Variant report

Variant	rs11912165
Chromosome Location	chr22:28504756-28504757
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	chr22:28503418..28506723-chr22:28511705..28514483,3	K562	blood:
2	chr22:28504287..28506723-chr22:28511705..28514349,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1072967	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2064360	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2294969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28720063	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56695231	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5752658	1.00[JPT][hapmap]
rs5752679	1.00[CHB][hapmap]
rs5752687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5752690	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5752693	0.92[EUR][1000 genomes]
rs5762408	1.00[JPT][hapmap]
rs5762446	1.00[CHB][hapmap]
rs5762449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5762474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762478	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762495	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762504	0.84[ASN][1000 genomes]
rs5762506	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762508	1.00[CHB][hapmap]
rs5762540	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9613574	1.00[YRI][hapmap]

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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
2	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28486200-28504800	Weak transcription	Osteobl	bone
4	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
5	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
7	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
9	chr22:28495000-28507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28495000-28508400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:28495000-28508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:28495000-28508600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:28495200-28508600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:28496000-28505600	Weak transcription	Primary T cells from cord blood	blood
15	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:28497200-28508600	Weak transcription	Stomach Mucosa	stomach
17	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:28499800-28505400	Weak transcription	HUVEC	blood vessel
19	chr22:28499800-28508400	Weak transcription	HSMMtube	muscle
20	chr22:28500000-28507600	Weak transcription	HSMM	muscle
21	chr22:28500000-28507800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:28500000-28507800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:28500200-28508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:28500400-28507800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr22:28500400-28508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:28501000-28507800	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:28501400-28506400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:28501400-28508200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
30	chr22:28501600-28507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:28501600-28507800	Weak transcription	Pancreas	Pancrea
32	chr22:28501600-28508600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
34	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
35	chr22:28501800-28505200	Strong transcription	Dnd41	blood
36	chr22:28501800-28508600	Weak transcription	Fetal Thymus	thymus
37	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:28502400-28504800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:28502400-28505000	Weak transcription	NHDF-Ad	bronchial
40	chr22:28502400-28507800	Weak transcription	Right Atrium	heart
41	chr22:28502400-28508600	Weak transcription	Gastric	stomach
42	chr22:28502400-28508600	Weak transcription	Spleen	Spleen
43	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
44	chr22:28503200-28509000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr22:28503600-28507600	Weak transcription	Fetal Heart	heart
46	chr22:28503600-28507800	Weak transcription	Placenta	Placenta
47	chr22:28503800-28507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:28504000-28504800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:28504000-28504800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:28504000-28505600	Weak transcription	Liver	Liver

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