Variant report

Variant	rs2283851
Chromosome Location	chr22:29773100-29773101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29737136..29739598-chr22:29772687..29775574,2	MCF-7	breast:
2	chr22:29771898..29775582-chr22:29781742..29783845,4	MCF-7	breast:
3	chr22:29704102..29706466-chr22:29771552..29773376,2	MCF-7	breast:
4	chr22:29771983..29774340-chr22:29774881..29776429,2	K562	blood:
5	chr22:29771666..29773871-chr22:29789734..29792185,2	MCF-7	breast:
6	chr22:29771733..29774744-chr22:29774993..29776760,3	MCF-7	breast:
7	chr22:29762328..29763973-chr22:29771513..29774228,2	MCF-7	breast:
8	chr22:29771731..29774347-chr22:29784237..29785863,2	MCF-7	breast:
9	chr22:29664123..29665985-chr22:29772545..29774915,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000100280	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2267134	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3747146	0.81[ASN][1000 genomes]
rs418267	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58595531	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6006120	0.85[ASN][1000 genomes]
rs715589	0.82[ASN][1000 genomes]
rs9613855	0.85[EUR][1000 genomes]
rs9613877	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613889	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29755200-29773800	Weak transcription	Stomach Mucosa	stomach
5	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
6	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
8	chr22:29755600-29778600	Weak transcription	Fetal Lung	lung
9	chr22:29755800-29776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:29756000-29776200	Weak transcription	Small Intestine	intestine
11	chr22:29756000-29779800	Weak transcription	Brain Germinal Matrix	brain
12	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
13	chr22:29756000-29783800	Weak transcription	Ovary	ovary
14	chr22:29756200-29779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:29758200-29777000	Weak transcription	Colonic Mucosa	Colon
17	chr22:29762800-29777200	Weak transcription	Fetal Brain Female	brain
18	chr22:29765400-29776000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:29765400-29782600	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:29765400-29783600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:29765600-29775800	Weak transcription	HUVEC	blood vessel
22	chr22:29765600-29783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:29765600-29783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:29765800-29778600	Weak transcription	A549	lung
25	chr22:29765800-29782800	Weak transcription	NHDF-Ad	bronchial
26	chr22:29766200-29783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:29767000-29775400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:29767000-29776800	Weak transcription	K562	blood
29	chr22:29767200-29773400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr22:29767200-29775400	Weak transcription	Left Ventricle	heart
31	chr22:29767200-29776400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:29767200-29783600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:29767400-29778000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29767400-29779800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:29767400-29779800	Weak transcription	Brain Angular Gyrus	brain
36	chr22:29767400-29783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:29767400-29783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:29768000-29783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:29768000-29783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:29769000-29774200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr22:29769200-29783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:29769800-29774000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr22:29770400-29774400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29770400-29775600	Strong transcription	Fetal Intestine Small	intestine
45	chr22:29770400-29775800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:29770400-29782600	Strong transcription	Primary T cells from cord blood	blood
47	chr22:29770600-29774400	Strong transcription	Thymus	Thymus
48	chr22:29770600-29774600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:29770600-29774600	Strong transcription	Fetal Intestine Large	intestine
50	chr22:29770600-29774600	Strong transcription	Fetal Muscle Leg	muscle

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