Variant report

Variant	rs8129901
Chromosome Location	chr21:44898326-44898327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr21:44897667-44898477	A549	lung:	n/a	chr21:44898220-44898233
2	HNF4A	chr21:44897781-44898328	HepG2	liver:	n/a	chr21:44898216-44898228 chr21:44898215-44898229
3	RAD21	chr21:44897778-44898334	HepG2	liver:	n/a	chr21:44898156-44898165
4	NR3C1	chr21:44897705-44898348	A549	lung:	n/a	chr21:44898220-44898233
5	MAX	chr21:44897165-44898529	A549	lung:	n/a	n/a
6	MXI1	chr21:44897679-44898418	HepG2	liver:	n/a	chr21:44898234-44898243
7	MAX	chr21:44897611-44898406	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr21:44897755-44898333	HUVEC	blood vessel:	n/a	chr21:44897901-44897911
9	SMC3	chr21:44897442-44898418	Hela-S3	cervix:	n/a	chr21:44897648-44897656
10	NR2F2	chr21:44897614-44898642	MCF-7	breast:	n/a	n/a
11	HNF4G	chr21:44897855-44898376	HepG2	liver:	n/a	chr21:44898216-44898228 chr21:44898215-44898229 chr21:44898329-44898337
12	RXRA	chr21:44897786-44898403	HepG2	liver:	n/a	chr21:44898215-44898228 chr21:44898215-44898228 chr21:44898214-44898230
13	TCF12	chr21:44897770-44898390	A549	lung:	n/a	n/a
14	MAZ	chr21:44897604-44898355	Hela-S3	cervix:	n/a	n/a
15	FOSL2	chr21:44897636-44898416	A549	lung:	n/a	chr21:44897884-44897893
16	MAX	chr21:44897234-44898511	HepG2	liver:	n/a	n/a
17	FOXP2	chr21:44897626-44898378	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr21:44896799-44899616	HUVEC	blood vessel:	n/a	n/a
19	CHD2	chr21:44897679-44898371	Hela-S3	cervix:	n/a	n/a
20	NR2F2	chr21:44897779-44898538	HepG2	liver:	n/a	n/a
21	SMARCC1	chr21:44897442-44898640	Hela-S3	cervix:	n/a	n/a
22	HNF4A	chr21:44897842-44898357	HepG2	liver:	n/a	chr21:44898216-44898228 chr21:44898215-44898229 chr21:44898329-44898337
23	POLR2A	chr21:44897628-44898350	HepG2	liver:	n/a	n/a
24	EP300	chr21:44897512-44898526	A549	lung:	n/a	chr21:44898142-44898155
25	MAX	chr21:44897210-44898457	A549	lung:	n/a	n/a
26	SP1	chr21:44897560-44898436	A549	lung:	n/a	chr21:44897888-44897897 chr21:44898192-44898206 chr21:44897886-44897898 chr21:44898193-44898202 chr21:44897886-44897898 chr21:44898191-44898203 chr21:44897887-44897896
27	FOS	chr21:44897687-44898374	HUVEC	blood vessel:	n/a	chr21:44897884-44897893
28	JUND	chr21:44897727-44898350	HepG2	liver:	n/a	chr21:44897884-44897893
29	GATA3	chr21:44897502-44898472	A549	lung:	n/a	chr21:44897901-44897911
30	MYBL2	chr21:44897696-44898399	HepG2	liver:	n/a	n/a
31	EP300	chr21:44897577-44898523	A549	lung:	n/a	chr21:44898142-44898155
32	MYC	chr21:44897699-44898369	HUVEC	blood vessel:	n/a	n/a
33	ELF1	chr21:44897686-44898439	MCF-7	breast:	n/a	n/a
34	NR3C1	chr21:44897684-44898459	A549	lung:	n/a	chr21:44898220-44898233
35	REST	chr21:44897644-44898392	A549	lung:	n/a	chr21:44897821-44897834 chr21:44897702-44897722 chr21:44898107-44898120
36	POLR2A	chr21:44896594-44898770	Hela-S3	cervix:	n/a	n/a
37	HCFC1	chr21:44897514-44898585	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr21:44897641-44898410	A549	lung:	n/a	n/a
39	RCOR1	chr21:44897676-44898341	HepG2	liver:	n/a	n/a
40	YY1	chr21:44897479-44898490	HepG2	liver:	n/a	chr21:44898191-44898202
41	POLR2A	chr21:44897574-44898344	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr21:44897605-44898343	Hela-S3	cervix:	n/a	n/a
43	GATA3	chr21:44897436-44898479	A549	lung:	n/a	chr21:44897901-44897911
44	POLR2A	chr21:44897661-44898482	HUVEC	blood vessel:	n/a	n/a
45	EP300	chr21:44897665-44898346	HepG2	liver:	n/a	chr21:44898142-44898155
46	SMARCB1	chr21:44897350-44898954	Hela-S3	cervix:	n/a	n/a
47	NR3C1	chr21:44897716-44898375	A549	lung:	n/a	chr21:44898220-44898233
48	SRF	chr21:44897612-44898372	MCF-7	breast:	n/a	chr21:44897639-44897649
49	SP1	chr21:44897704-44898380	HepG2	liver:	n/a	chr21:44897888-44897897 chr21:44898192-44898206 chr21:44897886-44897898 chr21:44898193-44898202 chr21:44897886-44897898 chr21:44898191-44898203 chr21:44897887-44897896
50	BCL3	chr21:44897545-44898363	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
2	chr21:44889384..44891678-chr21:44897069..44899514,2	MCF-7	breast:
3	chr21:44891072..44892849-chr21:44897824..44900238,2	MCF-7	breast:
4	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:

Variant related genes	Relation type
LINC00313	TF binding region
ENSG00000185186	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57139820	0.87[AMR][1000 genomes]
rs7281827	0.89[YRI][hapmap]
rs73906582	0.87[AMR][1000 genomes]
rs73906583	0.87[AMR][1000 genomes]
rs73906584	0.87[AMR][1000 genomes]
rs8132088	0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs9978346	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	98 gene(s)	inside rSNPs	diseases
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
14	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44892400-44902200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:44892600-44901600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44894600-44905400	Weak transcription	HSMMtube	muscle
4	chr21:44896200-44898600	Flanking Active TSS	Hela-S3	cervix
5	chr21:44896200-44899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:44896200-44900600	Enhancers	Fetal Muscle Leg	muscle
7	chr21:44896200-44900600	Enhancers	Right Ventricle	heart
8	chr21:44896200-44901400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:44896400-44899600	Enhancers	Fetal Stomach	stomach
10	chr21:44896400-44899800	Enhancers	Placenta	Placenta
11	chr21:44896400-44901200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr21:44896600-44898800	Enhancers	Pancreas	Pancrea
13	chr21:44896600-44899000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:44896800-44899000	Enhancers	Fetal Intestine Large	intestine
15	chr21:44897000-44898600	Flanking Active TSS	A549	lung
16	chr21:44897000-44898800	Enhancers	Fetal Intestine Small	intestine
17	chr21:44897000-44899000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:44897000-44899400	Enhancers	Stomach Mucosa	stomach
19	chr21:44897000-44900400	Enhancers	Left Ventricle	heart
20	chr21:44897200-44898600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:44897200-44898600	Enhancers	Fetal Thymus	thymus
22	chr21:44897200-44898600	Enhancers	Spleen	Spleen
23	chr21:44897200-44898800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr21:44897200-44898800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr21:44897200-44899000	Enhancers	Duodenum Mucosa	Duodenum
26	chr21:44897200-44899000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr21:44897200-44899200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:44897200-44899200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:44897200-44899400	Enhancers	NH-A	brain
30	chr21:44897200-44900200	Enhancers	HUVEC	blood vessel
31	chr21:44897200-44900400	Enhancers	Lung	lung
32	chr21:44897400-44898400	Enhancers	Osteobl	bone
33	chr21:44897400-44898600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:44897400-44898600	Enhancers	Small Intestine	intestine
35	chr21:44897400-44898800	Enhancers	Colonic Mucosa	Colon
36	chr21:44897400-44899000	Enhancers	Esophagus	oesophagus
37	chr21:44897400-44899000	Enhancers	Right Atrium	heart
38	chr21:44897400-44899200	Enhancers	Gastric	stomach
39	chr21:44897400-44899400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:44897600-44898400	Enhancers	GM12878-XiMat	blood
41	chr21:44897600-44898400	Flanking Active TSS	NHEK	skin
42	chr21:44897600-44898800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:44897600-44898800	Enhancers	Brain Anterior Caudate	brain
44	chr21:44897800-44899400	Enhancers	Liver	Liver
45	chr21:44897800-44900800	Enhancers	Adipose Nuclei	Adipose
46	chr21:44897800-44901000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr21:44898000-44899200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:44898000-44900000	Enhancers	Stomach Smooth Muscle	stomach
49	chr21:44898000-44905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:44898200-44898400	Flanking Active TSS	HMEC	breast

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