Variant report

Variant	rs56169892
Chromosome Location	chr12:26128975-26128976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26111468..26113195-chr12:26128307..26131046,2	MCF-7	breast:
2	chr12:26119397..26121989-chr12:26127514..26129240,2	MCF-7	breast:
3	chr12:26125186..26126753-chr12:26127766..26129888,2	K562	blood:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	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	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048395	0.82[EUR][1000 genomes]
rs11048396	0.82[EUR][1000 genomes]
rs12300961	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304275	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308128	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12314388	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929960	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17354107	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361182	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361755	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17362314	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17362453	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17362593	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362614	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362901	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17458637	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459432	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17459771	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17459910	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17460800	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996091	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963645	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4963944	0.81[EUR][1000 genomes]
rs4963945	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963948	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963949	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963950	0.82[ASN][1000 genomes]
rs55965624	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56051193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369291	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56399330	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58178281	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73074880	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074882	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077109	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077138	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077155	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077158	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079015	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73079022	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73079027	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73079032	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73079036	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73079055	0.86[AMR][1000 genomes]
rs73079059	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7486150	0.91[AMR][1000 genomes];0.82[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
2	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
3	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:26123800-26134200	Weak transcription	Gastric	stomach
12	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
16	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
17	chr12:26125000-26129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:26125000-26130800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
20	chr12:26125800-26129000	Enhancers	Brain Hippocampus Middle	brain
21	chr12:26125800-26129600	Enhancers	Right Atrium	heart
22	chr12:26126400-26129200	Weak transcription	NHLF	lung
23	chr12:26126400-26132200	Weak transcription	HMEC	breast
24	chr12:26126600-26129000	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:26126800-26131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:26126800-26134000	Weak transcription	Aorta	Aorta
27	chr12:26127000-26129800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:26127000-26132000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:26127200-26130000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:26127200-26131800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:26127200-26132200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:26127400-26131600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:26127400-26131800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:26127400-26131800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:26127600-26129000	Enhancers	Brain Anterior Caudate	brain
36	chr12:26127600-26129200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:26127600-26129400	Enhancers	Right Ventricle	heart
38	chr12:26127800-26129000	Enhancers	Brain Substantia Nigra	brain
39	chr12:26127800-26129400	Enhancers	Psoas Muscle	Psoas
40	chr12:26127800-26131600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:26128000-26129000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:26128000-26129000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:26128000-26129000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:26128000-26132400	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:26128200-26129000	Weak transcription	Osteobl	bone
46	chr12:26128200-26129200	Weak transcription	NH-A	brain
47	chr12:26128200-26131600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:26128200-26131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:26128200-26133000	Enhancers	Left Ventricle	heart
50	chr12:26128400-26129600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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