Variant report

Variant	rs73161257
Chromosome Location	chr21:15916623-15916624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15915978..15918625-chr21:15919465..15922478,3	K562	blood:
2	chr21:15915395..15917614-chr21:16129062..16131798,2	K562	blood:
3	chr21:15916304..15917888-chr21:16008677..16010503,2	K562	blood:
4	chr21:15915303..15917955-chr21:15967480..15970218,2	K562	blood:
5	chr21:15915915..15918568-chr21:15923468..15925442,2	K562	blood:
6	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:
7	chr21:15916330..15918586-chr21:16097161..16099794,2	K562	blood:

Variant related genes	Relation type
ENSG00000223662	Chromatin interaction
ENSG00000155307	Chromatin interaction
ENSG00000228600	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73161228	1.00[AMR][1000 genomes]
rs73161241	1.00[AFR][1000 genomes]
rs73161242	1.00[AMR][1000 genomes]
rs73161243	1.00[AMR][1000 genomes]
rs73161253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73161274	1.00[AFR][1000 genomes]
rs73161276	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2763685	chr21:15904945-15933282	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv587048	chr21:15908642-15932610	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv522627	chr21:15908642-15936503	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15913600-15917000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr21:15913600-15917200	Flanking Active TSS	Dnd41	blood
3	chr21:15913600-15919200	Active TSS	K562	blood
4	chr21:15913800-15917000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr21:15913800-15918000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr21:15914000-15918800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr21:15914000-15919000	Active TSS	GM12878-XiMat	blood
8	chr21:15914200-15918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:15914400-15918000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr21:15914800-15917800	Weak transcription	Thymus	Thymus
11	chr21:15914800-15918600	Active TSS	Primary B cells from cord blood	blood
12	chr21:15915400-15918400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:15915600-15918800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr21:15916000-15918600	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr21:15916000-15918600	Active TSS	Adipose Nuclei	Adipose
16	chr21:15916200-15916800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr21:15916200-15916800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr21:15916200-15916800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr21:15916200-15916800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr21:15916200-15916800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr21:15916200-15916800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:15916200-15917000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:15916200-15918400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr21:15916200-15918400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr21:15916200-15918600	Active TSS	Duodenum Mucosa	Duodenum
26	chr21:15916400-15916800	Enhancers	Primary B cells from peripheral blood	blood
27	chr21:15916400-15916800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr21:15916400-15916800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr21:15916400-15916800	Active TSS	Brain Anterior Caudate	brain
30	chr21:15916400-15916800	Active TSS	Brain Hippocampus Middle	brain
31	chr21:15916400-15916800	Enhancers	Fetal Thymus	thymus
32	chr21:15916400-15916800	Flanking Active TSS	HUVEC	blood vessel
33	chr21:15916400-15917000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr21:15916400-15917600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:15916400-15918400	Active TSS	Fetal Muscle Leg	muscle
36	chr21:15916400-15918800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr21:15916600-15918200	Weak transcription	Right Atrium	heart
38	chr21:15916600-15918800	Active TSS	Primary hematopoietic stem cells	blood
39	chr21:15916600-15918800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:15916600-15918800	Active TSS	Primary T helper cells PMA-I stimulated	--

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