Variant report

Variant	rs55990831
Chromosome Location	chr6:71167382-71167383
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	chr6:71104620..71107220-chr6:71165268..71168760,3	K562	blood:
2	chr6:71160978..71162736-chr6:71166196..71168492,3	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10214805	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10455706	0.82[EUR][1000 genomes]
rs1075263	0.84[EUR][1000 genomes]
rs10945230	0.91[EUR][1000 genomes]
rs10945231	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10945235	0.81[EUR][1000 genomes]
rs11965656	0.96[EUR][1000 genomes]
rs1208480	0.86[EUR][1000 genomes]
rs12180997	0.80[EUR][1000 genomes]
rs12191321	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12197942	0.91[EUR][1000 genomes]
rs12197963	0.91[EUR][1000 genomes]
rs12200777	0.87[EUR][1000 genomes]
rs12201029	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12203089	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203298	0.91[EUR][1000 genomes]
rs12209965	0.91[EUR][1000 genomes]
rs12216376	0.91[EUR][1000 genomes]
rs12524814	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12525538	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12525777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526164	0.94[EUR][1000 genomes]
rs12526787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526827	0.96[EUR][1000 genomes]
rs12526961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527634	0.95[EUR][1000 genomes]
rs12528385	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528391	0.85[EUR][1000 genomes]
rs12528866	0.96[EUR][1000 genomes]
rs12529284	0.92[EUR][1000 genomes]
rs12529309	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12529984	0.85[EUR][1000 genomes]
rs12530057	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12530358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869170	0.84[EUR][1000 genomes]
rs16869267	0.96[EUR][1000 genomes]
rs16869340	0.84[EUR][1000 genomes]
rs16869353	0.92[EUR][1000 genomes]
rs16869370	0.83[EUR][1000 genomes]
rs16869371	0.92[EUR][1000 genomes]
rs16869373	0.92[EUR][1000 genomes]
rs1739338	0.88[EUR][1000 genomes]
rs17634272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17634491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17635446	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17635510	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17706748	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17706833	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17713105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713212	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713547	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2207423	0.94[EUR][1000 genomes]
rs2207425	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2273210	0.96[EUR][1000 genomes]
rs2293297	0.92[EUR][1000 genomes]
rs2295200	0.95[EUR][1000 genomes]
rs2346889	0.84[EUR][1000 genomes]
rs2346890	0.95[EUR][1000 genomes]
rs2639291	0.88[EUR][1000 genomes]
rs2639297	0.86[EUR][1000 genomes]
rs2747702	0.81[EUR][1000 genomes]
rs2842063	0.85[EUR][1000 genomes]
rs3193656	0.92[EUR][1000 genomes]
rs34246525	0.87[EUR][1000 genomes]
rs35159719	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3846750	0.89[EUR][1000 genomes]
rs3889007	0.89[EUR][1000 genomes]
rs41265349	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4283855	0.85[EUR][1000 genomes]
rs4496758	0.85[EUR][1000 genomes]
rs45460797	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55639214	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55761717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968813	0.94[EUR][1000 genomes]
rs55990553	0.91[EUR][1000 genomes]
rs56074506	0.92[EUR][1000 genomes]
rs56114703	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56143128	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56179165	0.92[EUR][1000 genomes]
rs56322111	0.92[EUR][1000 genomes]
rs56397968	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58144467	0.84[EUR][1000 genomes]
rs58370765	0.83[EUR][1000 genomes]
rs58637377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59275635	0.95[EUR][1000 genomes]
rs59698166	0.93[EUR][1000 genomes]
rs61223738	0.85[EUR][1000 genomes]
rs6455370	0.84[EUR][1000 genomes]
rs6900840	0.88[EUR][1000 genomes]
rs6901904	0.96[EUR][1000 genomes]
rs6906592	0.88[EUR][1000 genomes]
rs6911812	0.88[EUR][1000 genomes]
rs6911983	0.92[EUR][1000 genomes]
rs6913548	0.95[EUR][1000 genomes]
rs6916974	0.92[EUR][1000 genomes]
rs6918393	0.88[EUR][1000 genomes]
rs6919794	0.86[EUR][1000 genomes]
rs6932470	0.85[EUR][1000 genomes]
rs6933150	0.95[EUR][1000 genomes]
rs6933337	0.85[EUR][1000 genomes]
rs6940416	0.83[EUR][1000 genomes]
rs6941595	0.92[EUR][1000 genomes]
rs6942012	0.84[EUR][1000 genomes]
rs73474927	0.85[EUR][1000 genomes]
rs73474934	0.85[EUR][1000 genomes]
rs73474937	0.84[EUR][1000 genomes]
rs73474966	0.85[EUR][1000 genomes]
rs73474998	0.96[EUR][1000 genomes]
rs73478819	0.96[EUR][1000 genomes]
rs73480275	0.91[EUR][1000 genomes]
rs73480280	0.91[EUR][1000 genomes]
rs73482554	0.96[EUR][1000 genomes]
rs73482557	0.96[EUR][1000 genomes]
rs73482585	0.96[EUR][1000 genomes]
rs73489091	0.81[EUR][1000 genomes]
rs7450771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7739517	0.84[EUR][1000 genomes]
rs7740873	0.87[EUR][1000 genomes]
rs7741265	0.84[EUR][1000 genomes]
rs7742044	0.81[EUR][1000 genomes]
rs7752409	0.88[EUR][1000 genomes]
rs7753355	0.86[EUR][1000 genomes]
rs7756774	0.92[EUR][1000 genomes]
rs7757026	0.91[EUR][1000 genomes]
rs7759464	0.89[EUR][1000 genomes]
rs7766075	0.89[EUR][1000 genomes]
rs7769582	0.86[EUR][1000 genomes]
rs7773794	0.84[EUR][1000 genomes]
rs7775962	0.88[EUR][1000 genomes]
rs9283835	0.85[EUR][1000 genomes]
rs9294868	0.89[EUR][1000 genomes]
rs9294871	0.92[EUR][1000 genomes]
rs9294872	0.96[EUR][1000 genomes]
rs9294874	0.88[EUR][1000 genomes]
rs9294876	0.84[EUR][1000 genomes]
rs9446245	0.88[EUR][1000 genomes]
rs9446246	0.81[EUR][1000 genomes]
rs9446248	0.89[EUR][1000 genomes]
rs9446252	0.86[EUR][1000 genomes]
rs9446258	0.85[EUR][1000 genomes]
rs9446267	0.84[EUR][1000 genomes]
rs9455093	0.82[EUR][1000 genomes]
rs9455094	0.89[EUR][1000 genomes]
rs9455097	0.89[EUR][1000 genomes]
rs9455101	0.89[EUR][1000 genomes]
rs9455104	0.85[EUR][1000 genomes]
rs9455105	0.83[EUR][1000 genomes]
rs9455113	0.96[EUR][1000 genomes]
rs9455114	0.94[EUR][1000 genomes]
rs9455121	0.96[EUR][1000 genomes]
rs9455130	0.88[EUR][1000 genomes]
rs9455132	0.85[EUR][1000 genomes]
rs9455139	0.92[EUR][1000 genomes]
rs9455140	0.92[EUR][1000 genomes]
rs9455144	0.85[EUR][1000 genomes]
rs9455150	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455151	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455158	0.84[EUR][1000 genomes]
rs9455160	0.84[EUR][1000 genomes]
rs9455161	0.92[EUR][1000 genomes]
rs9455162	0.91[EUR][1000 genomes]
rs9455163	0.91[EUR][1000 genomes]
rs9455181	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:71125400-71188800	Weak transcription	HSMM	muscle
4	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:71130200-71185400	Weak transcription	K562	blood
6	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:71141400-71183400	Weak transcription	Right Ventricle	heart
9	chr6:71141400-71186800	Weak transcription	Fetal Brain Female	brain
10	chr6:71148800-71183200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:71149000-71183000	Weak transcription	Fetal Kidney	kidney
12	chr6:71149000-71185600	Weak transcription	Aorta	Aorta
13	chr6:71153200-71183200	Weak transcription	HepG2	liver
14	chr6:71154600-71188800	Weak transcription	Fetal Heart	heart
15	chr6:71155000-71185400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:71155400-71184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:71158000-71168200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:71158200-71183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:71158200-71183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:71158200-71185600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
22	chr6:71158400-71169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:71158400-71171600	Weak transcription	Fetal Lung	lung
24	chr6:71158400-71178200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:71158400-71183200	Weak transcription	Esophagus	oesophagus
26	chr6:71158400-71183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:71158400-71183400	Weak transcription	Ovary	ovary
28	chr6:71158400-71183600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:71158400-71184000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:71158400-71186800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:71158400-71198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:71158400-71213600	Weak transcription	NHEK	skin
33	chr6:71158600-71172800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:71158600-71183600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:71158800-71169600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:71158800-71179600	Weak transcription	Fetal Stomach	stomach
37	chr6:71158800-71182800	Weak transcription	Adipose Nuclei	Adipose
38	chr6:71158800-71182800	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:71158800-71183200	Weak transcription	Pancreas	Pancrea
40	chr6:71158800-71183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
42	chr6:71159200-71168200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:71159200-71170600	Weak transcription	Primary B cells from cord blood	blood
44	chr6:71159400-71183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:71159800-71175200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:71159800-71182400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:71159800-71183400	Weak transcription	Liver	Liver
48	chr6:71162800-71175600	Weak transcription	GM12878-XiMat	blood
49	chr6:71162800-71182800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:71162800-71183200	Weak transcription	Placenta	Placenta

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