Variant report

Variant	rs4822999
Chromosome Location	chr22:29375071-29375072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29374143..29375921-chr22:29380151..29381868,2	MCF-7	breast:
2	chr22:29374740..29376458-chr22:29379657..29381475,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10483153	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12628368	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16986814	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16986873	0.96[ASN][1000 genomes]
rs16986951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16986993	0.88[ASN][1000 genomes]
rs1986295	0.88[ASN][1000 genomes]
rs41341948	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820793	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823004	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7286026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8137589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9625657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs974369	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29371800-29375600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:29371800-29375800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:29371800-29375800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:29371800-29376000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29372000-29375200	Enhancers	Brain Substantia Nigra	brain
10	chr22:29372200-29375600	Enhancers	Left Ventricle	heart
11	chr22:29372200-29375800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:29372600-29375800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:29372600-29376200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr22:29372600-29376200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr22:29373000-29375800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:29373000-29376600	Enhancers	K562	blood
18	chr22:29373200-29376200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29373400-29375600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
21	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
22	chr22:29373600-29375600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:29373600-29375800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:29373800-29375800	Enhancers	Brain Anterior Caudate	brain
26	chr22:29373800-29379000	Weak transcription	Placenta	Placenta
27	chr22:29374000-29375400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:29374000-29375800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:29374000-29375800	Enhancers	Fetal Muscle Leg	muscle
30	chr22:29374000-29376000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr22:29374000-29378600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:29374200-29375200	Enhancers	HMEC	breast
33	chr22:29374200-29375400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr22:29374200-29375800	Enhancers	Brain Hippocampus Middle	brain
35	chr22:29374200-29376400	Enhancers	Adipose Nuclei	Adipose
36	chr22:29374200-29379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:29374200-29383000	Weak transcription	Ovary	ovary
39	chr22:29374400-29375200	Weak transcription	Fetal Kidney	kidney
40	chr22:29374400-29375200	Enhancers	HepG2	liver
41	chr22:29374400-29375400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:29374400-29375400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:29374400-29375800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:29374400-29375800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr22:29374400-29375800	Enhancers	Fetal Muscle Trunk	muscle
46	chr22:29374400-29376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:29374400-29378000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:29374400-29378600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr22:29374400-29379200	Weak transcription	Fetal Lung	lung
50	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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