Variant report

Variant	rs73077123
Chromosome Location	chr12:26132622-26132623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26108836..26112964-chr12:26130309..26134148,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10219479	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048395	0.84[EUR][1000 genomes]
rs11048396	0.84[EUR][1000 genomes]
rs12300961	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304275	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308128	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12314388	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929960	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17354107	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354478	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361182	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361755	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17362314	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17362453	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17362593	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362614	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362901	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17458637	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459432	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17459771	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17459910	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17460800	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996091	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963645	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4963944	0.83[EUR][1000 genomes]
rs4963945	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963948	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963949	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963950	0.82[ASN][1000 genomes]
rs55965624	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56051193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228589	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369291	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56399330	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58178281	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73074880	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074882	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077109	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077138	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077155	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077158	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079015	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079022	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73079027	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079032	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079055	0.86[AMR][1000 genomes]
rs73079059	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7486150	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv433521	chr12:26127230-26132785	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv517117	chr12:26127230-26133925	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:26123800-26134200	Weak transcription	Gastric	stomach
4	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
7	chr12:26126800-26134000	Weak transcription	Aorta	Aorta
8	chr12:26128200-26133000	Enhancers	Left Ventricle	heart
9	chr12:26129400-26134000	Weak transcription	Spleen	Spleen
10	chr12:26129400-26134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
12	chr12:26129600-26133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:26129600-26134000	Weak transcription	Esophagus	oesophagus
14	chr12:26129800-26133000	Enhancers	Ovary	ovary
15	chr12:26129800-26134400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
17	chr12:26130000-26133200	Enhancers	Brain Anterior Caudate	brain
18	chr12:26130200-26132800	Enhancers	Brain Hippocampus Middle	brain
19	chr12:26130200-26132800	Enhancers	Brain Substantia Nigra	brain
20	chr12:26130400-26132800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:26130400-26133000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:26130800-26132800	Enhancers	Psoas Muscle	Psoas
23	chr12:26130800-26133600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:26130800-26134200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:26131000-26145400	Weak transcription	Lung	lung
28	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:26131000-26146200	Weak transcription	HSMM	muscle
30	chr12:26131200-26137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:26131600-26132800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr12:26131600-26133000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:26131600-26133000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:26131600-26133000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:26131600-26133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:26131600-26133200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:26131800-26132800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:26131800-26132800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:26131800-26132800	Enhancers	Fetal Lung	lung
40	chr12:26131800-26133000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:26131800-26133000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:26131800-26133000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:26131800-26133000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:26131800-26133200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:26131800-26134400	Enhancers	NHDF-Ad	bronchial
46	chr12:26132000-26133000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:26132000-26133200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:26132000-26133200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:26132200-26132800	Enhancers	NHLF	lung
50	chr12:26132200-26133000	Enhancers	H1 Cell Line	embryonic stem cell

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