Variant report

Variant	rs180315
Chromosome Location	chr21:46265077-46265078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46263369..46266030-chr21:46361753..46363305,2	MCF-7	breast:
2	chr21:46249355..46252823-chr21:46264579..46267372,3	K562	blood:
3	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
4	chr21:46220066..46223506-chr21:46264882..46267873,4	MCF-7	breast:
5	chr21:46236130..46239998-chr21:46264824..46268393,7	MCF-7	breast:
6	chr21:46236105..46239351-chr21:46263407..46266107,3	MCF-7	breast:
7	chr21:46264366..46267434-chr21:46346160..46349229,4	MCF-7	breast:
8	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
9	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
10	chr21:46264845..46266495-chr21:46291044..46293226,2	MCF-7	breast:
11	chr21:46264380..46268999-chr21:46269204..46276124,8	K562	blood:
12	chr21:46264572..46266878-chr21:46303088..46304857,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236519	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs189286	0.86[EUR][1000 genomes]
rs190192	0.86[EUR][1000 genomes]
rs235259	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs235307	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235308	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235338	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs235339	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs235340	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs235341	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs235342	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs685675	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689968	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913967	chr21:46249752-46279505	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46257000-46265400	Weak transcription	Right Atrium	heart
2	chr21:46257200-46265400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46257200-46265400	Weak transcription	Spleen	Spleen
4	chr21:46258600-46265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:46262800-46265600	Enhancers	Placenta	Placenta
6	chr21:46264200-46267600	Enhancers	Gastric	stomach
7	chr21:46264400-46265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr21:46264400-46267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:46264600-46265400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr21:46264600-46265400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46264600-46265400	Enhancers	Duodenum Mucosa	Duodenum
12	chr21:46264600-46265400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr21:46264600-46265400	Enhancers	Stomach Mucosa	stomach
14	chr21:46264600-46265600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr21:46264600-46265600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:46264600-46265600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46264600-46265600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr21:46264600-46266000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:46264600-46266200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:46264600-46266400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46264600-46268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46264800-46265200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr21:46264800-46265200	Bivalent Enhancer	HepG2	liver
24	chr21:46264800-46265400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:46264800-46266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr21:46265000-46265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:46265000-46265200	Enhancers	Monocytes-CD14+_RO01746	blood

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