Variant report

Variant	rs16985933
Chromosome Location	chr22:28465176-28465177
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	chr22:28461994..28463854-chr22:28464020..28466662,2	MCF-7	breast:
2	chr22:28464126..28466768-chr22:28468143..28470001,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10483141	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483148	1.00[AMR][1000 genomes]
rs130411	0.89[EUR][1000 genomes]
rs135637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135638	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs135641	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135642	1.00[ASN][1000 genomes]
rs135643	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs135647	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs135649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135659	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985862	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985909	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16985925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986244	1.00[AMR][1000 genomes]
rs16986248	1.00[AMR][1000 genomes]
rs16986251	1.00[AMR][1000 genomes]
rs16986254	1.00[AMR][1000 genomes]
rs16986257	1.00[AMR][1000 genomes]
rs16986266	1.00[AMR][1000 genomes]
rs17391737	0.80[AMR][1000 genomes]
rs17481471	0.80[AMR][1000 genomes]
rs17482652	0.80[AMR][1000 genomes]
rs17483227	0.80[AMR][1000 genomes]
rs17483998	0.80[AMR][1000 genomes]
rs2038286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881204	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55868187	0.83[AMR][1000 genomes]
rs5752697	0.90[AMR][1000 genomes]
rs7286237	0.80[AMR][1000 genomes]
rs7290640	0.80[AMR][1000 genomes]
rs731050	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
3	chr22:28445400-28470800	Weak transcription	Lung	lung
4	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
6	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28450400-28468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:28450600-28468000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28450600-28468200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:28457000-28468000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28457600-28468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
16	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
17	chr22:28459600-28471400	Weak transcription	HepG2	liver
18	chr22:28459800-28466800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:28459800-28468200	Weak transcription	Gastric	stomach
20	chr22:28460000-28465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:28460000-28466800	Weak transcription	Fetal Stomach	stomach
22	chr22:28460000-28467800	Weak transcription	Fetal Lung	lung
23	chr22:28460000-28468000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
25	chr22:28460200-28465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:28460200-28465200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:28461600-28466800	Weak transcription	Fetal Brain Female	brain
28	chr22:28461600-28467800	Weak transcription	Fetal Kidney	kidney
29	chr22:28461600-28470800	Weak transcription	Right Ventricle	heart
30	chr22:28461600-28471200	Weak transcription	Ovary	ovary
31	chr22:28461800-28468400	Weak transcription	Fetal Intestine Small	intestine
32	chr22:28462000-28467800	Weak transcription	Fetal Intestine Large	intestine
33	chr22:28462000-28471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:28462600-28469400	Weak transcription	Fetal Heart	heart
35	chr22:28463000-28468000	Weak transcription	Adipose Nuclei	Adipose
36	chr22:28463000-28470400	Weak transcription	Left Ventricle	heart
37	chr22:28463000-28471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:28464200-28466200	Weak transcription	Dnd41	blood
39	chr22:28464200-28467000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:28464800-28465400	Enhancers	HSMMtube	muscle
41	chr22:28464800-28466000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:28465000-28465800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:28465000-28466000	Enhancers	Osteobl	bone
44	chr22:28465000-28466600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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