Variant report

Variant	rs570202189
Chromosome Location	chr8:99903225-99903226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99901892..99903288-chr8:100009594..100010716,5	MCF-7	breast:
2	chr8:99901588..99905198-chr8:99953796..99957800,4	MCF-7	breast:
3	chr8:99901798..99904036-chr8:99961157..99963131,2	K562	blood:

Variant related genes	Relation type
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000271930	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99899800-99905400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:99900000-99904600	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:99900000-99904800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:99900000-99904800	Enhancers	Fetal Stomach	stomach
6	chr8:99900600-99904000	Enhancers	Fetal Lung	lung
7	chr8:99900600-99905000	Enhancers	Liver	Liver
8	chr8:99901000-99904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:99901600-99903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:99901600-99905000	Enhancers	Ovary	ovary
11	chr8:99901800-99904800	Enhancers	Colon Smooth Muscle	Colon
12	chr8:99901800-99904800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:99902200-99903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:99902200-99903600	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:99902400-99904400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:99902400-99904600	Enhancers	HSMMtube	muscle
17	chr8:99902600-99904600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:99903000-99904200	Enhancers	HSMM	muscle
19	chr8:99903000-99904400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:99903000-99904600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:99903000-99904600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:99903000-99904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:99903200-99903400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:99903200-99903400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:99903200-99903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:99903200-99903400	Enhancers	Adipose Nuclei	Adipose
27	chr8:99903200-99903400	Enhancers	Psoas Muscle	Psoas
28	chr8:99903200-99903600	Enhancers	Left Ventricle	heart
29	chr8:99903200-99903800	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:99903200-99904200	Weak transcription	K562	blood
31	chr8:99903200-99904400	Weak transcription	Fetal Kidney	kidney
32	chr8:99903200-99904600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:99903200-99904600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:99903200-99904600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:99903200-99904800	Enhancers	H1 Cell Line	embryonic stem cell

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