Variant report

Variant	rs16990857
Chromosome Location	chr22:33015565-33015566
allele	A/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	chr22:33014781..33017660-chr22:33019637..33021375,2	MCF-7	breast:
3	chr22:32958043..32960588-chr22:33013928..33016358,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16990831	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs16990849	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16990872	0.93[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2051569	0.86[JPT][hapmap]
rs2157168	0.86[JPT][hapmap]
rs2858223	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs3827336	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754173	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58228617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58410126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67485432	0.83[ASN][1000 genomes]
rs73154363	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73154365	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73154374	0.84[ASN][1000 genomes]
rs8135117	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs9609603	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs9609608	0.93[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs9619283	0.93[JPT][hapmap]
rs9621513	0.81[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs9621515	0.93[JPT][hapmap]
rs988670	0.82[CHB][hapmap];0.93[JPT][hapmap]

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:46 , 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	chr22:33012000-33016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:33012400-33017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:33012400-33017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:33012600-33015800	Enhancers	Fetal Lung	lung
8	chr22:33012600-33017000	Weak transcription	Lung	lung
9	chr22:33012600-33017400	Weak transcription	Fetal Heart	heart
10	chr22:33012800-33017600	Enhancers	HepG2	liver
11	chr22:33013000-33016000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr22:33013400-33016000	Enhancers	Liver	Liver
13	chr22:33013600-33015800	Enhancers	Adipose Nuclei	Adipose
14	chr22:33013600-33015800	Enhancers	Colon Smooth Muscle	Colon
15	chr22:33013600-33016000	Enhancers	Right Atrium	heart
16	chr22:33013600-33016000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr22:33013800-33015800	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:33013800-33015800	Enhancers	Spleen	Spleen
19	chr22:33014200-33015800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:33014200-33017800	Weak transcription	Brain Anterior Caudate	brain
21	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
22	chr22:33014400-33015600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:33014400-33015800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:33014400-33015800	Enhancers	Stomach Smooth Muscle	stomach
25	chr22:33014400-33017000	Weak transcription	Psoas Muscle	Psoas
26	chr22:33014400-33017400	Weak transcription	Colonic Mucosa	Colon
27	chr22:33014400-33017400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:33014400-33019800	Weak transcription	Brain Angular Gyrus	brain
29	chr22:33014600-33015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:33014600-33017000	Weak transcription	Fetal Kidney	kidney
31	chr22:33014600-33017600	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:33014600-33017600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:33014800-33017000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:33014800-33017400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:33014800-33017600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:33015000-33017200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:33015000-33017400	Weak transcription	Right Ventricle	heart
38	chr22:33015000-33017400	Weak transcription	Stomach Mucosa	stomach
39	chr22:33015000-33019800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:33015200-33015600	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:33015200-33015600	Weak transcription	Ovary	ovary
42	chr22:33015200-33015600	Enhancers	Hela-S3	cervix
43	chr22:33015200-33015800	Weak transcription	Left Ventricle	heart
44	chr22:33015200-33017000	Weak transcription	Placenta	Placenta
45	chr22:33015200-33017600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:33015400-33016000	Enhancers	K562	blood

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