Variant report

Variant	rs147263030
Chromosome Location	chr21:16380995-16380996
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	chr21:16379403..16381413-chr21:16433127..16435083,2	MCF-7	breast:

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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
3	chr21:16362200-16385800	Weak transcription	K562	blood
4	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:16370200-16383600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:16374200-16383400	Genic enhancers	HSMM	muscle
9	chr21:16374600-16381400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
11	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
12	chr21:16375800-16387000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:16376200-16383000	Weak transcription	Pancreas	Pancrea
14	chr21:16376200-16392200	Weak transcription	Lung	lung
15	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:16377000-16381800	Weak transcription	Spleen	Spleen
18	chr21:16377000-16382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:16378000-16383200	Weak transcription	Fetal Brain Male	brain
20	chr21:16378000-16383400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr21:16378000-16387400	Weak transcription	HMEC	breast
22	chr21:16378000-16387400	Weak transcription	NHEK	skin
23	chr21:16378000-16388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:16378200-16382400	Weak transcription	Fetal Brain Female	brain
25	chr21:16378200-16382800	Weak transcription	Fetal Stomach	stomach
26	chr21:16378200-16383200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:16378200-16383400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr21:16378200-16387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:16378200-16390600	Weak transcription	Brain Substantia Nigra	brain
30	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:16378600-16383400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:16378800-16388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:16378800-16390600	Weak transcription	Colon Smooth Muscle	Colon
35	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:16379000-16381000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr21:16379000-16381000	Genic enhancers	HepG2	liver
38	chr21:16379000-16381800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr21:16379200-16381000	Strong transcription	Primary B cells from cord blood	blood
41	chr21:16379200-16381200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:16379200-16382000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:16379200-16383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr21:16379400-16381000	Strong transcription	Fetal Thymus	thymus
45	chr21:16379400-16382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:16379400-16386800	Weak transcription	Brain Angular Gyrus	brain
47	chr21:16379400-16386800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:16379400-16390800	Weak transcription	Brain Anterior Caudate	brain
49	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine

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