Variant report

Variant	rs829837
Chromosome Location	chr12:26121730-26121731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25985207..25987906-chr12:26120297..26122847,2	MCF-7	breast:
2	chr12:26110508..26112354-chr12:26121125..26124045,2	MCF-7	breast:
3	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
4	chr12:26113833..26115366-chr12:26119637..26121899,2	K562	blood:
5	chr12:26111412..26115023-chr12:26116224..26121847,6	MCF-7	breast:
6	chr12:26119397..26121989-chr12:26127514..26129240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction
ENSG00000256440	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10842643	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048372	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11048378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048379	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048380	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048381	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048382	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048383	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11048384	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048389	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048390	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1120064	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1149804	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11561207	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12227689	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812200	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812752	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12818478	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831248	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1691889	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16929784	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929817	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929830	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929846	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2055180	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2132317	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279680	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2343201	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2643941	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34294573	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34595529	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924984	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803009	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61622173	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6487525	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs706524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706526	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs706531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706538	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132590	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7134721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298162	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963603	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963856	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829987	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs853656	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:26113400-26128800	Weak transcription	HSMM	muscle
7	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:26114200-26125600	Weak transcription	HMEC	breast
13	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:26114600-26122200	Weak transcription	NH-A	brain
15	chr12:26114600-26122400	Weak transcription	Osteobl	bone
16	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
17	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
19	chr12:26116600-26124600	Weak transcription	NHLF	lung
20	chr12:26116800-26122600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:26116800-26123400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:26117000-26121800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:26117000-26121800	Weak transcription	Lung	lung
24	chr12:26117000-26121800	Weak transcription	Right Atrium	heart
25	chr12:26117000-26122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:26117000-26122800	Weak transcription	Spleen	Spleen
27	chr12:26117000-26123400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:26117200-26121800	Weak transcription	Brain Angular Gyrus	brain
30	chr12:26117200-26122000	Weak transcription	NHDF-Ad	bronchial
31	chr12:26117200-26122400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:26117200-26124000	Weak transcription	Fetal Stomach	stomach
33	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
34	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
36	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:26119200-26122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:26119600-26124400	Enhancers	Brain Hippocampus Middle	brain
39	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:26119800-26124400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:26120000-26122200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:26120000-26124000	Enhancers	Colon Smooth Muscle	Colon
43	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
44	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:26120200-26122600	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:26120200-26124600	Enhancers	Brain Substantia Nigra	brain
47	chr12:26120600-26122200	Enhancers	Pancreas	Pancrea
48	chr12:26120600-26125000	Enhancers	Ovary	ovary
49	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
50	chr12:26120800-26123600	Weak transcription	Right Ventricle	heart

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