Variant report

Variant	rs1000112
Chromosome Location	chr22:28273339-28273340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28272869..28275526-chr22:28276490..28279131,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10483139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12170161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16985690	1.00[ASN][1000 genomes]
rs17389267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17480313	1.00[ASN][1000 genomes]
rs17480369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480565	1.00[ASN][1000 genomes]
rs17480971	1.00[ASN][1000 genomes]
rs17481471	1.00[ASN][1000 genomes]
rs34844050	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35386208	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35633908	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286237	1.00[ASN][1000 genomes]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7290640	1.00[ASN][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8141993	1.00[ASN][1000 genomes]
rs926467	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28243800-28274000	Strong transcription	Dnd41	blood
2	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
5	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
6	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
8	chr22:28259600-28279600	Weak transcription	Gastric	stomach
9	chr22:28263400-28275400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:28264400-28276200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:28264600-28273800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:28264800-28274000	Strong transcription	NHEK	skin
15	chr22:28264800-28275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:28265200-28274000	Weak transcription	Fetal Kidney	kidney
17	chr22:28265200-28275200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:28265600-28273400	Strong transcription	HMEC	breast
19	chr22:28266800-28275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:28267000-28274200	Strong transcription	HUVEC	blood vessel
22	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:28267600-28277200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:28268000-28276200	Weak transcription	HepG2	liver
25	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
27	chr22:28268600-28274400	Enhancers	Fetal Heart	heart
28	chr22:28268600-28275600	Enhancers	Brain Substantia Nigra	brain
29	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
30	chr22:28268800-28275000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:28269000-28274000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:28269000-28274800	Enhancers	Brain Anterior Caudate	brain
33	chr22:28269000-28275400	Enhancers	Brain Hippocampus Middle	brain
34	chr22:28269400-28274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:28269800-28274400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:28269800-28275000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
38	chr22:28270000-28273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:28270000-28274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:28270000-28274800	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:28270000-28275600	Enhancers	Colon Smooth Muscle	Colon
42	chr22:28270000-28279600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:28270000-28279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr22:28270400-28273600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:28270400-28273600	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:28270400-28273600	Enhancers	Stomach Smooth Muscle	stomach
48	chr22:28270400-28273800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:28270400-28274400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:28270400-28276800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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