Variant report

Variant	rs829987
Chromosome Location	chr12:26116180-26116181
allele	A/T
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	chr12:26115885-26116190	PANC-1	pancreas:	n/a	chr12:26116032-26116046 chr12:26116031-26116047 chr12:26116033-26116043 chr12:26116031-26116047 chr12:26116035-26116044 chr12:26116034-26116043

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26115121..26117506-chr12:26161572..26164104,2	MCF-7	breast:
2	chr12:26112648..26115611-chr12:26116052..26117767,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8-AS1	TF binding region
ENSG00000246695	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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048360	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048372	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11048378	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048380	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048381	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11048382	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048383	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11048384	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048389	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048390	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1120064	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1149804	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11561207	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12227689	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12812200	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812752	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813641	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12818478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12831248	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1691889	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929784	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929817	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929830	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929846	0.97[ASN][1000 genomes]
rs2055180	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2132317	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279680	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2343201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2643941	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34294573	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34595529	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35924984	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803009	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61622173	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6487525	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs706524	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706526	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs706531	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706532	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706533	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706538	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7132590	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134721	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298162	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953171	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963603	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963856	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829837	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs853656	0.90[AMR][1000 genomes];0.99[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26112800-26116600	Weak transcription	Spleen	Spleen
2	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
3	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:26113400-26116400	Weak transcription	Esophagus	oesophagus
5	chr12:26113400-26116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:26113400-26117000	Enhancers	Brain Substantia Nigra	brain
7	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:26113400-26128800	Weak transcription	HSMM	muscle
13	chr12:26113600-26116400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:26113600-26118200	Weak transcription	HSMMtube	muscle
15	chr12:26113800-26116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:26113800-26116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:26113800-26116400	Weak transcription	Ovary	ovary
18	chr12:26113800-26116600	Weak transcription	Fetal Stomach	stomach
19	chr12:26113800-26120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:26114000-26116400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:26114000-26116400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:26114000-26117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:26114200-26117200	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:26114200-26117600	Enhancers	Colon Smooth Muscle	Colon
30	chr12:26114200-26125600	Weak transcription	HMEC	breast
31	chr12:26114400-26116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:26114600-26116400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:26114600-26116400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:26114600-26116600	Weak transcription	Psoas Muscle	Psoas
36	chr12:26114600-26117400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:26114600-26122200	Weak transcription	NH-A	brain
38	chr12:26114600-26122400	Weak transcription	Osteobl	bone
39	chr12:26114800-26116400	Weak transcription	Fetal Heart	heart
40	chr12:26114800-26116800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:26114800-26117200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
43	chr12:26115000-26116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:26115000-26116200	Weak transcription	Aorta	Aorta
45	chr12:26115000-26116400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:26115000-26119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
49	chr12:26115200-26116200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:26115200-26116400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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