Variant report

Variant	rs2148533
Chromosome Location	chr6:35832824-35832825
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	chr6:35825613..35827304-chr6:35830007..35832930,2	K562	blood:
2	chr6:35830371..35833197-chr6:35885188..35887117,3	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10484264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1049649	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10947572	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947574	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947576	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1160827	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1160828	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11755428	0.81[EUR][1000 genomes]
rs11964319	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11968149	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12528878	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1326752	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1326753	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326756	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17653835	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17654270	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17705020	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1887170	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2038962	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2051647	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182546	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2250151	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2301510	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2395638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395640	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395641	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2395643	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395644	0.95[EUR][1000 genomes]
rs2395645	0.97[EUR][1000 genomes]
rs2395646	0.89[EUR][1000 genomes]
rs2766525	0.80[EUR][1000 genomes]
rs2817023	0.81[EUR][1000 genomes]
rs2817027	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761981	0.81[EUR][1000 genomes]
rs3891863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3997732	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4340986	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs582526	0.85[EUR][1000 genomes]
rs59190698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595591	0.84[EUR][1000 genomes]
rs613540	0.83[EUR][1000 genomes]
rs619264	0.92[EUR][1000 genomes]
rs637661	0.92[EUR][1000 genomes]
rs639421	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs640867	0.82[EUR][1000 genomes]
rs644229	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6457857	0.81[EUR][1000 genomes]
rs6457858	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6457859	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6457860	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457862	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6457864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs657036	0.84[EUR][1000 genomes]
rs659532	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs661337	0.92[EUR][1000 genomes]
rs661658	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs662713	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs668438	0.83[EUR][1000 genomes]
rs671992	0.85[EUR][1000 genomes]
rs675664	0.89[EUR][1000 genomes]
rs677937	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6905144	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906455	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6908433	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6909895	0.80[EUR][1000 genomes]
rs6910260	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6910906	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6911849	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916941	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6920862	0.80[EUR][1000 genomes]
rs6921531	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6922695	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923015	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923312	0.86[EUR][1000 genomes]
rs6926156	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6929493	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6931888	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6932973	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6933287	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs721694	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72919002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7740886	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7741794	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7744924	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7749862	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7752551	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7755022	0.80[EUR][1000 genomes]
rs7755600	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7758042	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7763752	0.89[EUR][1000 genomes]
rs7774060	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7776342	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs879668	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880062	0.81[EUR][1000 genomes]
rs9296166	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9296168	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462125	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462128	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462131	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462134	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462135	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462136	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9462143	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9462144	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470111	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470118	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470119	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9470120	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470121	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470122	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470123	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470124	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470125	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470126	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470130	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470131	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470136	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470138	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470139	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470140	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470141	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470142	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470144	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470151	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470154	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470155	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9470156	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9470157	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470161	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9470162	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9470166	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470167	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470169	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470171	0.82[EUR][1000 genomes]
rs9470172	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470173	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[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	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35787800-35855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:35799600-35837200	Weak transcription	Fetal Kidney	kidney
3	chr6:35800600-35859000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:35801000-35840600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:35801200-35837200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:35801200-35849000	Strong transcription	Dnd41	blood
7	chr6:35804400-35849000	Strong transcription	K562	blood
8	chr6:35806800-35844800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:35807000-35860400	Weak transcription	Brain Angular Gyrus	brain
10	chr6:35812400-35850200	Weak transcription	Stomach Mucosa	stomach
11	chr6:35813400-35833000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:35815800-35840600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr6:35816800-35836400	Weak transcription	Psoas Muscle	Psoas
14	chr6:35816800-35844000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:35817000-35859000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:35817400-35839200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:35817400-35848200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:35819000-35839800	Weak transcription	Fetal Heart	heart
19	chr6:35821600-35834400	Weak transcription	HSMMtube	muscle
20	chr6:35821800-35841200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr6:35822200-35837800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:35824400-35837000	Weak transcription	Small Intestine	intestine
23	chr6:35824400-35858400	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:35824400-35863800	Weak transcription	Right Ventricle	heart
25	chr6:35824600-35836800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:35824800-35837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:35824800-35847200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:35825000-35833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:35825000-35836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:35825000-35885600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:35825200-35834000	Weak transcription	Ovary	ovary
32	chr6:35825200-35834400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:35825200-35836400	Weak transcription	Fetal Brain Male	brain
34	chr6:35825200-35836800	Weak transcription	NHDF-Ad	bronchial
35	chr6:35825200-35837000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:35825200-35848600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:35825200-35874600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:35825400-35856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:35826200-35840600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr6:35826400-35858800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:35826800-35844400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:35827000-35835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:35827000-35858800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:35828000-35835200	Strong transcription	A549	lung
45	chr6:35829000-35833400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:35829000-35834400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:35829000-35834600	Weak transcription	Fetal Lung	lung
48	chr6:35829000-35836800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:35829000-35837000	Weak transcription	Brain Substantia Nigra	brain
50	chr6:35829200-35834600	Weak transcription	Stomach Smooth Muscle	stomach

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