Variant report

Variant	rs12575945
Chromosome Location	chr11:120425797-120425798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11600946	0.86[EUR][1000 genomes]
rs11601826	0.86[ASN][1000 genomes]
rs11602075	0.86[ASN][1000 genomes]
rs12575259	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575317	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2248404	0.88[EUR][1000 genomes]
rs2508656	0.88[EUR][1000 genomes]
rs4297478	0.86[ASN][1000 genomes]
rs4561221	0.87[ASN][1000 genomes]
rs7940779	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120416800-120426200	Enhancers	Placenta	Placenta
2	chr11:120419200-120426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:120419800-120429600	Weak transcription	Right Ventricle	heart
4	chr11:120419800-120433600	Weak transcription	Right Atrium	heart
5	chr11:120420400-120425800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:120420600-120425800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:120421000-120425800	Weak transcription	NHLF	lung
8	chr11:120421600-120425800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:120423800-120426800	Enhancers	Ovary	ovary
10	chr11:120424000-120428200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:120424200-120425800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:120424600-120425800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:120424600-120426200	Weak transcription	Spleen	Spleen
14	chr11:120424600-120433600	Weak transcription	Left Ventricle	heart
15	chr11:120424800-120425800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:120424800-120426000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:120424800-120426000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:120425200-120426400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:120425200-120427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:120425200-120428200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:120425400-120427000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:120425400-120428200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:120425600-120425800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:120425600-120425800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:120425600-120426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:120425600-120426200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:120425600-120426200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120425600-120426200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:120425600-120426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:120425600-120426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:120425600-120426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:120425600-120426600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:120425600-120426600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:120425600-120426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:120425600-120426600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:120425600-120426600	Enhancers	Brain Substantia Nigra	brain
37	chr11:120425600-120426600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr11:120425600-120426600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr11:120425600-120426800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:120425600-120426800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:120425600-120426800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:120425600-120427000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr11:120425600-120427000	Enhancers	Fetal Brain Male	brain
44	chr11:120425600-120427000	Enhancers	Fetal Kidney	kidney
45	chr11:120425600-120427000	Enhancers	Fetal Lung	lung
46	chr11:120425600-120427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:120425600-120427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:120425600-120427400	Enhancers	GM12878-XiMat	blood
49	chr11:120425600-120428200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:120425600-120428200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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