Variant report

Variant	rs229256
Chromosome Location	chr14:31064023-31064024
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	chr14:31059211..31061882-chr14:31063062..31064842,2	K562	blood:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10131312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140887	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10143215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10143362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148858	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.91[EUR][1000 genomes]
rs10483365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622971	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11624441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs11628947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17096955	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17097075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17097077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17097124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17097127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17348844	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17364127	0.91[EUR][1000 genomes]
rs2124159	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.91[EUR][1000 genomes]
rs229140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229142	0.96[ASN][1000 genomes]
rs229165	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229204	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229239	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229242	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap]
rs230342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230345	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230354	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs230357	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28435745	0.91[EUR][1000 genomes]
rs28662978	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28679478	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs392101	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455614	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981073	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981760	0.92[ASN][1000 genomes]
rs4981763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981769	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57057168	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60495706	0.91[EUR][1000 genomes]
rs6571360	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7140980	0.91[EUR][1000 genomes]
rs7147237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152647	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156485	0.91[EUR][1000 genomes]
rs7158970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161321	0.91[EUR][1000 genomes]
rs8004335	0.92[ASN][1000 genomes]
rs8011610	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012506	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014225	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs880979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
5	chr14:31033800-31070000	Weak transcription	Lung	lung
6	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:31043000-31079600	Weak transcription	Gastric	stomach
8	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
9	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
10	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
12	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
14	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:31050800-31067800	Weak transcription	Ovary	ovary
17	chr14:31051800-31064600	Strong transcription	HSMM	muscle
18	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
19	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
20	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
21	chr14:31053800-31067600	Weak transcription	Brain Anterior Caudate	brain
22	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:31054400-31066800	Weak transcription	Brain Germinal Matrix	brain
26	chr14:31054600-31066800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:31054600-31068000	Weak transcription	HSMMtube	muscle
28	chr14:31054800-31066800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:31054800-31066800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:31054800-31072000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:31055200-31065000	Strong transcription	Osteobl	bone
34	chr14:31055400-31067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:31055400-31069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:31055400-31070000	Weak transcription	Colonic Mucosa	Colon
37	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:31056200-31067600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:31056600-31065200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:31057000-31067400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:31057000-31067400	Weak transcription	Thymus	Thymus
42	chr14:31057200-31071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
46	chr14:31058800-31065000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:31058800-31069800	Weak transcription	Spleen	Spleen
48	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:31059200-31069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:31059400-31067600	Weak transcription	Fetal Brain Female	brain

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