Variant report

Variant	rs2838748
Chromosome Location	chr21:46384290-46384291
allele	C/T
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	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
2	chr21:46383706..46385414-chr21:46392290..46394103,2	MCF-7	breast:
3	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
4	chr21:46379489..46382435-chr21:46383248..46384908,2	K562	blood:
5	chr21:46380660..46386413-chr21:46492365..46496597,10	K562	blood:
6	chr21:46357525..46361892-chr21:46382885..46387113,6	K562	blood:
7	chr21:46367287..46370938-chr21:46384010..46388059,3	K562	blood:
8	chr21:46357525..46360333-chr21:46383091..46387113,3	K562	blood:
9	chr21:46383670..46385580-chr21:46395404..46396964,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs421557	0.86[AMR][1000 genomes]
rs55633511	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55637516	0.86[AMR][1000 genomes]
rs55705724	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55835776	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55989453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56283815	1.00[EUR][1000 genomes]
rs56297608	1.00[EUR][1000 genomes]
rs57677709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57835164	0.93[AMR][1000 genomes]
rs58184639	1.00[EUR][1000 genomes]
rs58929845	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58951027	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58977945	1.00[EUR][1000 genomes]
rs59163354	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59226008	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59267673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59281465	1.00[EUR][1000 genomes]
rs59318141	1.00[EUR][1000 genomes]
rs59444929	1.00[EUR][1000 genomes]
rs59573927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59586139	0.93[AMR][1000 genomes]
rs59730475	1.00[EUR][1000 genomes]
rs60088468	1.00[EUR][1000 genomes]
rs60725487	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61674083	0.93[AMR][1000 genomes]
rs7276874	0.81[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277529	1.00[EUR][1000 genomes]
rs7278296	1.00[EUR][1000 genomes]
rs7278617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283338	1.00[EUR][1000 genomes]
rs7283630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283920	0.93[AMR][1000 genomes]
rs73376557	1.00[EUR][1000 genomes]
rs73906965	1.00[EUR][1000 genomes]
rs73906966	1.00[EUR][1000 genomes]
rs73906968	1.00[EUR][1000 genomes]
rs73906970	1.00[EUR][1000 genomes]
rs73906971	1.00[EUR][1000 genomes]
rs73906974	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906981	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906984	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906985	1.00[EUR][1000 genomes]
rs73907002	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73909903	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73909905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73909906	1.00[EUR][1000 genomes]
rs73909911	1.00[EUR][1000 genomes]
rs8127517	1.00[EUR][1000 genomes]
rs8129398	1.00[EUR][1000 genomes]
rs8130143	1.00[EUR][1000 genomes]
rs8130435	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8134047	1.00[EUR][1000 genomes]
rs879479	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
2	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:46364200-46391400	Strong transcription	Dnd41	blood
4	chr21:46370000-46385000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:46370600-46384800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:46371200-46384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:46373000-46385400	Weak transcription	Fetal Brain Male	brain
8	chr21:46373800-46385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:46373800-46387600	Strong transcription	HepG2	liver
10	chr21:46375200-46385600	Strong transcription	K562	blood
11	chr21:46377600-46386200	Strong transcription	Hela-S3	cervix
12	chr21:46379400-46385000	Genic enhancers	HSMM	muscle
13	chr21:46379400-46385600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr21:46379600-46388400	Weak transcription	Stomach Mucosa	stomach
15	chr21:46379800-46385400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:46380000-46384800	Strong transcription	GM12878-XiMat	blood
17	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
18	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
19	chr21:46380400-46385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:46380400-46386200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:46380600-46385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:46380600-46385600	Weak transcription	Fetal Brain Female	brain
23	chr21:46380600-46385800	Weak transcription	Esophagus	oesophagus
24	chr21:46380800-46385200	Weak transcription	A549	lung
25	chr21:46380800-46385400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:46380800-46385600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:46380800-46385600	Weak transcription	Brain Germinal Matrix	brain
28	chr21:46380800-46385600	Weak transcription	Lung	lung
29	chr21:46380800-46387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
31	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
32	chr21:46381400-46384800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:46381400-46387000	Weak transcription	Colonic Mucosa	Colon
34	chr21:46381600-46389400	Weak transcription	NHDF-Ad	bronchial
35	chr21:46381800-46385400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:46382400-46384800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr21:46382400-46387400	Weak transcription	Pancreas	Pancrea
38	chr21:46382600-46384600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:46382600-46384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:46382600-46388200	Weak transcription	Liver	Liver
41	chr21:46382800-46384800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr21:46382800-46384800	Weak transcription	Primary B cells from cord blood	blood
43	chr21:46382800-46384800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:46382800-46384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:46382800-46384800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr21:46382800-46385000	Weak transcription	Thymus	Thymus
47	chr21:46382800-46385200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr21:46382800-46385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr21:46382800-46385200	Weak transcription	Spleen	Spleen
50	chr21:46382800-46385400	Weak transcription	Adipose Nuclei	Adipose

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