Variant report

Variant	rs1320685
Chromosome Location	chr11:119932930-119932931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10502234	0.92[ASN][1000 genomes]
rs10892518	0.92[ASN][1000 genomes]
rs10892523	0.87[ASN][1000 genomes]
rs10892525	0.89[AFR][1000 genomes]
rs10892526	0.82[ASN][1000 genomes]
rs10892527	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11217639	0.80[ASN][1000 genomes]
rs11217650	0.92[ASN][1000 genomes]
rs11217651	0.92[ASN][1000 genomes]
rs11217653	0.92[ASN][1000 genomes]
rs11217654	0.88[ASN][1000 genomes]
rs11217662	0.87[ASN][1000 genomes]
rs11493812	0.92[ASN][1000 genomes]
rs11512472	0.92[ASN][1000 genomes]
rs11605106	0.92[ASN][1000 genomes]
rs11605307	0.89[AFR][1000 genomes]
rs11607618	0.92[ASN][1000 genomes]
rs11607997	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12362929	0.92[ASN][1000 genomes]
rs12363335	0.80[ASN][1000 genomes]
rs12363889	0.92[ASN][1000 genomes]
rs12365908	0.92[ASN][1000 genomes]
rs12790374	0.92[ASN][1000 genomes]
rs12792065	0.92[ASN][1000 genomes]
rs12799875	0.92[ASN][1000 genomes]
rs12800482	0.92[ASN][1000 genomes]
rs12800844	0.83[ASN][1000 genomes]
rs1319166	0.96[ASN][1000 genomes]
rs1452840	0.92[ASN][1000 genomes]
rs1452841	0.92[ASN][1000 genomes]
rs1939331	0.92[ASN][1000 genomes]
rs1939332	0.87[ASN][1000 genomes]
rs1939334	0.92[ASN][1000 genomes]
rs1960536	0.92[ASN][1000 genomes]
rs4936507	0.95[ASN][1000 genomes]
rs56895810	0.91[ASN][1000 genomes]
rs61897924	0.87[ASN][1000 genomes]
rs61897925	0.92[ASN][1000 genomes]
rs965312	0.96[ASN][1000 genomes]
rs972534	0.92[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3410454	chr11:119932099-119933049	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119922600-119936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119925000-119934200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119929400-119934000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:119931400-119933200	Enhancers	HSMMtube	muscle
5	chr11:119931400-119934000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:119931600-119933200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:119931600-119933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:119931600-119933400	Enhancers	NH-A	brain
9	chr11:119931600-119933600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:119931600-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:119931800-119933400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:119931800-119935200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:119932000-119933600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:119932000-119935000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:119932200-119933600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr11:119932200-119933600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:119932200-119933600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:119932200-119933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:119932200-119933600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr11:119932200-119934200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:119932400-119933000	Enhancers	Fetal Brain Female	brain
22	chr11:119932400-119933600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:119932400-119933600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:119932400-119933800	Enhancers	Fetal Kidney	kidney
25	chr11:119932400-119933800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:119932400-119935400	Enhancers	Fetal Brain Male	brain
27	chr11:119932600-119933000	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr11:119932600-119933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:119932600-119933600	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr11:119932600-119933800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:119932600-119933800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:119932600-119934800	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:119932600-119935200	Enhancers	Brain Angular Gyrus	brain
34	chr11:119932800-119933000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:119932800-119933200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:119932800-119933200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr11:119932800-119933400	Enhancers	Brain Anterior Caudate	brain
38	chr11:119932800-119933400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:119932800-119933600	Enhancers	Brain Substantia Nigra	brain
40	chr11:119932800-119933600	Enhancers	Esophagus	oesophagus
41	chr11:119932800-119933600	Bivalent Enhancer	Placenta	Placenta
42	chr11:119932800-119933600	Enhancers	HMEC	breast
43	chr11:119932800-119933600	Enhancers	NHEK	skin
44	chr11:119932800-119933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:119932800-119933800	Enhancers	Brain Hippocampus Middle	brain
46	chr11:119932800-119934200	Enhancers	Fetal Heart	heart

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