Variant report

Variant	rs926467
Chromosome Location	chr22:28279594-28279595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:
2	chr22:28277423..28279775-chr22:28284286..28285949,2	MCF-7	breast:
3	chr22:28278788..28281432-chr22:28313283..28315949,2	MCF-7	breast:
4	chr22:28279056..28281403-chr22:28286781..28288906,2	K562	blood:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1000112	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12169782	0.89[ASN][1000 genomes]
rs12170161	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs13058351	0.89[ASN][1000 genomes]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16985691	0.89[MEX][hapmap]
rs17389267	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480369	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8142920	0.89[MEX][hapmap]
rs9620755	0.83[ASN][1000 genomes]
rs9620758	0.89[ASN][1000 genomes]
rs9625355	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9625368	0.89[ASN][1000 genomes]
rs9985181	0.89[ASN][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	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	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
4	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
5	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
6	chr22:28259600-28279600	Weak transcription	Gastric	stomach
7	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
12	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
14	chr22:28270000-28279600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:28270000-28279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr22:28270400-28279600	Weak transcription	Lung	lung
18	chr22:28270400-28281200	Weak transcription	K562	blood
19	chr22:28272200-28279600	Weak transcription	Primary B cells from cord blood	blood
20	chr22:28273200-28279600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:28273400-28279800	Enhancers	Liver	Liver
24	chr22:28273800-28279800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:28273800-28279800	Weak transcription	Thymus	Thymus
26	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr22:28274000-28279600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr22:28274000-28279800	Weak transcription	Right Ventricle	heart
29	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:28274200-28279800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:28274800-28279600	Enhancers	NHLF	lung
32	chr22:28275400-28279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:28275400-28279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:28276000-28279600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:28276000-28279800	Enhancers	Brain Substantia Nigra	brain
36	chr22:28276000-28279800	Enhancers	Fetal Heart	heart
37	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
38	chr22:28276600-28279800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:28277000-28279800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:28277000-28280000	Enhancers	Fetal Lung	lung
41	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
42	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:28277400-28279600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:28277400-28279800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:28277400-28279800	Weak transcription	A549	lung
46	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:28277600-28279600	Weak transcription	Aorta	Aorta
48	chr22:28277600-28279600	Weak transcription	Right Atrium	heart
49	chr22:28277600-28279800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:28277600-28279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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