Variant report

Variant	rs12587700
Chromosome Location	chr14:56155081-56155082
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	chr14:56149406..56151839-chr14:56154721..56157088,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10444721	0.95[ASN][1000 genomes]
rs10483644	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483649	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483651	0.95[ASN][1000 genomes]
rs12432344	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432588	0.80[EUR][1000 genomes]
rs12432887	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433592	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434609	0.92[ASN][1000 genomes]
rs12434624	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434660	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434799	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435643	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587705	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587735	0.95[ASN][1000 genomes]
rs12588172	0.88[ASN][1000 genomes]
rs12588185	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12589864	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589867	0.82[EUR][1000 genomes]
rs12590388	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590936	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882850	0.80[ASN][1000 genomes]
rs12885864	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888809	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891129	0.95[ASN][1000 genomes]
rs12893162	0.95[ASN][1000 genomes]
rs12895070	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12895366	0.95[ASN][1000 genomes]
rs17128610	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128614	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128655	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17128657	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128677	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17128684	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128690	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253737	0.95[ASN][1000 genomes]
rs17684916	0.93[ASN][1000 genomes]
rs17684959	0.87[ASN][1000 genomes]
rs17685650	0.95[ASN][1000 genomes]
rs1951887	0.92[ASN][1000 genomes]
rs1951889	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951890	0.84[EUR][1000 genomes]
rs2252189	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274076	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274078	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274079	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296183	0.95[ASN][1000 genomes]
rs2341889	0.80[EUR][1000 genomes]
rs28458791	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581272	0.86[ASN][1000 genomes]
rs28703642	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34023572	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34111199	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34118806	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34133022	0.95[ASN][1000 genomes]
rs34184813	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34408323	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34548095	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34697059	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34706911	0.92[ASN][1000 genomes]
rs34709110	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34853759	0.95[ASN][1000 genomes]
rs34931260	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34982220	0.95[ASN][1000 genomes]
rs35047443	0.85[EUR][1000 genomes]
rs35094494	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35420484	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35451981	0.82[EUR][1000 genomes]
rs35531912	0.83[EUR][1000 genomes]
rs35535838	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35560341	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35790844	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55760841	0.82[EUR][1000 genomes]
rs55927221	0.95[ASN][1000 genomes]
rs56229542	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60233569	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61381603	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573051	0.82[ASN][1000 genomes]
rs6573053	0.93[ASN][1000 genomes]
rs6573054	0.95[ASN][1000 genomes]
rs7150285	0.95[ASN][1000 genomes]
rs7156566	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158176	0.95[ASN][1000 genomes]
rs8003149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006443	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015588	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
4	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
7	chr14:56138600-56155200	Strong transcription	A549	lung
8	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
9	chr14:56145800-56156800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:56145800-56157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:56146400-56155600	Weak transcription	Spleen	Spleen
12	chr14:56146800-56156800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:56146800-56157800	Weak transcription	Fetal Brain Male	brain
14	chr14:56147000-56155200	Weak transcription	Fetal Brain Female	brain
15	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:56147600-56157200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:56147800-56156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:56147800-56156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:56147800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:56148000-56161800	Weak transcription	Pancreas	Pancrea
21	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:56148400-56165600	Weak transcription	NHDF-Ad	bronchial
23	chr14:56150800-56157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:56151000-56155600	Strong transcription	Primary T cells from cord blood	blood
25	chr14:56151200-56165800	Weak transcription	Hela-S3	cervix
26	chr14:56152200-56162200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:56152400-56157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:56152400-56159400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:56152600-56156200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:56152800-56155200	Weak transcription	HepG2	liver
31	chr14:56152800-56156800	Weak transcription	Fetal Lung	lung
32	chr14:56152800-56157000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:56152800-56157200	Weak transcription	Psoas Muscle	Psoas
34	chr14:56152800-56164400	Weak transcription	HMEC	breast
35	chr14:56153000-56155200	Weak transcription	Fetal Thymus	thymus
36	chr14:56153000-56156800	Weak transcription	NHEK	skin
37	chr14:56153000-56157400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:56153000-56167800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:56153200-56160000	Weak transcription	Fetal Heart	heart
40	chr14:56153400-56155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:56153400-56155200	Weak transcription	Placenta	Placenta
42	chr14:56153400-56155400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:56153400-56157400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:56153400-56174000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:56153600-56155200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:56153600-56155200	Weak transcription	NHLF	lung
47	chr14:56153600-56156600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:56153600-56157000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:56153600-56157600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:56153600-56162400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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