Variant report

Variant	rs12091936
Chromosome Location	chr1:113391858-113391859
allele	C/T
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	E2F6	chr1:113391825-113392891	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:113391854-113392710	HUVEC	blood vessel:	n/a	n/a
3	MYC	chr1:113391815-113392662	H1-hESC	embryonic stem cell:	n/a	chr1:113392093-113392104
4	MYC	chr1:113391787-113392506	MCF10A-Er-Src	breast:	n/a	chr1:113392093-113392104

Variant related genes	Relation type
ENSG00000224167	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11102547	1.00[AFR][1000 genomes]
rs11102551	0.84[AFR][1000 genomes]
rs12057664	1.00[AFR][1000 genomes]
rs12079508	1.00[AFR][1000 genomes]
rs12096230	0.84[AFR][1000 genomes]
rs6686851	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1000352	chr1:113350929-113405903	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1011519	chr1:113351374-113402040	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	esv3374684	chr1:113359959-113414316	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	esv3360645	chr1:113375959-113414652	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv522967	chr1:113384015-113400990	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113364200-113392000	Weak transcription	Right Atrium	heart
2	chr1:113369200-113392000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:113383800-113392000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:113384000-113392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:113384000-113392200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:113388000-113392000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113388600-113392000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:113388600-113392000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:113388600-113394600	Weak transcription	Hela-S3	cervix
10	chr1:113391200-113392000	Enhancers	Placenta	Placenta
11	chr1:113391800-113392000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:113391800-113392000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:113391800-113392000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:113391800-113392000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr1:113391800-113392000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr1:113391800-113392000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:113391800-113392000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:113391800-113392000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:113391800-113392000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:113391800-113392000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:113391800-113392000	Enhancers	Liver	Liver
22	chr1:113391800-113392000	Enhancers	Brain Anterior Caudate	brain
23	chr1:113391800-113392000	Enhancers	Brain Substantia Nigra	brain
24	chr1:113391800-113392000	Active TSS	Colonic Mucosa	Colon
25	chr1:113391800-113392000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:113391800-113392000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr1:113391800-113392000	Active TSS	Fetal Brain Female	brain
28	chr1:113391800-113392000	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr1:113391800-113392000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:113391800-113392000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr1:113391800-113392000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:113391800-113392000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr1:113391800-113392000	Active TSS	NH-A	brain
34	chr1:113391800-113392000	Active TSS	NHEK	skin
35	chr1:113391800-113392000	Enhancers	Osteobl	bone
36	chr1:113391800-113392200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:113391800-113392200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr1:113391800-113392200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:113391800-113392200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr1:113391800-113392600	Active TSS	Brain Germinal Matrix	brain
41	chr1:113391800-113392800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:113391800-113392800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:113391800-113393000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:113391800-113393000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:113391800-113393000	Active TSS	A549	lung
46	chr1:113391800-113393600	Flanking Active TSS	HUVEC	blood vessel
47	chr1:113391800-113393800	Enhancers	Fetal Brain Male	brain
48	chr1:113391800-113394200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:113391800-113394800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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