Variant report

Variant	rs574863592
Chromosome Location	chr8:119111300-119111301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119110587..119114764-chr8:119114883..119119035,6	MCF-7	breast:
2	chr8:119105713..119109279-chr8:119110657..119113887,4	K562	blood:
3	chr8:119111299..119112832-chr8:119114970..119116510,2	MCF-7	breast:
4	chr8:119105713..119109059-chr8:119110657..119113887,3	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv932638	chr8:119111068-119115831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
9	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
10	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
13	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:119103600-119111600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:119103800-119111400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:119105200-119112800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:119106400-119111400	Weak transcription	Psoas Muscle	Psoas
22	chr8:119107200-119111400	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
24	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:119107400-119112200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:119107400-119113200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:119108600-119111400	Strong transcription	Fetal Intestine Small	intestine
29	chr8:119108600-119114200	Genic enhancers	NHEK	skin
30	chr8:119108600-119114400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:119108800-119114200	Genic enhancers	Osteobl	bone
32	chr8:119109000-119111800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:119109000-119112400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:119109000-119112600	Genic enhancers	HMEC	breast
35	chr8:119109000-119113800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:119109400-119112800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:119109600-119111400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:119109600-119114800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:119109800-119111400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:119109800-119111800	Strong transcription	Dnd41	blood
41	chr8:119109800-119112400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:119109800-119112400	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr8:119109800-119112400	Genic enhancers	HSMM	muscle
44	chr8:119109800-119112600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:119109800-119112800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:119109800-119112800	Genic enhancers	Aorta	Aorta
47	chr8:119109800-119112800	Enhancers	Right Atrium	heart
48	chr8:119109800-119113800	Genic enhancers	NH-A	brain
49	chr8:119109800-119114000	Genic enhancers	NHDF-Ad	bronchial
50	chr8:119109800-119114000	Genic enhancers	NHLF	lung

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