Variant report

Variant	rs2294240
Chromosome Location	chr22:29449481-29449482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29429778..29432047-chr22:29449305..29452097,2	K562	blood:
2	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
3	chr22:29447600..29449724-chr22:29451145..29453268,3	K562	blood:
4	chr22:29448397..29450406-chr22:29453506..29455182,2	K562	blood:
5	chr22:29447905..29449724-chr22:29451027..29452645,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11912498	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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:83 , 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	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29438400-29449800	Strong transcription	Fetal Stomach	stomach
5	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
6	chr22:29439000-29449800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:29439000-29450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
9	chr22:29441000-29451200	Weak transcription	HSMM	muscle
10	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
11	chr22:29441200-29449600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:29441200-29458000	Weak transcription	HMEC	breast
13	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:29444600-29450200	Weak transcription	Brain Substantia Nigra	brain
15	chr22:29444600-29450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:29444600-29451400	Weak transcription	Fetal Brain Male	brain
17	chr22:29445200-29449600	Weak transcription	Fetal Kidney	kidney
18	chr22:29445400-29454400	Weak transcription	Fetal Lung	lung
19	chr22:29445800-29449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:29445800-29451200	Weak transcription	A549	lung
21	chr22:29446000-29450600	Weak transcription	Dnd41	blood
22	chr22:29446000-29454800	Weak transcription	K562	blood
23	chr22:29446200-29450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:29446400-29451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29447000-29449800	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:29447000-29450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:29447000-29450200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:29447000-29450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:29447200-29450200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:29447200-29450400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29447200-29450600	Weak transcription	Esophagus	oesophagus
32	chr22:29447200-29450600	Weak transcription	Right Ventricle	heart
33	chr22:29447200-29450800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr22:29447200-29451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29447200-29455000	Weak transcription	Gastric	stomach
36	chr22:29447200-29455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:29447200-29456600	Weak transcription	Placenta	Placenta
38	chr22:29447200-29457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:29447200-29458200	Weak transcription	Osteobl	bone
40	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:29447400-29449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:29447400-29449800	Weak transcription	NHLF	lung
43	chr22:29447400-29450000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:29447400-29450000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr22:29447400-29450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:29447400-29450400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:29447400-29450400	Weak transcription	HSMMtube	muscle
48	chr22:29447400-29450600	Weak transcription	Ovary	ovary
49	chr22:29447400-29450600	Weak transcription	Pancreas	Pancrea
50	chr22:29447400-29450600	Weak transcription	Spleen	Spleen

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