Variant report

Variant	rs7280064
Chromosome Location	chr21:16377650-16377651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041404	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1997577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2822998	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs2823003	0.87[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap]
rs2823017	0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap]
rs2823022	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs2823026	0.83[GIH][hapmap]
rs8132398	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs9982976	0.87[CHB][hapmap];0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
4	chr21:16362200-16385800	Weak transcription	K562	blood
5	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:16366000-16379000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr21:16369200-16377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:16370200-16383600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:16372200-16379200	Weak transcription	Primary B cells from cord blood	blood
12	chr21:16373400-16379600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:16373600-16379000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr21:16374000-16380000	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr21:16374200-16383400	Genic enhancers	HSMM	muscle
16	chr21:16374400-16377800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr21:16374600-16381400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:16374800-16379200	Weak transcription	Aorta	Aorta
19	chr21:16374800-16379200	Weak transcription	Esophagus	oesophagus
20	chr21:16374800-16379400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
22	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
23	chr21:16375000-16379200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr21:16375000-16379200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:16375200-16379800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr21:16375600-16377800	Enhancers	Brain Hippocampus Middle	brain
27	chr21:16375600-16378400	Enhancers	Small Intestine	intestine
28	chr21:16375600-16379600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:16375800-16378000	Enhancers	Fetal Intestine Large	intestine
30	chr21:16375800-16379200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:16375800-16379600	Enhancers	HUVEC	blood vessel
32	chr21:16375800-16387000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr21:16376000-16377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:16376200-16377800	Weak transcription	Right Atrium	heart
35	chr21:16376200-16377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:16376200-16378000	Enhancers	Fetal Intestine Small	intestine
37	chr21:16376200-16380400	Weak transcription	Gastric	stomach
38	chr21:16376200-16383000	Weak transcription	Pancreas	Pancrea
39	chr21:16376200-16392200	Weak transcription	Lung	lung
40	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:16376600-16377800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr21:16376600-16378000	Enhancers	HMEC	breast
43	chr21:16376600-16378600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
45	chr21:16376800-16377800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:16376800-16378000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr21:16376800-16378200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:16376800-16378200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:16376800-16378200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:16376800-16378800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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