Variant report

Variant	rs4385931
Chromosome Location	chr11:8109648-8109649
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	chr11:8027342..8028618-chr11:8108548..8109930,5	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11041734	0.83[CEU][hapmap]
rs4570614	0.91[JPT][hapmap]
rs4758040	0.91[JPT][hapmap]
rs67510011	0.82[ASN][1000 genomes]
rs7944254	0.92[ASN][1000 genomes]
rs7944370	0.93[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103600-8115600	Weak transcription	Aorta	Aorta
2	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:8104000-8111400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:8104200-8120000	Weak transcription	HSMM	muscle
5	chr11:8104400-8109800	Enhancers	Fetal Muscle Leg	muscle
6	chr11:8104400-8114000	Weak transcription	Osteobl	bone
7	chr11:8104600-8114000	Weak transcription	NHDF-Ad	bronchial
8	chr11:8104800-8112800	Weak transcription	A549	lung
9	chr11:8104800-8114200	Weak transcription	Esophagus	oesophagus
10	chr11:8105400-8110000	Enhancers	Brain Angular Gyrus	brain
11	chr11:8105400-8111200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:8105400-8118000	Weak transcription	Fetal Kidney	kidney
13	chr11:8105400-8122000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:8105600-8110200	Enhancers	Brain Hippocampus Middle	brain
15	chr11:8105600-8114200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:8105800-8112600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:8105800-8114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:8105800-8127400	Weak transcription	HepG2	liver
19	chr11:8106800-8110000	Enhancers	Fetal Lung	lung
20	chr11:8106800-8122400	Weak transcription	Spleen	Spleen
21	chr11:8107200-8110000	Enhancers	Fetal Stomach	stomach
22	chr11:8107200-8118000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:8108000-8114200	Weak transcription	Pancreas	Pancrea
24	chr11:8108000-8115400	Weak transcription	Ovary	ovary
25	chr11:8108000-8116000	Weak transcription	NHLF	lung
26	chr11:8108000-8117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:8108200-8111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:8108200-8114200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:8108200-8115400	Weak transcription	Fetal Brain Female	brain
30	chr11:8108200-8115600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:8108400-8110800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:8108400-8112800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:8108400-8118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:8108600-8115000	Weak transcription	Brain Germinal Matrix	brain
35	chr11:8108600-8116400	Weak transcription	Fetal Brain Male	brain
36	chr11:8108600-8117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:8108600-8118000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:8108800-8113000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:8108800-8114000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:8108800-8114600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:8108800-8115600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:8108800-8115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:8108800-8115800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:8108800-8115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:8108800-8116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:8108800-8117800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:8108800-8118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:8109000-8111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:8109000-8112600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:8109000-8113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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