Variant report

Variant	rs2157168
Chromosome Location	chr22:33025241-33025242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	chr22:33024320..33026626-chr22:33029132..33033030,5	MCF-7	breast:
3	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
4	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
5	22:32920308-32927723..22:33024278-33030812	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000251890	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16990857	0.86[JPT][hapmap]
rs2051569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2710348	0.93[ASN][1000 genomes]
rs2858223	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2858225	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8135117	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs8136042	0.87[ASN][1000 genomes]
rs9609603	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs9619283	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs9621513	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs9621515	0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs9621516	0.85[ASN][1000 genomes]
rs988670	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
2	chr22:33017000-33025800	Enhancers	Spleen	Spleen
3	chr22:33017000-33027200	Enhancers	Placenta	Placenta
4	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
5	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:33021400-33025800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:33022000-33025800	Enhancers	Fetal Muscle Leg	muscle
8	chr22:33022200-33025800	Enhancers	Fetal Muscle Trunk	muscle
9	chr22:33022200-33027000	Enhancers	Fetal Stomach	stomach
10	chr22:33022600-33025600	Enhancers	Fetal Thymus	thymus
11	chr22:33023200-33025400	Enhancers	Fetal Kidney	kidney
12	chr22:33023400-33025600	Enhancers	Right Atrium	heart
13	chr22:33023400-33025800	Enhancers	NHLF	lung
14	chr22:33023600-33025600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr22:33023600-33025800	Enhancers	Fetal Lung	lung
16	chr22:33023600-33028800	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:33023800-33026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:33023800-33026600	Weak transcription	Thymus	Thymus
19	chr22:33023800-33026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr22:33024200-33025600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:33024200-33025600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:33024200-33025800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:33024200-33025800	Enhancers	Liver	Liver
24	chr22:33024400-33025400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:33024400-33025400	Enhancers	K562	blood
26	chr22:33024400-33025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33024400-33025600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:33024800-33025400	Enhancers	Stomach Smooth Muscle	stomach
29	chr22:33024800-33025400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr22:33024800-33025600	Enhancers	Fetal Brain Male	brain
31	chr22:33024800-33025600	Enhancers	Lung	lung
32	chr22:33024800-33025600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr22:33024800-33025600	Flanking Active TSS	HepG2	liver
34	chr22:33024800-33025600	Enhancers	NHDF-Ad	bronchial
35	chr22:33024800-33025800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33024800-33025800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:33025000-33025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr22:33025000-33027200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:33025000-33028400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:33025000-33028800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:33025200-33025600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:33025200-33025600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:33025200-33030200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:33025200-33030200	Weak transcription	Primary monocytes fromperipheralblood	blood

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