Variant report

Variant	rs6573053
Chromosome Location	chr14:56153307-56153308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56102256..56103857-chr14:56152714..56154637,2	K562	blood:
2	chr14:56152134..56154942-chr14:56705477..56707691,2	K562	blood:
3	chr14:56145095..56147248-chr14:56151830..56154443,3	K562	blood:
4	chr14:56145481..56148002-chr14:56152406..56155008,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10136386	0.85[CEU][hapmap]
rs10146870	0.96[CEU][hapmap]
rs10444721	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483644	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10483649	0.81[JPT][hapmap]
rs10483651	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12432344	0.87[ASN][1000 genomes]
rs12432887	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12434609	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434624	0.90[ASN][1000 genomes]
rs12434660	0.89[ASN][1000 genomes]
rs12435643	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12587700	0.93[ASN][1000 genomes]
rs12587705	0.92[ASN][1000 genomes]
rs12587735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588172	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12588185	0.86[ASN][1000 genomes]
rs12589864	0.92[ASN][1000 genomes]
rs12590388	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12590936	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12882850	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12885864	0.93[ASN][1000 genomes]
rs12888809	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12891129	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891526	0.86[EUR][1000 genomes]
rs12893162	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895366	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12897227	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17128614	0.83[JPT][hapmap]
rs17128657	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17128677	0.92[ASN][1000 genomes]
rs17128684	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17128690	0.93[ASN][1000 genomes]
rs17253737	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17684916	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17684959	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17685650	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951887	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951889	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2093800	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2252189	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2274076	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2274078	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2274079	0.90[ASN][1000 genomes]
rs2296182	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2296183	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28458791	0.92[ASN][1000 genomes]
rs28581272	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28703642	0.90[ASN][1000 genomes]
rs34023572	0.82[ASN][1000 genomes]
rs34111199	0.90[ASN][1000 genomes]
rs34133022	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34408323	0.90[ASN][1000 genomes]
rs34548095	0.93[ASN][1000 genomes]
rs34697059	0.93[ASN][1000 genomes]
rs34706911	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34709110	0.87[ASN][1000 genomes]
rs34853759	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34982220	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35094494	0.92[ASN][1000 genomes]
rs35535838	0.91[ASN][1000 genomes]
rs3765515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4457912	0.96[CEU][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes]
rs55927221	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56229542	0.83[ASN][1000 genomes]
rs60233569	0.93[ASN][1000 genomes]
rs6573051	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68127620	0.82[EUR][1000 genomes]
rs7150285	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154548	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7156566	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7158176	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72719463	0.86[EUR][1000 genomes]
rs8003149	0.92[ASN][1000 genomes]
rs8007183	0.85[EUR][1000 genomes]
rs8007832	0.96[CEU][hapmap]
rs8008764	0.87[EUR][1000 genomes]
rs8011252	0.82[EUR][1000 genomes]
rs8015588	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	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:119 , 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	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
9	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:56134000-56155000	Strong transcription	HSMM	muscle
11	chr14:56134200-56153600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:56134600-56154200	Strong transcription	Liver	Liver
13	chr14:56135000-56153400	Strong transcription	Placenta	Placenta
14	chr14:56135200-56153600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:56136600-56154200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:56136800-56153800	Strong transcription	Dnd41	blood
17	chr14:56136800-56154200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:56137000-56153600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr14:56137000-56153800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr14:56137000-56154200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:56137200-56153600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr14:56137200-56154000	Strong transcription	Primary B cells from cord blood	blood
23	chr14:56137400-56153800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:56137400-56154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:56137400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:56137400-56155000	Strong transcription	Adipose Nuclei	Adipose
27	chr14:56138600-56155200	Strong transcription	A549	lung
28	chr14:56138800-56153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:56141400-56154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
31	chr14:56144800-56153800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:56145000-56153600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:56145000-56153600	Strong transcription	NH-A	brain
34	chr14:56145200-56153800	Strong transcription	HUVEC	blood vessel
35	chr14:56145600-56154000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:56145800-56153800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:56145800-56153800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:56145800-56154000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:56145800-56156800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:56145800-56157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:56146000-56153800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:56146400-56153800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:56146400-56155600	Weak transcription	Spleen	Spleen
44	chr14:56146800-56156800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:56146800-56157800	Weak transcription	Fetal Brain Male	brain
46	chr14:56147000-56155200	Weak transcription	Fetal Brain Female	brain
47	chr14:56147400-56154600	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:56147600-56157200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:56147800-56156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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