Variant report

Variant	rs550449162
Chromosome Location	chr6:13420338-13420339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13417839..13420815-chr6:13486813..13488730,2	MCF-7	breast:
2	chr6:13356302..13358883-chr6:13419456..13420974,2	K562	blood:
3	chr6:13419746..13422416-chr6:13574078..13576571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000145990	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:13408600-13422600	Weak transcription	HSMM	muscle
3	chr6:13408800-13423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:13411400-13421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:13411600-13424200	Enhancers	Right Ventricle	heart
6	chr6:13414000-13421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:13414000-13421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:13414000-13421800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:13414000-13422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:13414600-13422000	Weak transcription	NHLF	lung
11	chr6:13415000-13420400	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:13415400-13422600	Weak transcription	Gastric	stomach
13	chr6:13417200-13420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:13417200-13424200	Enhancers	Brain Angular Gyrus	brain
15	chr6:13417600-13422000	Enhancers	Brain Hippocampus Middle	brain
16	chr6:13417600-13424000	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:13417800-13420400	Enhancers	Pancreas	Pancrea
18	chr6:13417800-13420800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:13417800-13424000	Enhancers	Adipose Nuclei	Adipose
20	chr6:13417800-13424200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:13417800-13424200	Enhancers	Left Ventricle	heart
22	chr6:13417800-13424600	Enhancers	Right Atrium	heart
23	chr6:13417800-13424800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:13417800-13427000	Enhancers	Psoas Muscle	Psoas
25	chr6:13418200-13420600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:13418200-13421400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:13418200-13421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:13418200-13421800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:13418400-13421000	Enhancers	Liver	Liver
30	chr6:13418400-13421400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:13418400-13421800	Weak transcription	Fetal Kidney	kidney
32	chr6:13418600-13420400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:13418800-13420800	Enhancers	Spleen	Spleen
34	chr6:13418800-13421800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:13418800-13422600	Weak transcription	HepG2	liver
36	chr6:13418800-13422600	Enhancers	HUVEC	blood vessel
37	chr6:13418800-13422800	Enhancers	Fetal Heart	heart
38	chr6:13419000-13421200	Enhancers	Fetal Muscle Leg	muscle
39	chr6:13419200-13420400	Strong transcription	NHEK	skin
40	chr6:13419200-13420600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:13419200-13421400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:13419200-13424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:13419200-13428200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:13419400-13420400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:13419400-13420600	Enhancers	Thymus	Thymus
46	chr6:13419400-13420800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr6:13419400-13421000	Enhancers	Placenta	Placenta
48	chr6:13419400-13424000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr6:13419400-13429800	Enhancers	Fetal Lung	lung
50	chr6:13419600-13420400	Genic enhancers	GM12878-XiMat	blood

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