Variant report

Variant	rs74101011
Chromosome Location	chr1:92329629-92329630
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	MAFK	chr1:92329476-92329796	HepG2	liver:	n/a	chr1:92329614-92329629 chr1:92329609-92329629 chr1:92329612-92329626 chr1:92329611-92329627
2	KAP1	chr1:92328957-92330455	U2OS	brain:	n/a	n/a
3	FOS	chr1:92329091-92330418	MCF10A-Er-Src	breast:	n/a	chr1:92329237-92329249
4	MAFF	chr1:92329556-92329639	K562	blood:	n/a	chr1:92329612-92329626 chr1:92329613-92329631
5	POLR2A	chr1:92329499-92330251	SK-N-MC	brain:	n/a	n/a
6	MAFK	chr1:92329505-92329971	IMR90	lung:	n/a	chr1:92329614-92329629 chr1:92329882-92329893 chr1:92329882-92329893 chr1:92329609-92329629 chr1:92329881-92329892 chr1:92329612-92329626 chr1:92329881-92329897 chr1:92329881-92329892 chr1:92329880-92329894 chr1:92329611-92329627
7	KAP1	chr1:92328827-92330368	HEK293	kidney:	n/a	n/a
8	FOS	chr1:92329135-92330389	MCF10A-Er-Src	breast:	n/a	chr1:92329237-92329249
9	STAT3	chr1:92329508-92330114	MCF10A-Er-Src	breast:	n/a	chr1:92330011-92330018
10	TCF7L2	chr1:92329593-92330020	PANC-1	pancreas:	n/a	n/a
11	MAFK	chr1:92329540-92329971	Hela-S3	cervix:	n/a	chr1:92329614-92329629 chr1:92329882-92329893 chr1:92329882-92329893 chr1:92329609-92329629 chr1:92329881-92329892 chr1:92329612-92329626 chr1:92329881-92329897 chr1:92329881-92329892 chr1:92329880-92329894 chr1:92329611-92329627
12	MAFK	chr1:92329455-92329896	HepG2	liver:	n/a	chr1:92329614-92329629 chr1:92329882-92329893 chr1:92329882-92329893 chr1:92329609-92329629 chr1:92329881-92329892 chr1:92329612-92329626 chr1:92329881-92329892 chr1:92329880-92329894 chr1:92329611-92329627
13	MAFF	chr1:92329557-92329802	HepG2	liver:	n/a	chr1:92329612-92329626 chr1:92329613-92329631
14	FOXP2	chr1:92329620-92330123	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92329344..92331517-chr1:92335405..92337042,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HFM1-3	chr1:92329396-92329836	NONHSAT004441

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56294980	1.00[AMR][1000 genomes]
rs60483196	0.95[AFR][1000 genomes]
rs72716484	0.81[AFR][1000 genomes]
rs74101025	0.95[AFR][1000 genomes]
rs7531392	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92296400-92335800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:92312000-92329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:92312000-92337200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:92315000-92329800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:92315200-92330200	Weak transcription	Spleen	Spleen
6	chr1:92317000-92330000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:92317400-92329800	Weak transcription	Fetal Kidney	kidney
8	chr1:92317400-92337200	Weak transcription	K562	blood
9	chr1:92317400-92338000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:92317400-92344400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:92317600-92335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:92318000-92336800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:92318000-92337000	Weak transcription	Small Intestine	intestine
14	chr1:92319800-92330000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:92320000-92338000	Weak transcription	Lung	lung
16	chr1:92321000-92329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:92321000-92329800	Weak transcription	Pancreas	Pancrea
18	chr1:92321000-92329800	Weak transcription	Psoas Muscle	Psoas
19	chr1:92321000-92332200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:92321000-92332800	Weak transcription	Right Ventricle	heart
21	chr1:92321800-92336800	Weak transcription	Right Atrium	heart
22	chr1:92323400-92330200	Weak transcription	Ovary	ovary
23	chr1:92325200-92335800	Weak transcription	Fetal Heart	heart
24	chr1:92325800-92329800	Weak transcription	GM12878-XiMat	blood
25	chr1:92326400-92335800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:92327200-92329800	Weak transcription	Liver	Liver
27	chr1:92327200-92335000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:92327800-92330000	Enhancers	Hela-S3	cervix
29	chr1:92327800-92330600	Enhancers	Adipose Nuclei	Adipose
30	chr1:92328000-92329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:92328400-92330800	Enhancers	HepG2	liver
32	chr1:92328600-92329800	Weak transcription	Fetal Thymus	thymus
33	chr1:92328600-92330600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:92328600-92332800	Weak transcription	Esophagus	oesophagus
35	chr1:92328800-92330000	Enhancers	Fetal Lung	lung
36	chr1:92329000-92329800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:92329000-92330400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:92329000-92330400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:92329200-92329800	Enhancers	NHDF-Ad	bronchial
40	chr1:92329200-92330400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:92329400-92330400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:92329400-92330400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:92329400-92330600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:92329400-92330800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:92329600-92329800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:92329600-92330000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:92329600-92330000	Flanking Active TSS	HMEC	breast
48	chr1:92329600-92330200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:92329600-92330200	Enhancers	Fetal Stomach	stomach
50	chr1:92329600-92330400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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