Variant report

Variant	rs9980891
Chromosome Location	chr21:46322516-46322517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46222418..46224515-chr21:46321449..46323045,2	MCF-7	breast:
2	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
3	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
4	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
5	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
6	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28438743	1.00[AMR][1000 genomes]
rs58645077	1.00[AMR][1000 genomes]
rs73380573	1.00[AMR][1000 genomes]
rs73382608	1.00[AMR][1000 genomes]
rs73382614	1.00[AMR][1000 genomes]
rs9976146	1.00[AMR][1000 genomes]
rs9983887	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
5	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
6	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
7	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv459301	chr21:46306161-46322853	Bivalent Enhancer Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv587815	chr21:46306161-46322853	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv913972	chr21:46306161-46322853	Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv516593	chr21:46306161-46323731	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv913973	chr21:46306161-46323731	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	nsv587816	chr21:46307495-46322853	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv817935	chr21:46311264-46323731	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	esv3347085	chr21:46320424-46323822	Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3376461	chr21:46321374-46323872	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr21:46313800-46324800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr21:46313800-46326600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:46313800-46326800	Strong transcription	Fetal Thymus	thymus
7	chr21:46314200-46323000	Strong transcription	Thymus	Thymus
8	chr21:46314400-46330200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:46314600-46324800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:46316000-46324400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:46316400-46324000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:46316600-46327200	Strong transcription	Primary T cells from cord blood	blood
13	chr21:46317200-46324800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46317600-46324200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:46317800-46324200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr21:46317800-46325400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:46318200-46325000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr21:46318200-46327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:46318400-46325000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:46318400-46325000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:46318600-46324600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:46318800-46322800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr21:46319400-46325800	Weak transcription	Fetal Intestine Small	intestine
24	chr21:46319600-46326800	Genic enhancers	Spleen	Spleen
25	chr21:46320000-46323400	Strong transcription	Primary B cells from cord blood	blood
26	chr21:46320000-46326200	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:46320000-46331000	Weak transcription	Brain Substantia Nigra	brain
28	chr21:46321000-46326400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr21:46321600-46322600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr21:46321600-46322600	Strong transcription	Liver	Liver
31	chr21:46321600-46322800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:46321600-46322800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr21:46321800-46322600	ZNF genes & repeats	Fetal Kidney	kidney
34	chr21:46321800-46322600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:46321800-46322800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:46321800-46322800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:46321800-46322800	ZNF genes & repeats	Pancreas	Pancrea
38	chr21:46321800-46322800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr21:46321800-46322800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr21:46321800-46322800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr21:46321800-46322800	Strong transcription	HepG2	liver
42	chr21:46321800-46323000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:46322000-46322600	ZNF genes & repeats	Esophagus	oesophagus
44	chr21:46322000-46322600	Strong transcription	HSMMtube	muscle
45	chr21:46322000-46322800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:46322000-46322800	Strong transcription	Brain Anterior Caudate	brain
47	chr21:46322000-46322800	ZNF genes & repeats	HSMM	muscle
48	chr21:46322000-46331400	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr21:46322200-46322600	Genic enhancers	Adipose Nuclei	Adipose
50	chr21:46322200-46323800	Enhancers	Lung	lung

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