Variant report

Variant	rs242390
Chromosome Location	chr14:56646809-56646810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56642724..56645085-chr14:56645818..56648163,2	K562	blood:
2	chr14:56646170..56649121-chr14:56682750..56684520,2	K562	blood:
3	chr14:56643621..56646971-chr14:56684832..56688465,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs171411	0.84[AMR][1000 genomes]
rs242385	0.80[AMR][1000 genomes]
rs242392	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242393	0.84[AMR][1000 genomes]
rs242394	0.86[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs242398	0.89[AMR][1000 genomes]
rs242400	0.94[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242406	0.80[AMR][1000 genomes]
rs242407	0.80[AMR][1000 genomes]
rs242410	0.85[AMR][1000 genomes]
rs242413	0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs242414	0.82[AMR][1000 genomes]
rs242417	0.84[AMR][1000 genomes]
rs242419	0.80[AMR][1000 genomes]
rs3783668	0.80[AMR][1000 genomes]
rs402332	0.89[AMR][1000 genomes]
rs4901649	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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:65 , 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	chr14:56635600-56647200	Weak transcription	Ovary	ovary
3	chr14:56639200-56647200	Weak transcription	Left Ventricle	heart
4	chr14:56639200-56662000	Weak transcription	Right Ventricle	heart
5	chr14:56639400-56652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:56639800-56647400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56639800-56647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:56639800-56647400	Weak transcription	Aorta	Aorta
10	chr14:56640000-56647600	Weak transcription	K562	blood
11	chr14:56640000-56648800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:56640000-56652400	Weak transcription	Brain Substantia Nigra	brain
13	chr14:56640000-56652600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:56640000-56652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:56640200-56647600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:56640200-56648000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:56640400-56649600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:56640600-56655800	Weak transcription	NHLF	lung
22	chr14:56640800-56647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:56640800-56648200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:56640800-56653000	Weak transcription	Primary T cells from cord blood	blood
25	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:56643400-56647200	Weak transcription	Gastric	stomach
27	chr14:56643400-56662000	Weak transcription	Spleen	Spleen
28	chr14:56643600-56647800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:56643600-56648200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:56643600-56652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:56643600-56655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:56643600-56662000	Weak transcription	Fetal Kidney	kidney
33	chr14:56644000-56647200	Weak transcription	Psoas Muscle	Psoas
34	chr14:56644000-56647600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:56644000-56652200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:56644000-56662000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:56644200-56652200	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:56644200-56660600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:56644400-56647400	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:56644800-56661000	Weak transcription	Fetal Brain Female	brain
41	chr14:56645000-56647200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:56645000-56647200	Strong transcription	Fetal Thymus	thymus
43	chr14:56645000-56647400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:56645000-56649200	Strong transcription	Primary B cells from cord blood	blood
45	chr14:56645000-56649800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:56645200-56652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:56645400-56647400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:56645400-56647400	Weak transcription	Stomach Mucosa	stomach
49	chr14:56645400-56648200	Weak transcription	Brain Germinal Matrix	brain
50	chr14:56645400-56648200	Weak transcription	Fetal Brain Male	brain

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