Variant report

Variant	rs4578424
Chromosome Location	chr11:8108285-8108286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8106988..8108641-chr11:8110297..8112155,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10743049	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041734	0.82[MKK][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs11041738	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[MEX][hapmap]
rs2272382	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4575312	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103600-8109000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8103600-8109000	Enhancers	Left Ventricle	heart
3	chr11:8103600-8109600	Enhancers	Right Atrium	heart
4	chr11:8103600-8109600	Enhancers	Right Ventricle	heart
5	chr11:8103600-8115600	Weak transcription	Aorta	Aorta
6	chr11:8103800-8108400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:8104000-8111400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:8104200-8120000	Weak transcription	HSMM	muscle
10	chr11:8104400-8108800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:8104400-8109800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:8104400-8114000	Weak transcription	Osteobl	bone
13	chr11:8104600-8108800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:8104600-8109400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:8104600-8114000	Weak transcription	NHDF-Ad	bronchial
16	chr11:8104800-8112800	Weak transcription	A549	lung
17	chr11:8104800-8114200	Weak transcription	Esophagus	oesophagus
18	chr11:8105000-8108400	Enhancers	HSMMtube	muscle
19	chr11:8105000-8108600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:8105000-8109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:8105000-8109600	Enhancers	Brain Anterior Caudate	brain
22	chr11:8105400-8110000	Enhancers	Brain Angular Gyrus	brain
23	chr11:8105400-8111200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:8105400-8118000	Weak transcription	Fetal Kidney	kidney
25	chr11:8105400-8122000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:8105600-8109600	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:8105600-8109600	Enhancers	Brain Substantia Nigra	brain
28	chr11:8105600-8110200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:8105600-8114200	Weak transcription	Adipose Nuclei	Adipose
30	chr11:8105800-8108600	Enhancers	Brain Germinal Matrix	brain
31	chr11:8105800-8112600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:8105800-8114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:8105800-8127400	Weak transcription	HepG2	liver
34	chr11:8106400-8108400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:8106600-8108800	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:8106600-8109600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr11:8106800-8109000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:8106800-8110000	Enhancers	Fetal Lung	lung
39	chr11:8106800-8122400	Weak transcription	Spleen	Spleen
40	chr11:8107200-8108400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:8107200-8110000	Enhancers	Fetal Stomach	stomach
42	chr11:8107200-8118000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:8107400-8108600	Enhancers	Lung	lung
44	chr11:8107400-8108800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:8107600-8108400	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:8107600-8108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:8107600-8108800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:8107600-8109000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:8107800-8108600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:8107800-8108800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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