Variant report

Variant	rs9983107
Chromosome Location	chr21:16405590-16405591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28695679	1.00[AMR][1000 genomes]
rs28705212	1.00[AMR][1000 genomes]
rs58449654	1.00[AMR][1000 genomes]
rs61017534	1.00[AMR][1000 genomes]
rs73338820	1.00[AMR][1000 genomes]
rs73338822	1.00[AMR][1000 genomes]
rs9975783	0.97[AFR][1000 genomes]
rs9981346	1.00[AMR][1000 genomes]
rs9983502	1.00[AMR][1000 genomes]
rs9984529	1.00[AMR][1000 genomes]
rs9985093	1.00[AMR][1000 genomes]

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	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
5	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
4	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
6	chr21:16379600-16414800	Weak transcription	Ovary	ovary
7	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr21:16386000-16413200	Weak transcription	K562	blood
12	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
16	chr21:16393800-16406800	Weak transcription	Dnd41	blood
17	chr21:16394400-16406200	Weak transcription	HMEC	breast
18	chr21:16395600-16406800	Weak transcription	NHEK	skin
19	chr21:16396400-16406000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
21	chr21:16396600-16406200	Weak transcription	NHLF	lung
22	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:16397600-16406200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
25	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
26	chr21:16400600-16406200	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:16400800-16405800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:16400800-16406000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:16400800-16406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:16400800-16406400	Weak transcription	Fetal Lung	lung
32	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr21:16401200-16411400	Weak transcription	Fetal Kidney	kidney
34	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr21:16401600-16407200	Strong transcription	HSMM	muscle
36	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
38	chr21:16401800-16406000	Weak transcription	Small Intestine	intestine
39	chr21:16401800-16406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr21:16401800-16413200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr21:16401800-16413200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:16402000-16405800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:16402200-16406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr21:16402200-16414800	Weak transcription	Pancreas	Pancrea
45	chr21:16402400-16405800	Weak transcription	Liver	Liver
46	chr21:16402400-16414600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr21:16402400-16416200	Weak transcription	Right Ventricle	heart
48	chr21:16402400-16420600	Weak transcription	Brain Angular Gyrus	brain
49	chr21:16402600-16406000	Weak transcription	NHDF-Ad	bronchial
50	chr21:16402600-16411400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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