Variant report

Variant	rs8138950
Chromosome Location	chr22:29448643-29448644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29447600..29449724-chr22:29451145..29453268,3	K562	blood:
2	chr22:29448397..29450406-chr22:29453506..29455182,2	K562	blood:
3	chr22:29447905..29449724-chr22:29451027..29452645,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3178915	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4823007	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4823008	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997433	0.84[ASN][1000 genomes]
rs6005975	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6519770	0.88[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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
2	chr22:29437200-29450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:29437800-29448800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29438400-29449800	Strong transcription	Fetal Stomach	stomach
6	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
7	chr22:29439000-29449800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:29439000-29450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
10	chr22:29440200-29448800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:29441000-29449200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:29441000-29451200	Weak transcription	HSMM	muscle
13	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
14	chr22:29441200-29449600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:29441200-29458000	Weak transcription	HMEC	breast
16	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:29444000-29449400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:29444600-29450200	Weak transcription	Brain Substantia Nigra	brain
19	chr22:29444600-29450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:29444600-29451400	Weak transcription	Fetal Brain Male	brain
21	chr22:29445200-29449600	Weak transcription	Fetal Kidney	kidney
22	chr22:29445400-29454400	Weak transcription	Fetal Lung	lung
23	chr22:29445800-29449200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:29445800-29449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:29445800-29451200	Weak transcription	A549	lung
26	chr22:29446000-29450600	Weak transcription	Dnd41	blood
27	chr22:29446000-29454800	Weak transcription	K562	blood
28	chr22:29446200-29450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:29446400-29451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29447000-29449800	Strong transcription	Fetal Muscle Leg	muscle
31	chr22:29447000-29450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:29447000-29450200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:29447000-29450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:29447200-29449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:29447200-29449000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:29447200-29449400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:29447200-29450200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:29447200-29450400	Weak transcription	Brain Angular Gyrus	brain
39	chr22:29447200-29450600	Weak transcription	Esophagus	oesophagus
40	chr22:29447200-29450600	Weak transcription	Right Ventricle	heart
41	chr22:29447200-29450800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr22:29447200-29451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29447200-29455000	Weak transcription	Gastric	stomach
44	chr22:29447200-29455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:29447200-29456600	Weak transcription	Placenta	Placenta
46	chr22:29447200-29457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:29447200-29458200	Weak transcription	Osteobl	bone
48	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:29447400-29448800	Weak transcription	Liver	Liver
50	chr22:29447400-29449000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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