	oesophagus
21	chr14:56638200-56640600	Enhancers	Lung	lung
22	chr14:56638200-56641000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:56638200-56641200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:56638400-56639800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:56638400-56644200	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:56638600-56640000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:56638600-56640000	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:56638600-56640200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:56638600-56640400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:56638600-56640600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:56638600-56640600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:56638600-56640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:56638600-56640600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:56638600-56640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:56638800-56639800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:56638800-56639800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:56638800-56640000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:56638800-56640000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:56638800-56640000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:56638800-56640000	Enhancers	Brain Angular Gyrus	brain
41	chr14:56638800-56640000	Enhancers	Brain Anterior Caudate	brain
42	chr14:56638800-56640000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:56638800-56640000	Enhancers	Brain Substantia Nigra	brain
44	chr14:56638800-56640000	Enhancers	Right Atrium	heart
45	chr14:56638800-56640000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:56638800-56640200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:56638800-56640200	Enhancers	Hela-S3	cervix
48	chr14:56638800-56640400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:56638800-56640400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr14:56638800-56640400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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