Variant report

Variant	rs61914183
Chromosome Location	chr12:26113845-26113846
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	TCF7L2	chr12:26113640-26114691	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
3	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
4	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
6	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251

No.	Distal block	Cell Line	Cell type
1	chr12:26113833..26115366-chr12:26119637..26121899,2	K562	blood:
2	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
3	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8-AS1	TF binding region
ENSG00000256440	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16929805	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929850	0.92[EUR][1000 genomes]
rs2048608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58597112	0.91[EUR][1000 genomes]
rs59714345	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61914181	1.00[EUR][1000 genomes]
rs61914182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914187	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914211	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914212	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914216	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7963582	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7965337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:26110600-26114000	Active TSS	Right Atrium	heart
6	chr12:26110800-26114600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:26111000-26114200	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:26112800-26114200	Flanking Active TSS	Osteobl	bone
9	chr12:26112800-26116600	Weak transcription	Spleen	Spleen
10	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
11	chr12:26113000-26114000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr12:26113000-26114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:26113000-26114800	Enhancers	Fetal Heart	heart
14	chr12:26113000-26115200	Enhancers	Lung	lung
15	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:26113200-26114000	Flanking Active TSS	HMEC	breast
17	chr12:26113200-26114000	Flanking Active TSS	NHLF	lung
18	chr12:26113200-26114200	Flanking Active TSS	HUVEC	blood vessel
19	chr12:26113400-26114000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:26113400-26114000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:26113400-26114000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:26113400-26114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:26113400-26114000	Enhancers	Psoas Muscle	Psoas
24	chr12:26113400-26114200	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr12:26113400-26114200	Enhancers	NHEK	skin
26	chr12:26113400-26114600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:26113400-26114600	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:26113400-26114600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:26113400-26114800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:26113400-26114800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:26113400-26114800	Enhancers	Fetal Lung	lung
32	chr12:26113400-26115000	Enhancers	Aorta	Aorta
33	chr12:26113400-26115000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:26113400-26115200	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:26113400-26116400	Weak transcription	Esophagus	oesophagus
36	chr12:26113400-26116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:26113400-26117000	Enhancers	Brain Substantia Nigra	brain
38	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:26113400-26128800	Weak transcription	HSMM	muscle
44	chr12:26113600-26114000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:26113600-26114000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:26113600-26114000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:26113600-26114000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26113600-26114000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:26113600-26114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:26113600-26114200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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