Variant report

Variant	rs73357263
Chromosome Location	chr21:17122683-17122684
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	chr21:17121263..17123662-chr21:17127297..17128832,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11911790	1.00[EUR][1000 genomes]
rs16988554	1.00[EUR][1000 genomes]
rs2823523	1.00[EUR][1000 genomes]
rs28691689	1.00[EUR][1000 genomes]
rs7283884	1.00[EUR][1000 genomes]
rs73355477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73357280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892558	1.00[EUR][1000 genomes]
rs8128012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
4	chr21:17112800-17123400	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:17113400-17123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:17114600-17123800	Weak transcription	Brain Anterior Caudate	brain
8	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
9	chr21:17114800-17126600	Weak transcription	NH-A	brain
10	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:17115400-17123400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
14	chr21:17115600-17133400	Weak transcription	Dnd41	blood
15	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:17116200-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:17116600-17124200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr21:17116600-17124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:17116600-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
25	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
26	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
27	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
28	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
29	chr21:17116800-17124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
31	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:17119400-17124400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr21:17120000-17122800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr21:17120000-17124400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr21:17120600-17123800	Enhancers	Colon Smooth Muscle	Colon
37	chr21:17120800-17123400	Weak transcription	Small Intestine	intestine
38	chr21:17120800-17124600	Weak transcription	Spleen	Spleen
39	chr21:17121000-17124400	Enhancers	Adipose Nuclei	Adipose
40	chr21:17121200-17122800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr21:17121200-17123200	Enhancers	Stomach Smooth Muscle	stomach
42	chr21:17121400-17123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:17121400-17123600	Weak transcription	Fetal Brain Male	brain
44	chr21:17121400-17125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:17121400-17125600	Weak transcription	Fetal Brain Female	brain
46	chr21:17121600-17123000	Weak transcription	Primary T cells from cord blood	blood
47	chr21:17121600-17123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:17121600-17125200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr21:17121800-17125200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr21:17122000-17125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links