Variant report

Variant	rs11704577
Chromosome Location	chr22:31483455-31483456
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
2	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
3	chr22:31482773..31485037-chr22:31624990..31627898,2	K562	blood:
4	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:
5	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:
6	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
7	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
8	chr22:31336067..31338299-chr22:31480944..31483823,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000202019	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000184792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11702887	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703298	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704170	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704373	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704428	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704692	0.92[AMR][1000 genomes]
rs11704852	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704907	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704918	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11705035	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11705054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11705064	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17822214	0.85[AMR][1000 genomes]
rs35541583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73406153	0.92[AMR][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:31481000-31484800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:31481600-31483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:31481600-31484000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr22:31481600-31486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:31481600-31487400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr22:31481600-31488200	Weak transcription	Psoas Muscle	Psoas
11	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
12	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31481800-31483600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:31481800-31483600	Weak transcription	Fetal Kidney	kidney
15	chr22:31481800-31483600	Weak transcription	Dnd41	blood
16	chr22:31481800-31483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31481800-31483800	Weak transcription	Fetal Brain Female	brain
18	chr22:31481800-31484000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:31481800-31484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:31481800-31485400	Genic enhancers	Fetal Muscle Leg	muscle
21	chr22:31481800-31486200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:31481800-31486800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:31481800-31486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:31481800-31487200	Genic enhancers	Placenta	Placenta
25	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:31482000-31483600	Genic enhancers	HSMM	muscle
27	chr22:31482000-31483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:31482000-31484800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr22:31482000-31484800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:31482000-31485400	Weak transcription	Primary B cells from cord blood	blood
31	chr22:31482000-31486800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:31482000-31487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:31482000-31487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:31482000-31488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31482000-31489600	Weak transcription	Fetal Brain Male	brain
36	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
39	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
41	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:31482200-31483600	Genic enhancers	HMEC	breast
45	chr22:31482200-31483800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:31482200-31483800	Weak transcription	Colonic Mucosa	Colon
47	chr22:31482200-31483800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:31482200-31483800	Genic enhancers	Rectal Smooth Muscle	rectum
49	chr22:31482200-31484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:31482200-31484000	Weak transcription	Fetal Thymus	thymus

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