Variant report

Variant	rs1992607
Chromosome Location	chr12:41086635-41086636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506173	1.00[ASN][1000 genomes]
rs10784813	1.00[ASN][1000 genomes]
rs1348509	1.00[ASN][1000 genomes]
rs1373424	1.00[ASN][1000 genomes]
rs1444203	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1444204	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1584093	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];1.00[ASN][1000 genomes]
rs17128385	1.00[ASN][1000 genomes]
rs17128536	1.00[ASN][1000 genomes]
rs17128689	1.00[ASN][1000 genomes]
rs1816856	1.00[ASN][1000 genomes]
rs1867430	1.00[ASN][1000 genomes]
rs2120599	1.00[ASN][1000 genomes]
rs2405018	1.00[ASN][1000 genomes]
rs4275691	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs55635729	1.00[ASN][1000 genomes]
rs55736346	1.00[ASN][1000 genomes]
rs55775102	1.00[ASN][1000 genomes]
rs55786396	1.00[ASN][1000 genomes]
rs56032335	1.00[ASN][1000 genomes]
rs56245194	1.00[ASN][1000 genomes]
rs56322620	1.00[ASN][1000 genomes]
rs56334222	1.00[ASN][1000 genomes]
rs56383533	1.00[ASN][1000 genomes]
rs57772297	1.00[ASN][1000 genomes]
rs57816451	1.00[ASN][1000 genomes]
rs59066229	1.00[ASN][1000 genomes]
rs6581906	1.00[ASN][1000 genomes]
rs7137967	1.00[ASN][1000 genomes]
rs7138084	1.00[ASN][1000 genomes]
rs73110075	1.00[ASN][1000 genomes]
rs73110852	1.00[ASN][1000 genomes]
rs73110883	1.00[ASN][1000 genomes]
rs73115378	1.00[ASN][1000 genomes]
rs73115394	1.00[ASN][1000 genomes]
rs73115401	1.00[ASN][1000 genomes]
rs73117512	1.00[ASN][1000 genomes]
rs73119913	1.00[ASN][1000 genomes]
rs73123118	1.00[ASN][1000 genomes]
rs73123119	1.00[ASN][1000 genomes]
rs73123140	1.00[ASN][1000 genomes]
rs7314530	1.00[ASN][1000 genomes]
rs74076704	1.00[ASN][1000 genomes]
rs74078532	1.00[ASN][1000 genomes]
rs74078558	1.00[ASN][1000 genomes]
rs74078563	1.00[ASN][1000 genomes]
rs74078569	1.00[ASN][1000 genomes]
rs74078570	1.00[ASN][1000 genomes]
rs7484715	1.00[ASN][1000 genomes]
rs7959703	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7977934	1.00[ASN][1000 genomes]
rs935230	0.83[CEU][hapmap]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats 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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41085400-41086800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:41085400-41086800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:41085400-41087200	Active TSS	Brain Angular Gyrus	brain
4	chr12:41085600-41086800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr12:41085600-41087000	Active TSS	Fetal Brain Female	brain
6	chr12:41085600-41087600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:41085600-41087600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
8	chr12:41085600-41087600	Active TSS	Colon Smooth Muscle	Colon
9	chr12:41085600-41087600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:41085600-41087600	Active TSS	NHDF-Ad	bronchial
11	chr12:41085600-41087800	Bivalent/Poised TSS	Fetal Lung	lung
12	chr12:41085600-41088000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:41085600-41088000	Active TSS	Fetal Brain Male	brain
14	chr12:41085600-41088400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:41085800-41086800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:41085800-41086800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:41085800-41087000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:41085800-41087000	Active TSS	Ovary	ovary
19	chr12:41085800-41087000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr12:41085800-41087200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:41085800-41087200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr12:41085800-41087200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr12:41085800-41087400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:41085800-41087400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:41085800-41087400	Active TSS	Aorta	Aorta
26	chr12:41085800-41087400	Enhancers	Fetal Heart	heart
27	chr12:41085800-41087400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr12:41085800-41087400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
29	chr12:41085800-41087400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr12:41085800-41087600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:41085800-41087600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:41085800-41087600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:41085800-41087600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:41085800-41087600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr12:41085800-41087800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:41085800-41087800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:41085800-41087800	Active TSS	Fetal Kidney	kidney
38	chr12:41085800-41087800	Active TSS	A549	lung
39	chr12:41085800-41088000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:41085800-41088000	Active TSS	Brain Anterior Caudate	brain
41	chr12:41086000-41086800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr12:41086000-41086800	Bivalent/Poised TSS	Esophagus	oesophagus
43	chr12:41086000-41087000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:41086000-41087000	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr12:41086000-41087000	Active TSS	Gastric	stomach
46	chr12:41086000-41087000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
47	chr12:41086000-41087000	Active TSS	Right Atrium	heart
48	chr12:41086000-41087200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:41086000-41087200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:41086000-41087200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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