Variant report

Variant	rs4279900
Chromosome Location	chr1:170006719-170006720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170001773..170004405-chr1:170006307..170009293,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158922	1.00[AMR][1000 genomes]
rs10218486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs10919308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12025296	1.00[EUR][1000 genomes]
rs12044536	1.00[EUR][1000 genomes]
rs12061373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061500	1.00[AMR][1000 genomes]
rs12061626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066551	1.00[EUR][1000 genomes]
rs12071325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073288	1.00[EUR][1000 genomes]
rs12075569	1.00[EUR][1000 genomes]
rs12076018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077708	1.00[EUR][1000 genomes]
rs12079608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084420	1.00[AMR][1000 genomes]
rs12087450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103641	1.00[EUR][1000 genomes]
rs2272912	1.00[EUR][1000 genomes]
rs2901261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038529	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023593	1.00[EUR][1000 genomes]
rs73041148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531947	1.00[EUR][1000 genomes]
rs989054	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats 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 miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
6	chr1:169968800-170010800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
8	chr1:169969000-170012600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
10	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:169979800-170015200	Weak transcription	HMEC	breast
12	chr1:169981600-170013400	Weak transcription	Lung	lung
13	chr1:169982400-170020600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:169983000-170017200	Weak transcription	HSMMtube	muscle
15	chr1:169983800-170017600	Weak transcription	Spleen	Spleen
16	chr1:169984600-170020800	Weak transcription	Gastric	stomach
17	chr1:169984800-170027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:169985000-170010800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:169985000-170012800	Weak transcription	Brain Anterior Caudate	brain
20	chr1:169985200-170020400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:169985800-170010800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:169985800-170010800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:169986200-170010600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:169986400-170013600	Weak transcription	Left Ventricle	heart
25	chr1:169986400-170019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:169988000-170017600	Weak transcription	Fetal Lung	lung
27	chr1:169989600-170019800	Weak transcription	Right Ventricle	heart
28	chr1:169989800-170013400	Weak transcription	Psoas Muscle	Psoas
29	chr1:169990400-170017200	Weak transcription	Fetal Kidney	kidney
30	chr1:169993600-170010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:169993600-170021400	Weak transcription	Fetal Brain Male	brain
32	chr1:169995400-170017800	Weak transcription	Pancreas	Pancrea
33	chr1:169996800-170010000	Weak transcription	Brain Germinal Matrix	brain
34	chr1:169997200-170010600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:169997200-170010800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:169997200-170012400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:169997400-170012000	Weak transcription	Primary B cells from cord blood	blood
38	chr1:169997800-170010000	Weak transcription	Fetal Stomach	stomach
39	chr1:169997800-170010600	Weak transcription	Fetal Thymus	thymus
40	chr1:169997800-170017600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:169997800-170018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:169998000-170010600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:169998000-170011400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:169998200-170010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:169999800-170017600	Weak transcription	Colonic Mucosa	Colon
46	chr1:169999800-170036600	Weak transcription	Small Intestine	intestine
47	chr1:170000800-170014200	Weak transcription	Placenta	Placenta
48	chr1:170001200-170012400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:170001800-170008800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:170001800-170016200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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