Variant report

Variant	rs402332
Chromosome Location	chr14:56653732-56653733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56649412..56651282-chr14:56653289..56655501,2	K562	blood:
2	chr14:56653021..56655091-chr14:56684495..56686512,2	K562	blood:
3	chr14:56652145..56654959-chr14:56655814..56657879,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1028972	0.94[EUR][1000 genomes]
rs1152473	0.94[EUR][1000 genomes]
rs1152474	0.94[EUR][1000 genomes]
rs1152476	0.94[EUR][1000 genomes]
rs1152481	0.94[EUR][1000 genomes]
rs1152483	0.94[EUR][1000 genomes]
rs1188692	0.94[EUR][1000 genomes]
rs1479752	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs171411	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979420	0.94[EUR][1000 genomes]
rs242385	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs242390	0.89[AMR][1000 genomes]
rs242392	0.84[AMR][1000 genomes]
rs242393	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242395	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242406	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242410	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs242414	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242417	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242579	0.94[EUR][1000 genomes]
rs242587	0.94[EUR][1000 genomes]
rs242588	0.94[EUR][1000 genomes]
rs242592	0.94[EUR][1000 genomes]
rs242593	0.94[EUR][1000 genomes]
rs242594	0.94[EUR][1000 genomes]
rs34175054	0.94[EUR][1000 genomes]
rs375156	0.94[EUR][1000 genomes]
rs3783668	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs429676	0.94[EUR][1000 genomes]
rs6573087	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7140808	0.94[EUR][1000 genomes]
rs7153057	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153858	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs753109	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs754689	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs754690	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs899603	0.96[EUR][1000 genomes];0.82[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56639200-56662000	Weak transcription	Right Ventricle	heart
3	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
5	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:56640600-56655800	Weak transcription	NHLF	lung
8	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:56643400-56662000	Weak transcription	Spleen	Spleen
10	chr14:56643600-56655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:56643600-56662000	Weak transcription	Fetal Kidney	kidney
12	chr14:56644000-56662000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:56644200-56660600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:56644800-56661000	Weak transcription	Fetal Brain Female	brain
15	chr14:56645400-56660800	Weak transcription	Lung	lung
16	chr14:56645600-56654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:56645600-56659800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:56645600-56661200	Weak transcription	Fetal Stomach	stomach
19	chr14:56645600-56662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:56647200-56662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:56647600-56662000	Weak transcription	Left Ventricle	heart
22	chr14:56647800-56657800	Weak transcription	Fetal Thymus	thymus
23	chr14:56648000-56661800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:56648200-56659800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:56648400-56656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:56649000-56655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:56649000-56659400	Weak transcription	Brain Germinal Matrix	brain
29	chr14:56649000-56660800	Weak transcription	Fetal Brain Male	brain
30	chr14:56649000-56660800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:56649000-56662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:56649200-56654600	Weak transcription	Thymus	Thymus
33	chr14:56649200-56659800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:56649200-56661000	Weak transcription	Primary B cells from cord blood	blood
35	chr14:56649800-56654400	Weak transcription	Ovary	ovary
36	chr14:56649800-56654600	Weak transcription	Pancreas	Pancrea
37	chr14:56649800-56662200	Weak transcription	Gastric	stomach
38	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
39	chr14:56650800-56656000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:56651200-56659800	Weak transcription	NHDF-Ad	bronchial
41	chr14:56652200-56654000	Enhancers	Brain Cingulate Gyrus	brain
42	chr14:56652800-56654800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:56653000-56656000	Weak transcription	Brain Anterior Caudate	brain
44	chr14:56653000-56661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:56653200-56655800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:56653200-56656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:56653200-56656000	Weak transcription	A549	lung
48	chr14:56653200-56660400	Weak transcription	Primary T cells from cord blood	blood
49	chr14:56653200-56660400	Weak transcription	Fetal Intestine Small	intestine
50	chr14:56653200-56662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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