Variant report

Variant	rs548527443
Chromosome Location	chr6:114182996-114182997
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:113964552..113967035-chr6:114182588..114184413,2	MCF-7	breast:
2	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv482098	chr6:114178527-114184652	Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
5	nsv965756	chr6:114182421-114183723	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:114175600-114183600	Active TSS	Right Atrium	heart
3	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
5	chr6:114177600-114183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:114178000-114183000	Active TSS	Fetal Muscle Leg	muscle
7	chr6:114179400-114184200	Active TSS	Fetal Brain Female	brain
8	chr6:114180600-114183600	Active TSS	Brain Germinal Matrix	brain
9	chr6:114181000-114184000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:114181000-114184600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:114181200-114183000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr6:114181200-114184000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:114181200-114193200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:114181400-114183800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
16	chr6:114181600-114184000	Transcr. at gene 5' and 3'	NH-A	brain
17	chr6:114181600-114184200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:114181800-114183000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:114181800-114183000	Enhancers	Primary B cells from cord blood	blood
20	chr6:114181800-114183000	Active TSS	Fetal Stomach	stomach
21	chr6:114181800-114183200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:114181800-114183400	Transcr. at gene 5' and 3'	Osteobl	bone
23	chr6:114181800-114183600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
24	chr6:114181800-114183600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr6:114181800-114184000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:114181800-114184200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:114181800-114184200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:114181800-114186000	Weak transcription	Lung	lung
29	chr6:114181800-114193200	Weak transcription	Liver	Liver
30	chr6:114181800-114194200	Weak transcription	Pancreas	Pancrea
31	chr6:114182000-114183000	Enhancers	Fetal Heart	heart
32	chr6:114182000-114183000	Enhancers	Stomach Mucosa	stomach
33	chr6:114182000-114183600	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:114182000-114184400	Strong transcription	Fetal Thymus	thymus
35	chr6:114182000-114187400	Weak transcription	Colonic Mucosa	Colon
36	chr6:114182200-114183000	Active TSS	NHLF	lung
37	chr6:114182200-114183400	Active TSS	Brain Anterior Caudate	brain
38	chr6:114182200-114183400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:114182200-114183400	Weak transcription	A549	lung
40	chr6:114182200-114183600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:114182200-114183600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:114182200-114183600	Weak transcription	Brain Substantia Nigra	brain
43	chr6:114182200-114183800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr6:114182200-114183800	Enhancers	NHEK	skin
45	chr6:114182200-114184200	Genic enhancers	HSMM	muscle
46	chr6:114182200-114184400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:114182200-114192600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:114182200-114194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:114182200-114194200	Weak transcription	Ovary	ovary
50	chr6:114182400-114183000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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