Variant report

Variant	rs12321
Chromosome Location	chr22:29453193-29453194
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	chr22:29452982..29455388-chr22:29548922..29550730,2	K562	blood:
2	chr22:29447600..29449724-chr22:29451145..29453268,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2179129	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294239	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823006	0.96[CEU][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
2	chr22:29441200-29458000	Weak transcription	HMEC	breast
3	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29445400-29454400	Weak transcription	Fetal Lung	lung
5	chr22:29446000-29454800	Weak transcription	K562	blood
6	chr22:29447200-29455000	Weak transcription	Gastric	stomach
7	chr22:29447200-29455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:29447200-29456600	Weak transcription	Placenta	Placenta
9	chr22:29447200-29457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:29447200-29458200	Weak transcription	Osteobl	bone
11	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:29447400-29453200	Weak transcription	Fetal Brain Female	brain
13	chr22:29447400-29454400	Weak transcription	Aorta	Aorta
14	chr22:29447400-29454800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29447400-29454800	Weak transcription	Lung	lung
16	chr22:29447400-29455600	Weak transcription	Adipose Nuclei	Adipose
17	chr22:29447400-29455600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:29447400-29458200	Weak transcription	NHEK	skin
19	chr22:29447400-29458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29448000-29456400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:29449200-29458400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29449800-29454400	Weak transcription	Fetal Stomach	stomach
23	chr22:29449800-29458200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:29450000-29455800	Enhancers	Fetal Muscle Leg	muscle
25	chr22:29450800-29454400	Weak transcription	HepG2	liver
26	chr22:29450800-29456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:29450800-29458600	Weak transcription	Pancreas	Pancrea
28	chr22:29451600-29458200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:29451800-29454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:29451800-29454800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29451800-29456400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:29451800-29458200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29451800-29458200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
35	chr22:29451800-29467000	Weak transcription	Ovary	ovary
36	chr22:29452600-29458400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:29452800-29454800	Weak transcription	Psoas Muscle	Psoas
38	chr22:29452800-29454800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:29452800-29456600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:29452800-29458200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:29452800-29458200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:29452800-29458400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:29452800-29458400	Weak transcription	HSMMtube	muscle
44	chr22:29453000-29454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:29453000-29461000	Weak transcription	Dnd41	blood

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