Variant report

Variant	rs760458
Chromosome Location	chr21:46328917-46328918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46220308..46222402-chr21:46328701..46333083,4	MCF-7	breast:
2	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
3	chr21:46328608..46330967-chr21:46493545..46495065,2	K562	blood:
4	chr21:46218715..46222663-chr21:46327180..46329613,3	K562	blood:
5	chr21:46220726..46223224-chr21:46328113..46331561,4	K562	blood:
6	chr21:46237568..46239229-chr21:46326775..46329685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184900	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2280965	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
13	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs760458	hCT1787658.2	cis	multi-tissue	Pritchard

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46314400-46330200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr21:46320000-46331000	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46322000-46331400	Genic enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:46322600-46330400	Weak transcription	HSMMtube	muscle
6	chr21:46322600-46330800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr21:46322800-46329400	Strong transcription	Dnd41	blood
8	chr21:46322800-46330200	Weak transcription	HSMM	muscle
9	chr21:46322800-46330600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46322800-46330600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:46322800-46330800	Weak transcription	Brain Anterior Caudate	brain
12	chr21:46323000-46330800	Weak transcription	Esophagus	oesophagus
13	chr21:46324200-46330200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr21:46324400-46330600	Weak transcription	Stomach Mucosa	stomach
15	chr21:46324600-46330400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr21:46324800-46330000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:46324800-46330000	Weak transcription	Pancreas	Pancrea
18	chr21:46324800-46330600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr21:46324800-46330800	Weak transcription	Gastric	stomach
20	chr21:46324800-46335400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:46325000-46331200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:46325400-46329200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:46325800-46329200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46325800-46330200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:46326200-46330800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr21:46326400-46330000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:46326600-46329400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:46326800-46331000	Genic enhancers	Fetal Thymus	thymus
29	chr21:46326800-46331600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr21:46326800-46335200	Enhancers	Placenta	Placenta
31	chr21:46327000-46329200	Enhancers	Lung	lung
32	chr21:46327000-46329600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr21:46327000-46330800	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr21:46327000-46332400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr21:46327200-46329000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
36	chr21:46327200-46329800	Genic enhancers	Primary T cells from cord blood	blood
37	chr21:46327400-46329000	Enhancers	GM12878-XiMat	blood
38	chr21:46327400-46329200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
39	chr21:46327400-46329600	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr21:46327600-46329000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr21:46327600-46329000	Enhancers	Fetal Intestine Large	intestine
42	chr21:46327600-46330000	Weak transcription	Brain Hippocampus Middle	brain
43	chr21:46327800-46329400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr21:46327800-46330000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:46327800-46331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr21:46328000-46329000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr21:46328200-46330000	Strong transcription	Thymus	Thymus
48	chr21:46328200-46330000	Enhancers	HepG2	liver
49	chr21:46328200-46330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:46328200-46331000	Weak transcription	HUVEC	blood vessel

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