Variant report

Variant	rs8142788
Chromosome Location	chr22:29400515-29400516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs13055470	1.00[ASW][hapmap]
rs132280	1.00[CHD][hapmap]

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
3	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29388800-29400800	Weak transcription	Gastric	stomach
7	chr22:29396000-29401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:29396200-29400800	Weak transcription	Adipose Nuclei	Adipose
9	chr22:29396200-29401000	Weak transcription	HSMM	muscle
10	chr22:29396800-29400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:29397000-29401000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:29397600-29400600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:29397800-29402200	Enhancers	Fetal Heart	heart
14	chr22:29398000-29401200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:29398000-29402000	Enhancers	Fetal Muscle Leg	muscle
16	chr22:29398600-29402600	Enhancers	Pancreas	Pancrea
17	chr22:29398800-29405000	Weak transcription	HSMMtube	muscle
18	chr22:29399400-29402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:29399400-29403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:29399600-29400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr22:29399600-29401200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:29399600-29401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:29399600-29401800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:29399600-29401800	Enhancers	Brain Cingulate Gyrus	brain
25	chr22:29399600-29403400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:29399800-29400600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr22:29399800-29400600	Enhancers	NHEK	skin
28	chr22:29399800-29400800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:29399800-29401400	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:29399800-29401400	Enhancers	HMEC	breast
31	chr22:29400000-29400600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29400000-29400600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:29400000-29400600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr22:29400000-29400600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr22:29400000-29400600	Enhancers	Brain Substantia Nigra	brain
36	chr22:29400000-29400600	Enhancers	Stomach Smooth Muscle	stomach
37	chr22:29400000-29400600	Enhancers	A549	lung
38	chr22:29400000-29400800	Enhancers	Duodenum Mucosa	Duodenum
39	chr22:29400000-29400800	Enhancers	Fetal Intestine Large	intestine
40	chr22:29400000-29400800	Genic enhancers	Fetal Intestine Small	intestine
41	chr22:29400000-29400800	Enhancers	Fetal Stomach	stomach
42	chr22:29400000-29400800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr22:29400000-29401000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr22:29400000-29401000	Enhancers	Stomach Mucosa	stomach
45	chr22:29400000-29401200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:29400000-29401400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:29400000-29401400	Weak transcription	Brain Angular Gyrus	brain
48	chr22:29400000-29401400	Enhancers	Small Intestine	intestine
49	chr22:29400000-29401600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:29400000-29401600	Enhancers	H9 Cell Line	embryonic stem cell

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