Variant report

Variant	rs242394
Chromosome Location	chr14:56652657-56652658
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56652145..56654959-chr14:56655814..56657879,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10782430	0.95[YRI][hapmap]
rs10782431	0.95[YRI][hapmap]
rs11158081	0.90[YRI][hapmap]
rs11158083	0.82[YRI][hapmap]
rs11158085	0.81[YRI][hapmap]
rs11625060	0.82[YRI][hapmap]
rs11626962	0.91[YRI][hapmap]
rs11627534	0.95[YRI][hapmap]
rs11627862	0.95[YRI][hapmap]
rs11845193	0.90[YRI][hapmap]
rs11847205	0.95[YRI][hapmap]
rs12432184	0.80[YRI][hapmap]
rs12586292	0.95[YRI][hapmap]
rs12590244	0.95[YRI][hapmap]
rs12877991	0.80[YRI][hapmap]
rs12878363	0.90[YRI][hapmap]
rs12879637	0.84[YRI][hapmap]
rs12881396	0.95[YRI][hapmap]
rs12883407	0.95[YRI][hapmap]
rs12884429	0.87[YRI][hapmap]
rs12885416	0.81[YRI][hapmap]
rs12888052	0.82[YRI][hapmap]
rs12888145	0.82[YRI][hapmap]
rs12893611	0.80[YRI][hapmap]
rs12894921	0.82[YRI][hapmap]
rs1471496	0.82[YRI][hapmap]
rs1471497	0.81[YRI][hapmap]
rs1479742	0.95[YRI][hapmap]
rs1479745	0.80[YRI][hapmap]
rs1479746	0.80[YRI][hapmap]
rs1479748	0.80[YRI][hapmap]
rs1552016	0.95[YRI][hapmap]
rs17254064	0.80[YRI][hapmap]
rs1953211	0.80[YRI][hapmap]
rs2228707	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs242390	0.86[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs242392	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs242400	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs242413	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783665	0.95[YRI][hapmap]
rs3783667	0.95[YRI][hapmap]
rs3825618	0.95[YRI][hapmap]
rs3912199	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4898886	0.86[YRI][hapmap]
rs4898890	0.95[YRI][hapmap]
rs4898892	0.80[YRI][hapmap]
rs4901639	0.86[YRI][hapmap]
rs4901640	0.94[YRI][hapmap]
rs4901649	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4901650	0.95[YRI][hapmap]
rs4901652	1.00[YRI][hapmap]
rs4901660	0.80[YRI][hapmap]
rs4901667	0.80[CEU][hapmap]
rs7142227	0.95[YRI][hapmap]
rs7156562	0.95[YRI][hapmap]
rs7161696	0.90[YRI][hapmap]
rs8004311	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs8006111	0.95[YRI][hapmap]
rs8014215	0.81[YRI][hapmap]
rs8014516	0.85[YRI][hapmap]
rs8014521	0.95[YRI][hapmap]
rs8014536	0.80[YRI][hapmap]
rs8015347	0.82[YRI][hapmap]
rs8016951	0.95[YRI][hapmap]
rs899605	0.82[YRI][hapmap]
rs9646155	0.80[YRI][hapmap]

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:58 , 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	chr14:56639400-56652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:56640000-56652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
7	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:56640600-56655800	Weak transcription	NHLF	lung
10	chr14:56640800-56653000	Weak transcription	Primary T cells from cord blood	blood
11	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:56643400-56662000	Weak transcription	Spleen	Spleen
13	chr14:56643600-56652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:56643600-56655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:56643600-56662000	Weak transcription	Fetal Kidney	kidney
16	chr14:56644000-56662000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:56644200-56660600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:56644800-56661000	Weak transcription	Fetal Brain Female	brain
19	chr14:56645200-56652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:56645400-56660800	Weak transcription	Lung	lung
21	chr14:56645600-56652800	Weak transcription	Fetal Intestine Small	intestine
22	chr14:56645600-56654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:56645600-56659800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:56645600-56661200	Weak transcription	Fetal Stomach	stomach
25	chr14:56645600-56662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:56647200-56662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:56647600-56652800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:56647600-56662000	Weak transcription	Left Ventricle	heart
29	chr14:56647800-56652800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:56647800-56652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:56647800-56657800	Weak transcription	Fetal Thymus	thymus
32	chr14:56648000-56661800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:56648200-56659800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:56648400-56656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:56649000-56655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:56649000-56659400	Weak transcription	Brain Germinal Matrix	brain
38	chr14:56649000-56660800	Weak transcription	Fetal Brain Male	brain
39	chr14:56649000-56660800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:56649000-56662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:56649200-56654600	Weak transcription	Thymus	Thymus
42	chr14:56649200-56659800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:56649200-56661000	Weak transcription	Primary B cells from cord blood	blood
44	chr14:56649800-56652800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:56649800-56653600	Enhancers	Dnd41	blood
46	chr14:56649800-56654400	Weak transcription	Ovary	ovary
47	chr14:56649800-56654600	Weak transcription	Pancreas	Pancrea
48	chr14:56649800-56662200	Weak transcription	Gastric	stomach
49	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
50	chr14:56650800-56656000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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