Variant report

Variant	rs35420484
Chromosome Location	chr14:56062400-56062401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56057726..56060571-chr14:56061645..56063881,2	K562	blood:
2	chr14:56060669..56063373-chr14:56064902..56067658,2	K562	blood:
3	chr14:56055222..56057349-chr14:56060452..56063335,3	K562	blood:
4	chr14:56046168..56050032-chr14:56060605..56067298,7	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction
ENSG00000186615	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10146870	0.86[ASN][1000 genomes]
rs10483644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10483649	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12432588	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12432887	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12433592	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434624	0.89[EUR][1000 genomes]
rs12434660	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12434799	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435643	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12587700	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12587705	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12589864	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12589867	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590388	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12590936	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12882850	0.86[ASN][1000 genomes]
rs12885864	0.82[EUR][1000 genomes]
rs12888809	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12895070	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12897227	0.88[ASN][1000 genomes]
rs17128610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17128655	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17128657	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17128677	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17128684	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128690	0.83[EUR][1000 genomes]
rs1951889	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1951890	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2093800	0.88[ASN][1000 genomes]
rs2252189	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2274076	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2274078	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2274079	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2341889	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28458791	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28703642	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34023572	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34111199	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34118806	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34184813	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34408323	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34548095	0.83[EUR][1000 genomes]
rs34697059	0.85[EUR][1000 genomes]
rs34709110	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34931260	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35047443	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35094494	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35451981	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35535838	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35560341	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35790844	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4457912	0.93[ASN][1000 genomes]
rs55760841	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229542	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60233569	0.83[EUR][1000 genomes]
rs61381603	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573051	0.82[ASN][1000 genomes]
rs68127620	0.86[ASN][1000 genomes]
rs7154548	0.88[ASN][1000 genomes]
rs7156566	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72719463	0.94[ASN][1000 genomes]
rs8003149	0.82[EUR][1000 genomes]
rs8006443	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007183	0.89[ASN][1000 genomes]
rs8007832	0.84[ASN][1000 genomes]
rs8008764	0.89[ASN][1000 genomes]
rs8011252	0.88[ASN][1000 genomes]
rs8015588	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
3	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:56051200-56066200	Weak transcription	Colonic Mucosa	Colon
6	chr14:56051200-56069000	Weak transcription	Primary B cells from cord blood	blood
7	chr14:56052000-56066200	Weak transcription	Pancreas	Pancrea
8	chr14:56052000-56068400	Weak transcription	Left Ventricle	heart
9	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:56053200-56069400	Weak transcription	Aorta	Aorta
11	chr14:56055200-56066400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56055200-56069200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:56055400-56065800	Weak transcription	Fetal Lung	lung
14	chr14:56055800-56067200	Weak transcription	HSMMtube	muscle
15	chr14:56056000-56067000	Weak transcription	NHDF-Ad	bronchial
16	chr14:56056200-56067200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:56056200-56067200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:56056200-56067200	Weak transcription	HMEC	breast
19	chr14:56056200-56068400	Weak transcription	Right Ventricle	heart
20	chr14:56056200-56076000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:56056400-56066000	Weak transcription	Psoas Muscle	Psoas
22	chr14:56056400-56067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:56056400-56067000	Weak transcription	HSMM	muscle
24	chr14:56056400-56067200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:56056400-56067200	Weak transcription	NHLF	lung
26	chr14:56057200-56065400	Enhancers	HepG2	liver
27	chr14:56058600-56064200	Enhancers	Liver	Liver
28	chr14:56058600-56070600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:56059200-56067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:56059400-56063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:56059400-56066200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:56059400-56070000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:56059800-56064000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:56059800-56065400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:56059800-56069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:56060200-56062400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:56060400-56065400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:56060400-56072000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:56060600-56063000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:56060800-56063000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:56060800-56066200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:56060800-56067600	Weak transcription	Ovary	ovary
43	chr14:56060800-56067800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:56060800-56069600	Weak transcription	Small Intestine	intestine
45	chr14:56061000-56065400	Weak transcription	Hela-S3	cervix
46	chr14:56061000-56066000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:56061000-56066000	Weak transcription	K562	blood
48	chr14:56061000-56066200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:56061000-56066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:56061000-56066400	Weak transcription	NH-A	brain

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