Variant report

Variant	rs181811054
Chromosome Location	chr8:48629511-48629512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48629245..48631641-chr8:48646004..48648559,2	MCF-7	breast:
2	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
3	chr8:48628140..48630229-chr8:48635547..48637579,2	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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
5	nsv971233	chr8:48629417-48631557	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:48611800-48632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:48612000-48647400	Weak transcription	NH-A	brain
9	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:48613600-48632200	Weak transcription	Fetal Brain Female	brain
11	chr8:48613600-48636600	Weak transcription	NHDF-Ad	bronchial
12	chr8:48613600-48647200	Weak transcription	A549	lung
13	chr8:48615400-48632600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:48615800-48634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:48616400-48632600	Weak transcription	Fetal Brain Male	brain
16	chr8:48618000-48638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48623400-48631400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:48623600-48629600	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:48624000-48630600	Strong transcription	Primary B cells from cord blood	blood
25	chr8:48624200-48630200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:48624200-48641600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:48624600-48629600	Weak transcription	Right Atrium	heart
29	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:48624800-48635600	Weak transcription	K562	blood
31	chr8:48626200-48632200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:48626200-48638400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
34	chr8:48626400-48632600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:48626400-48634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48626600-48629600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:48626600-48632200	Weak transcription	Brain Germinal Matrix	brain
38	chr8:48626600-48632400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:48626600-48639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:48626600-48646400	Weak transcription	Osteobl	bone
41	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:48626800-48629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:48626800-48629600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:48626800-48629600	Weak transcription	Right Ventricle	heart
46	chr8:48626800-48630000	Weak transcription	HepG2	liver
47	chr8:48626800-48631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:48626800-48632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:48626800-48632200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:48626800-48632200	Weak transcription	Placenta Amnion	Placenta Amnion

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