Variant report

Variant	rs17002684
Chromosome Location	chr21:15748935-15748936
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	chr21:15740980..15743787-chr21:15748039..15750871,3	K562	blood:
2	chr21:15748798..15750660-chr21:15754088..15755961,2	K562	blood:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

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

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

rs_ID	r²[population]
rs17002633	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002643	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002662	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17240438	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17306192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822639	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3178188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974725	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979385	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15743400-15753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:15743800-15750600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:15743800-15750800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:15743800-15752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:15744000-15749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:15744200-15749800	Weak transcription	Psoas Muscle	Psoas
8	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:15744400-15749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:15744400-15749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:15744400-15750000	Strong transcription	NHDF-Ad	bronchial
12	chr21:15744400-15750600	Strong transcription	Placenta	Placenta
13	chr21:15744600-15749000	Weak transcription	Colonic Mucosa	Colon
14	chr21:15744600-15749800	Weak transcription	Small Intestine	intestine
15	chr21:15744600-15750000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:15744600-15751000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:15744600-15751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:15744600-15751400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr21:15744600-15751400	Strong transcription	Fetal Intestine Large	intestine
20	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:15744800-15750600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:15744800-15750600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:15744800-15750800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:15744800-15750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr21:15744800-15750800	Strong transcription	HMEC	breast
28	chr21:15744800-15751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:15744800-15751400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:15744800-15751600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr21:15744800-15752000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:15744800-15753000	Weak transcription	Fetal Heart	heart
33	chr21:15745000-15750400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:15745000-15750400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr21:15745000-15750600	Strong transcription	Adipose Nuclei	Adipose
36	chr21:15745000-15750800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr21:15745000-15750800	Strong transcription	Fetal Brain Female	brain
38	chr21:15745000-15750800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr21:15745000-15751000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:15745000-15751000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:15745000-15751000	Strong transcription	Liver	Liver
42	chr21:15745000-15751200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr21:15745000-15751200	Strong transcription	Primary B cells from cord blood	blood
44	chr21:15745000-15751400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:15745000-15751400	Strong transcription	Dnd41	blood
46	chr21:15745000-15752000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:15745000-15752000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:15745000-15752400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:15745000-15753000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach

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