Variant report

Variant	rs72952281
Chromosome Location	chr4:106376968-106376969
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	chr4:106375361..106377809-chr4:106379253..106381049,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11097889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11097890	0.80[AFR][1000 genomes]
rs11737582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108243	0.80[AFR][1000 genomes]
rs12108480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108594	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035483	1.00[AMR][1000 genomes]
rs17035566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035569	0.85[AFR][1000 genomes]
rs17035594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28417349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41485844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41505250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57620916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57624740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734979	1.00[AMR][1000 genomes]
rs72950516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950550	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950601	0.80[AFR][1000 genomes]
rs72952256	0.80[AFR][1000 genomes]
rs72952259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952362	1.00[AMR][1000 genomes]
rs72952393	1.00[AMR][1000 genomes]
rs72962224	1.00[AMR][1000 genomes]
rs72962234	1.00[AMR][1000 genomes]
rs72962246	1.00[AMR][1000 genomes]
rs72962257	1.00[AMR][1000 genomes]
rs72962270	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962273	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963039	1.00[AMR][1000 genomes]
rs72964211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964228	0.83[AFR][1000 genomes]
rs72964242	0.85[AFR][1000 genomes]
rs72964244	0.85[AFR][1000 genomes]
rs72964262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964271	0.85[AFR][1000 genomes]
rs72964288	0.85[AFR][1000 genomes]
rs7695564	1.00[AMR][1000 genomes]
rs9968337	0.85[AFR][1000 genomes]
rs9968402	0.85[AFR][1000 genomes]
rs9968408	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
2	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:106336800-106387800	Weak transcription	NHLF	lung
4	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
6	chr4:106348000-106388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:106348200-106387800	Weak transcription	Lung	lung
8	chr4:106348200-106393000	Weak transcription	Thymus	Thymus
9	chr4:106348400-106384200	Weak transcription	Fetal Stomach	stomach
10	chr4:106348600-106384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:106355400-106378800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:106355400-106393200	Weak transcription	Esophagus	oesophagus
13	chr4:106357200-106381000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:106357200-106381000	Weak transcription	Brain Substantia Nigra	brain
15	chr4:106357200-106387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:106357200-106392600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:106357600-106392200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:106359000-106378800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:106359000-106382400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:106359000-106387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:106359200-106382200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:106359600-106379800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:106361200-106378000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:106361400-106379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:106361800-106387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:106362200-106392600	Weak transcription	A549	lung
27	chr4:106362400-106379000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:106363400-106377600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:106363800-106390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:106364000-106378000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:106364400-106384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:106364600-106378800	Weak transcription	Aorta	Aorta
33	chr4:106364600-106382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:106364600-106392000	Weak transcription	Brain Anterior Caudate	brain
35	chr4:106364600-106392600	Weak transcription	Fetal Kidney	kidney
36	chr4:106365200-106380800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:106365600-106377400	Weak transcription	HSMM	muscle
38	chr4:106365800-106387600	Weak transcription	Placenta	Placenta
39	chr4:106366000-106384600	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:106366000-106392400	Weak transcription	Osteobl	bone
41	chr4:106366000-106392600	Weak transcription	Psoas Muscle	Psoas
42	chr4:106366600-106380800	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:106366600-106392200	Weak transcription	Liver	Liver
44	chr4:106366600-106392200	Weak transcription	HepG2	liver
45	chr4:106366600-106392600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:106366800-106393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:106367800-106384600	Weak transcription	Fetal Intestine Large	intestine
48	chr4:106368200-106392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:106369400-106388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:106369600-106388000	Weak transcription	Hela-S3	cervix

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