Variant report

Variant	rs12158490
Chromosome Location	chr22:29333378-29333379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29278506..29281137-chr22:29331864..29333456,2	MCF-7	breast:
2	chr22:29332231..29334141-chr22:29336540..29338393,2	K562	blood:
3	chr22:29326669..29328681-chr22:29332025..29335341,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8141093	1.00[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29321000-29339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr22:29322000-29336600	Weak transcription	NHEK	skin
4	chr22:29322200-29333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29324000-29335400	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29325800-29334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:29326600-29336000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:29328200-29335000	Weak transcription	Small Intestine	intestine
9	chr22:29328200-29338000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:29328800-29333400	Weak transcription	Gastric	stomach
11	chr22:29328800-29334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29329400-29334400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29329400-29339000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:29329800-29338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:29330200-29335200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:29330200-29335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:29330200-29335400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:29330200-29335400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:29330200-29335400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:29330400-29335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29330400-29335600	Weak transcription	Fetal Lung	lung
22	chr22:29330400-29336400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:29330400-29336600	Weak transcription	A549	lung
24	chr22:29331000-29333400	Weak transcription	Fetal Kidney	kidney
25	chr22:29331000-29333800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:29331000-29334800	Genic enhancers	HepG2	liver
27	chr22:29331200-29335600	Weak transcription	Liver	Liver
28	chr22:29331400-29333400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:29331400-29334800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:29331400-29335000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:29331400-29338800	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:29331400-29339200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:29331400-29339400	Weak transcription	Right Atrium	heart
34	chr22:29331400-29341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29331600-29333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:29331600-29336000	Weak transcription	Fetal Intestine Small	intestine
37	chr22:29331600-29339000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:29331600-29339200	Weak transcription	Pancreas	Pancrea
39	chr22:29331600-29339200	Weak transcription	Psoas Muscle	Psoas
40	chr22:29331800-29334400	Weak transcription	Fetal Intestine Large	intestine
41	chr22:29331800-29335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
43	chr22:29332400-29333400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29332600-29333400	Weak transcription	Aorta	Aorta
45	chr22:29332600-29333400	Weak transcription	Placenta	Placenta
46	chr22:29332600-29334600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:29332600-29334800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:29332600-29335000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:29332600-29335400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:29332600-29336000	Weak transcription	Ovary	ovary

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