Variant report

Variant	rs11703385
Chromosome Location	chr22:30678116-30678117
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30671223..30673243-chr22:30676654..30678406,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010324	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11089442	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12169094	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12171261	0.80[EUR][1000 genomes]
rs2074731	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283866	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2839998	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57940170	0.81[EUR][1000 genomes]
rs5994294	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61583714	0.80[EUR][1000 genomes]
rs71331235	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7288366	0.81[EUR][1000 genomes]
rs7289360	0.80[EUR][1000 genomes]
rs7289384	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8141656	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9619096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9619098	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9619105	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers 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 lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30672600-30678400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:30672600-30684400	Weak transcription	Fetal Brain Female	brain
3	chr22:30672800-30678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30673200-30678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:30674000-30678800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:30674000-30680400	Weak transcription	A549	lung
7	chr22:30674200-30679200	Weak transcription	K562	blood
8	chr22:30674200-30679400	Weak transcription	Ovary	ovary
9	chr22:30674400-30678400	Weak transcription	Fetal Thymus	thymus
10	chr22:30674400-30680200	Weak transcription	Right Ventricle	heart
11	chr22:30674400-30680800	Weak transcription	Fetal Lung	lung
12	chr22:30674400-30681200	Weak transcription	Aorta	Aorta
13	chr22:30674400-30681200	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:30674400-30681200	Weak transcription	Left Ventricle	heart
15	chr22:30674400-30684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:30674400-30684000	Weak transcription	NHEK	skin
17	chr22:30674400-30684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:30674400-30684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:30674400-30684200	Weak transcription	Brain Germinal Matrix	brain
20	chr22:30674400-30684200	Weak transcription	Right Atrium	heart
21	chr22:30674600-30678200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr22:30674600-30679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30674600-30679000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:30674600-30679200	Weak transcription	NH-A	brain
25	chr22:30674600-30680200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:30674600-30680200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:30674600-30680400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:30674600-30680800	Weak transcription	Fetal Muscle Leg	muscle
29	chr22:30674600-30680800	Weak transcription	Gastric	stomach
30	chr22:30674600-30682600	Weak transcription	Pancreas	Pancrea
31	chr22:30674600-30683000	Weak transcription	Colonic Mucosa	Colon
32	chr22:30674600-30683000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:30674600-30683800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr22:30674600-30684000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:30674600-30684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30674600-30684600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:30674800-30680200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:30675200-30678400	Weak transcription	Thymus	Thymus
39	chr22:30675400-30681200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:30675400-30681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:30675400-30683200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:30675400-30683200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30675400-30684000	Weak transcription	Brain Anterior Caudate	brain
44	chr22:30675600-30678200	Weak transcription	Fetal Intestine Small	intestine
45	chr22:30675600-30679200	Weak transcription	Fetal Intestine Large	intestine
46	chr22:30675800-30679000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:30675800-30680200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30675800-30681200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr22:30676000-30678200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:30676000-30678200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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