Variant report

Variant	rs6516754
Chromosome Location	chr21:15749857-15749858
allele	G/T
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11088017	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13050350	0.86[ASN][1000 genomes]
rs13051824	0.82[CEU][hapmap]
rs2242661	0.81[YRI][hapmap]
rs2822625	0.83[ASN][1000 genomes]
rs2822626	0.86[ASN][1000 genomes]
rs2822627	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2822628	0.91[ASN][1000 genomes]
rs2822634	0.91[ASN][1000 genomes]
rs2822637	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35215294	0.93[ASN][1000 genomes]
rs71315768	0.91[ASN][1000 genomes]
rs71315769	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs975828	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr21:15744400-15750000	Strong transcription	NHDF-Ad	bronchial
8	chr21:15744400-15750600	Strong transcription	Placenta	Placenta
9	chr21:15744600-15750000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:15744600-15751000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:15744600-15751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:15744600-15751400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr21:15744600-15751400	Strong transcription	Fetal Intestine Large	intestine
14	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:15744800-15750600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:15744800-15750600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:15744800-15750800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:15744800-15750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:15744800-15750800	Strong transcription	HMEC	breast
22	chr21:15744800-15751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:15744800-15751400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:15744800-15751600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr21:15744800-15752000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:15744800-15753000	Weak transcription	Fetal Heart	heart
27	chr21:15745000-15750400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:15745000-15750400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:15745000-15750600	Strong transcription	Adipose Nuclei	Adipose
30	chr21:15745000-15750800	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr21:15745000-15750800	Strong transcription	Fetal Brain Female	brain
32	chr21:15745000-15750800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr21:15745000-15751000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:15745000-15751000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:15745000-15751000	Strong transcription	Liver	Liver
36	chr21:15745000-15751200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr21:15745000-15751200	Strong transcription	Primary B cells from cord blood	blood
38	chr21:15745000-15751400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:15745000-15751400	Strong transcription	Dnd41	blood
40	chr21:15745000-15752000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr21:15745000-15752000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:15745000-15752400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:15745000-15753000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
45	chr21:15745200-15750400	Strong transcription	Brain Germinal Matrix	brain
46	chr21:15745200-15750800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:15745200-15750800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr21:15745200-15751200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:15745200-15752000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:15745200-15752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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