Variant report

Variant	rs12282945
Chromosome Location	chr11:36183189-36183190
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr11:36183167-36183217	K562	blood:	n/a	n/a

Variant related genes	Relation type
LDLRAD3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836514	0.90[ASN][1000 genomes]
rs11033473	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12269916	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12417496	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12417511	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12576371	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs16926221	0.84[JPT][hapmap]
rs35567395	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4612777	0.84[ASN][1000 genomes]
rs4755439	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7117510	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7929112	0.88[ASN][1000 genomes]
rs7933303	0.84[ASN][1000 genomes]
rs7943612	0.84[ASN][1000 genomes]
rs7948709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7951966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36171400-36184000	Weak transcription	Right Atrium	heart
2	chr11:36171600-36187800	Weak transcription	Spleen	Spleen
3	chr11:36172000-36184000	Weak transcription	Pancreas	Pancrea
4	chr11:36172000-36184200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:36172600-36183400	Weak transcription	Hela-S3	cervix
6	chr11:36172600-36190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:36173000-36183200	Weak transcription	HSMMtube	muscle
8	chr11:36175000-36184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:36175200-36183800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:36175600-36184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:36175600-36184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:36176600-36184000	Weak transcription	Right Ventricle	heart
13	chr11:36178000-36184000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:36178200-36183200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:36178200-36186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:36178200-36187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:36178400-36183200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:36178400-36183800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:36178600-36184000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:36178800-36184000	Weak transcription	Brain Substantia Nigra	brain
21	chr11:36179000-36183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:36179000-36183800	Weak transcription	Adipose Nuclei	Adipose
23	chr11:36179000-36184400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:36179200-36183400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:36179200-36183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:36179200-36183800	Weak transcription	NHLF	lung
27	chr11:36179200-36185600	Weak transcription	NHEK	skin
28	chr11:36179400-36184000	Weak transcription	Left Ventricle	heart
29	chr11:36179400-36184000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:36179400-36184000	Weak transcription	NHDF-Ad	bronchial
31	chr11:36179400-36185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:36179400-36185800	Weak transcription	HSMM	muscle
33	chr11:36179600-36184000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:36179600-36184000	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:36179600-36184600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:36179800-36183200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:36179800-36184000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:36179800-36184600	Weak transcription	HUVEC	blood vessel
40	chr11:36180400-36183600	Enhancers	Brain Germinal Matrix	brain
41	chr11:36181200-36183800	Enhancers	Fetal Brain Female	brain
42	chr11:36181200-36187800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:36181200-36188000	Enhancers	Fetal Lung	lung
44	chr11:36181400-36183200	Enhancers	Fetal Heart	heart
45	chr11:36181400-36183400	Enhancers	Fetal Brain Male	brain
46	chr11:36181400-36186400	Enhancers	Fetal Muscle Leg	muscle
47	chr11:36181800-36183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36181800-36183800	Weak transcription	Placenta	Placenta
49	chr11:36181800-36184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:36181800-36184000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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