Variant report

Variant	rs12216833
Chromosome Location	chr8:48274655-48274656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48274508..48277546-chr8:48285715..48288679,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10107926	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10481296	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1552667	1.00[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs16925570	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs16927307	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs55841214	0.92[EUR][1000 genomes]
rs55918561	0.96[EUR][1000 genomes]
rs56107210	0.94[EUR][1000 genomes]
rs56391539	0.92[EUR][1000 genomes]
rs58828084	0.94[EUR][1000 genomes]
rs6472453	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs6989958	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6992107	1.00[YRI][hapmap]
rs6992139	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7011833	0.90[EUR][1000 genomes]
rs72644585	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72644587	0.87[EUR][1000 genomes]
rs72644597	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72644602	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72646317	0.92[EUR][1000 genomes]
rs72646321	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72646324	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72646330	0.93[EUR][1000 genomes]
rs72646348	0.96[EUR][1000 genomes]
rs72646350	0.96[EUR][1000 genomes]
rs7822371	0.94[EUR][1000 genomes]
rs7824929	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7829543	0.96[EUR][1000 genomes]
rs7834901	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7839055	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9643810	0.87[EUR][1000 genomes]
rs9650144	1.00[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	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription 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	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
2	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
3	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:48256400-48276200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48256400-48276800	Weak transcription	Dnd41	blood
8	chr8:48256400-48281000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
10	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:48264400-48276000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:48265600-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:48266600-48277400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:48266600-48278800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:48266800-48276000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:48266800-48276400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:48266800-48276800	Weak transcription	Brain Substantia Nigra	brain
19	chr8:48266800-48277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:48266800-48277600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:48266800-48280200	Weak transcription	Primary B cells from cord blood	blood
22	chr8:48266800-48290200	Weak transcription	HSMMtube	muscle
23	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:48267000-48276400	Weak transcription	HepG2	liver
25	chr8:48267000-48295400	Weak transcription	HSMM	muscle
26	chr8:48267200-48276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:48267800-48276200	Weak transcription	Right Atrium	heart
28	chr8:48267800-48276800	Weak transcription	Lung	lung
29	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:48268600-48276200	Weak transcription	Left Ventricle	heart
31	chr8:48268800-48275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:48268800-48276200	Weak transcription	Liver	Liver
33	chr8:48269800-48276200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:48269800-48281200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:48270000-48274800	Weak transcription	Adipose Nuclei	Adipose
36	chr8:48270000-48282000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:48270200-48276800	Weak transcription	Psoas Muscle	Psoas
38	chr8:48270600-48274800	Weak transcription	Fetal Kidney	kidney
39	chr8:48270600-48277400	Weak transcription	Brain Anterior Caudate	brain
40	chr8:48271600-48277400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:48272200-48274800	Enhancers	GM12878-XiMat	blood
42	chr8:48272200-48280400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:48272400-48274800	Weak transcription	Hela-S3	cervix
44	chr8:48272400-48279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:48272400-48281800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:48273000-48274800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:48273000-48275000	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:48273400-48276200	Weak transcription	Fetal Lung	lung
49	chr8:48273600-48275200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:48273800-48274800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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