Variant report

Variant	rs5030668
Chromosome Location	chr21:46326815-46326816
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46222437..46224776-chr21:46325031..46327973,2	K562	blood:
2	chr21:46325898..46328647-chr21:46340477..46342252,2	K562	blood:
3	chr21:46324305..46327726-chr21:46329311..46331639,4	K562	blood:
4	chr21:46300718..46303390-chr21:46325614..46327160,2	MCF-7	breast:
5	chr21:46325796..46328647-chr21:46340477..46342363,2	K562	blood:
6	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
7	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
8	chr21:46326231..46328580-chr21:46511672..46514505,2	MCF-7	breast:
9	chr21:46237568..46239229-chr21:46326775..46329685,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11702367	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2026882	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35963032	0.82[AMR][1000 genomes]
rs3746972	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5030669	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60426421	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62221526	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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	nsv459302	chr21:46311264-46327835	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv587817	chr21:46311264-46327835	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

Chromatin state (count:60 , 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	chr21:46316600-46327200	Strong transcription	Primary T cells from cord blood	blood
4	chr21:46318200-46327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:46320000-46331000	Weak transcription	Brain Substantia Nigra	brain
6	chr21:46322000-46331400	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr21:46322200-46327200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
8	chr21:46322600-46328600	Weak transcription	Liver	Liver
9	chr21:46322600-46330400	Weak transcription	HSMMtube	muscle
10	chr21:46322600-46330800	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr21:46322800-46327400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:46322800-46327400	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr21:46322800-46327600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr21:46322800-46329400	Strong transcription	Dnd41	blood
15	chr21:46322800-46330200	Weak transcription	HSMM	muscle
16	chr21:46322800-46330600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr21:46322800-46330600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:46322800-46330800	Weak transcription	Brain Anterior Caudate	brain
19	chr21:46323000-46328400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:46323000-46330800	Weak transcription	Esophagus	oesophagus
21	chr21:46323800-46327200	Weak transcription	GM12878-XiMat	blood
22	chr21:46324000-46327000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:46324200-46327000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr21:46324200-46330200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr21:46324400-46327200	Strong transcription	Thymus	Thymus
26	chr21:46324400-46330600	Weak transcription	Stomach Mucosa	stomach
27	chr21:46324600-46330400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:46324800-46327000	Weak transcription	Lung	lung
29	chr21:46324800-46330000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr21:46324800-46330000	Weak transcription	Pancreas	Pancrea
31	chr21:46324800-46330600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr21:46324800-46330800	Weak transcription	Gastric	stomach
33	chr21:46324800-46335400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:46325000-46331200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:46325400-46327000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr21:46325400-46329200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46325800-46329200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:46325800-46330200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:46326200-46327000	Enhancers	Fetal Muscle Leg	muscle
40	chr21:46326200-46327800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr21:46326200-46328600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr21:46326200-46330800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr21:46326400-46327600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:46326400-46330000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:46326600-46327400	Enhancers	Colon Smooth Muscle	Colon
46	chr21:46326600-46327600	Enhancers	Primary B cells from cord blood	blood
47	chr21:46326600-46327800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:46326600-46328200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:46326600-46328800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr21:46326600-46329400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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