Variant report

Variant	rs28360615
Chromosome Location	chr22:29338656-29338657
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	chr22:29278303..29280288-chr22:29337849..29340109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13056243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13058453	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16986825	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16986838	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16986861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34578331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs739196	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs916332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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:61 , 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	chr22:29329400-29339000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:29329800-29338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29331400-29338800	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:29331400-29339200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29331400-29339400	Weak transcription	Right Atrium	heart
8	chr22:29331400-29341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29331600-29339000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:29331600-29339200	Weak transcription	Pancreas	Pancrea
11	chr22:29331600-29339200	Weak transcription	Psoas Muscle	Psoas
12	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:29332600-29339600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:29333800-29339200	Weak transcription	Lung	lung
16	chr22:29333800-29347800	Weak transcription	Gastric	stomach
17	chr22:29334400-29340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:29334600-29342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:29334800-29340000	Enhancers	HepG2	liver
20	chr22:29335000-29338800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29335000-29339400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29335400-29339400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:29335400-29340000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr22:29335400-29340000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:29336000-29339800	Enhancers	Fetal Intestine Large	intestine
27	chr22:29336000-29339800	Enhancers	Fetal Intestine Small	intestine
28	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:29336400-29339000	Weak transcription	Ovary	ovary
30	chr22:29336400-29339000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:29336600-29338800	Weak transcription	Fetal Lung	lung
32	chr22:29336600-29339000	Weak transcription	Fetal Brain Male	brain
33	chr22:29336800-29339400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:29337000-29342000	Weak transcription	A549	lung
35	chr22:29337200-29338800	Weak transcription	Brain Germinal Matrix	brain
36	chr22:29337200-29339000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:29337800-29339800	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:29337800-29340000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr22:29337800-29340400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:29338000-29339600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:29338000-29339800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr22:29338000-29339800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr22:29338200-29338800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29338200-29338800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:29338200-29339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr22:29338200-29339400	Enhancers	Fetal Heart	heart
47	chr22:29338200-29339800	Enhancers	Brain Hippocampus Middle	brain
48	chr22:29338200-29339800	Enhancers	Placenta	Placenta
49	chr22:29338200-29340000	Enhancers	Fetal Kidney	kidney
50	chr22:29338200-29340200	Enhancers	Liver	Liver

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