Variant report

Variant	rs9982197
Chromosome Location	chr21:46390069-46390070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46389938-46390239	K562	blood:	n/a	n/a
2	POLR2A	chr21:46389792-46390286	K562	blood:	n/a	n/a
3	CTCF	chr21:46390040-46390190	WERI-Rb-1	eye:	n/a	n/a
4	USF1	chr21:46389898-46390101	SK-N-SH_RA	brain:	n/a	n/a
5	CEBPB	chr21:46390050-46390373	IMR90	lung:	n/a	n/a
6	RAD21	chr21:46389916-46390284	IMR90	lung:	n/a	n/a
7	POLR2A	chr21:46389646-46391520	K562	blood:	n/a	n/a
8	CTCF	chr21:46389940-46390090	HCPEpiC	choroid plexus:	n/a	n/a
9	POLR2A	chr21:46389862-46390338	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:46389916-46390157	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr21:46389716-46390134	K562	blood:	n/a	n/a
12	POLR2A	chr21:46389691-46390194	IMR90	lung:	n/a	n/a
13	MAX	chr21:46389681-46390223	NB4	blood:	n/a	n/a
14	MYC	chr21:46389669-46390153	NB4	blood:	n/a	n/a
15	POLR2A	chr21:46389946-46390236	K562	blood:	n/a	n/a
16	MAZ	chr21:46389672-46390657	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
2	chr21:46389652..46391762-chr21:46403635..46406291,3	K562	blood:
3	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
4	chr21:46389436..46392310-chr21:46403984..46406454,4	MCF-7	breast:
5	chr21:46388301..46390286-chr21:46392364..46394204,2	MCF-7	breast:
6	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
7	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
8	chr21:46389981..46391498-chr21:46393886..46395996,2	MCF-7	breast:
9	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:
10	chr21:46359964..46363434-chr21:46389610..46392494,4	K562	blood:
11	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:

No data

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28506874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675200	1.00[AMR][1000 genomes]
rs9974777	1.00[AMR][1000 genomes]
rs9976000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9979407	1.00[AMR][1000 genomes]
rs9979643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981956	1.00[AMR][1000 genomes]
rs9982073	1.00[AMR][1000 genomes]
rs9982208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982213	1.00[AMR][1000 genomes]
rs9982344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982416	1.00[AMR][1000 genomes]
rs9982593	1.00[AMR][1000 genomes]
rs9984679	0.86[AFR][1000 genomes];1.00[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46364200-46391400	Strong transcription	Dnd41	blood
2	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
4	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
5	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
6	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:46383600-46390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr21:46384200-46391200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:46384200-46391400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
11	chr21:46384800-46390600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
14	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
15	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:46386200-46391200	Genic enhancers	Fetal Stomach	stomach
19	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
20	chr21:46386400-46392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr21:46386600-46391200	Genic enhancers	Lung	lung
23	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
24	chr21:46387000-46390200	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr21:46387000-46391200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:46387200-46390200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr21:46387200-46390200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr21:46387200-46390200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:46387200-46390400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:46387200-46390400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr21:46387200-46391000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46387400-46390200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr21:46387400-46390200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr21:46387400-46391000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:46387400-46391000	Genic enhancers	Placenta	Placenta
36	chr21:46387400-46391000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr21:46387600-46390200	Genic enhancers	Adipose Nuclei	Adipose
38	chr21:46387600-46390200	Strong transcription	GM12878-XiMat	blood
39	chr21:46387600-46390400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr21:46387600-46390400	Strong transcription	Fetal Intestine Large	intestine
41	chr21:46387600-46391000	Strong transcription	Brain Germinal Matrix	brain
42	chr21:46387600-46391200	Weak transcription	Fetal Brain Male	brain
43	chr21:46387600-46396000	Strong transcription	Pancreas	Pancrea
44	chr21:46387800-46390800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr21:46387800-46391000	Enhancers	Primary hematopoietic stem cells	blood
46	chr21:46387800-46391000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr21:46387800-46392600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:46388200-46390200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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