Variant report

Variant	rs548506128
Chromosome Location	chr6:163935011-163935012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163846486..163849719-chr6:163934600..163936577,3	K562	blood:
2	chr6:163933236..163935376-chr6:163942344..163945131,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
4	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
6	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:163928800-163942800	Weak transcription	HSMM	muscle
9	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
11	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:163929200-163946800	Weak transcription	HMEC	breast
15	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
20	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:163930400-163940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:163930400-163941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:163930600-163938000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:163930600-163943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:163933200-163935200	Enhancers	Brain Anterior Caudate	brain
28	chr6:163933200-163935200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:163933400-163939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:163933800-163937800	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:163934000-163935200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:163934000-163937800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:163934000-163939800	Enhancers	Fetal Heart	heart
34	chr6:163934200-163935200	Enhancers	A549	lung
35	chr6:163934200-163935200	Enhancers	HepG2	liver
36	chr6:163934200-163935800	Enhancers	Brain Substantia Nigra	brain
37	chr6:163934200-163946600	Weak transcription	NHEK	skin
38	chr6:163934200-163949200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:163934600-163935200	Genic enhancers	Brain Hippocampus Middle	brain
40	chr6:163934600-163935200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:163934600-163935200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:163934600-163935400	Enhancers	Liver	Liver
43	chr6:163934800-163935200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:163934800-163935200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:163934800-163935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:163934800-163935200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:163934800-163935200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:163934800-163935200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:163934800-163935200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:163934800-163935200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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