Variant report

Variant	rs8135117
Chromosome Location	chr22:33014557-33014558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33013961..33016702-chr22:33017273..33018854,2	MCF-7	breast:
2	chr22:33012442..33015422-chr22:33150856..33153115,2	MCF-7	breast:
3	chr22:32958043..32960588-chr22:33013928..33016358,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16990857	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs16990872	0.86[JPT][hapmap]
rs2051569	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2157168	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2710348	0.83[ASN][1000 genomes]
rs2858223	0.86[JPT][hapmap]
rs3827336	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs67485432	0.80[ASN][1000 genomes]
rs8136042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9609608	0.86[JPT][hapmap]
rs9619283	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9621508	0.81[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs9621513	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621515	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621516	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs988670	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33010400-33017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:33011400-33015800	Enhancers	Fetal Stomach	stomach
3	chr22:33011600-33015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:33011600-33015200	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:33011600-33015200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:33011800-33015200	Weak transcription	Hela-S3	cervix
7	chr22:33012000-33016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:33012400-33017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:33012400-33017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:33012600-33015800	Enhancers	Fetal Lung	lung
12	chr22:33012600-33017000	Weak transcription	Lung	lung
13	chr22:33012600-33017400	Weak transcription	Fetal Heart	heart
14	chr22:33012800-33017600	Enhancers	HepG2	liver
15	chr22:33013000-33015200	Enhancers	Placenta	Placenta
16	chr22:33013000-33015200	Enhancers	Ovary	ovary
17	chr22:33013000-33016000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr22:33013200-33014600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:33013400-33014800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr22:33013400-33015000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr22:33013400-33016000	Enhancers	Liver	Liver
22	chr22:33013600-33014600	Enhancers	Fetal Kidney	kidney
23	chr22:33013600-33015200	Enhancers	Fetal Brain Male	brain
24	chr22:33013600-33015800	Enhancers	Adipose Nuclei	Adipose
25	chr22:33013600-33015800	Enhancers	Colon Smooth Muscle	Colon
26	chr22:33013600-33016000	Enhancers	Right Atrium	heart
27	chr22:33013600-33016000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:33013800-33014600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:33013800-33014600	Enhancers	Duodenum Mucosa	Duodenum
30	chr22:33013800-33015000	Enhancers	Right Ventricle	heart
31	chr22:33013800-33015200	Enhancers	Esophagus	oesophagus
32	chr22:33013800-33015200	Enhancers	Left Ventricle	heart
33	chr22:33013800-33015800	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:33013800-33015800	Enhancers	Spleen	Spleen
35	chr22:33014000-33014600	Enhancers	Brain Hippocampus Middle	brain
36	chr22:33014000-33014800	Weak transcription	Stomach Mucosa	stomach
37	chr22:33014000-33015000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr22:33014200-33014600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33014200-33014600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr22:33014200-33015800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:33014200-33017800	Weak transcription	Brain Anterior Caudate	brain
42	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
43	chr22:33014400-33015200	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:33014400-33015600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:33014400-33015800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:33014400-33015800	Enhancers	Stomach Smooth Muscle	stomach
47	chr22:33014400-33017000	Weak transcription	Psoas Muscle	Psoas
48	chr22:33014400-33017400	Weak transcription	Colonic Mucosa	Colon
49	chr22:33014400-33017400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr22:33014400-33019800	Weak transcription	Brain Angular Gyrus	brain

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