Variant report

Variant	rs73077109
Chromosome Location	chr12:26125583-26125584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26111209..26114170-chr12:26124306..26125850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219479	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048395	0.84[EUR][1000 genomes]
rs11048396	0.84[EUR][1000 genomes]
rs12300961	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304275	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308128	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12314388	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929960	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17354107	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354204	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354478	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361182	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361755	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17362314	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17362453	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17362593	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362614	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362901	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17458637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459432	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17459771	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17459910	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17460800	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996091	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963645	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4963944	0.83[EUR][1000 genomes]
rs4963945	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963948	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963949	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963950	0.82[ASN][1000 genomes]
rs55965624	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56051193	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169892	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228589	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369291	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56399330	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58178281	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73074880	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074882	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074895	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077123	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077138	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077155	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077158	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079015	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079022	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73079027	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079032	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079036	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73079055	0.83[AMR][1000 genomes]
rs73079059	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7486150	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26113400-26128800	Weak transcription	HSMM	muscle
3	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26114200-26125600	Weak transcription	HMEC	breast
6	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
7	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
9	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
11	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:26122400-26126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:26122400-26128200	Enhancers	Osteobl	bone
20	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
25	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:26123800-26134200	Weak transcription	Gastric	stomach
29	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:26124000-26125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:26124000-26126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:26124200-26126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:26124400-26125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:26124400-26125800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:26124400-26126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:26124400-26126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:26124400-26126200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:26124400-26126200	Weak transcription	Right Ventricle	heart
40	chr12:26124400-26126600	Weak transcription	Lung	lung
41	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
42	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
43	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
44	chr12:26124600-26125800	Weak transcription	Brain Substantia Nigra	brain
45	chr12:26124600-26126200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:26124600-26126400	Enhancers	NHLF	lung
47	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
48	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
50	chr12:26125000-26125600	Weak transcription	NH-A	brain

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