Variant report

Variant	rs11830639
Chromosome Location	chr12:31840254-31840255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31839479..31841877-chr12:31870440..31872048,2	MCF-7	breast:
2	chr12:31834148..31836795-chr12:31838829..31840863,2	K562	blood:
3	chr12:31833563..31835648-chr12:31839044..31840863,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11831623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833397	1.00[AMR][1000 genomes]
rs11833865	1.00[AMR][1000 genomes]
rs11834122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835928	1.00[AMR][1000 genomes]
rs35548973	1.00[AMR][1000 genomes]
rs55698487	1.00[AMR][1000 genomes]
rs55702366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55704003	1.00[AMR][1000 genomes]
rs55717538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55749071	1.00[AMR][1000 genomes]
rs56010814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122817	1.00[AMR][1000 genomes]
rs56131645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56348448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56410922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58644649	1.00[AMR][1000 genomes]
rs58672841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59530163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59834841	1.00[AMR][1000 genomes]
rs59956729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60374609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60557264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60663805	1.00[AMR][1000 genomes]
rs60680259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60942371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60971872	1.00[AMR][1000 genomes]
rs61373187	1.00[AMR][1000 genomes]
rs61398234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61593882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085127	1.00[AMR][1000 genomes]
rs74085129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085142	1.00[AMR][1000 genomes]
rs74085158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
2	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:31822400-31840600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
6	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31835400-31841800	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr12:31835600-31841600	Strong transcription	Thymus	Thymus
10	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
11	chr12:31835800-31854800	Weak transcription	K562	blood
12	chr12:31836000-31842600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:31836000-31857600	Weak transcription	A549	lung
14	chr12:31836200-31840800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr12:31836800-31842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:31836800-31850400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:31837200-31845800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:31837200-31846000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:31837200-31846000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:31837200-31846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:31837200-31850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:31837200-31850200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:31837200-31850200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:31837200-31850400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:31837200-31850400	Weak transcription	Adipose Nuclei	Adipose
27	chr12:31837200-31850400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
33	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:31837600-31840800	Weak transcription	Liver	Liver
35	chr12:31837800-31843200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:31837800-31846000	Weak transcription	Ovary	ovary
37	chr12:31838000-31844000	Strong transcription	Primary T cells from cord blood	blood
38	chr12:31838200-31842000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:31838400-31841200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:31838600-31841600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:31838800-31840600	Enhancers	GM12878-XiMat	blood
43	chr12:31838800-31841400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:31838800-31841400	Strong transcription	Brain Anterior Caudate	brain
45	chr12:31839200-31840600	Enhancers	Dnd41	blood
46	chr12:31839200-31840800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:31839400-31840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:31839400-31840400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:31839400-31841000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr12:31839400-31843600	Strong transcription	Fetal Brain Female	brain

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