Variant report

Variant	rs6430931
Chromosome Location	chr2:127977550-127977551
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12463909	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465955	0.88[EUR][1000 genomes]
rs12469035	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12623948	0.81[EUR][1000 genomes]
rs1566822	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2174270	0.88[EUR][1000 genomes]
rs2896888	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35328149	0.81[EUR][1000 genomes]
rs3902960	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4150407	0.84[EUR][1000 genomes]
rs4560059	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4580338	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662710	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662711	0.81[EUR][1000 genomes]
rs4662712	0.81[EUR][1000 genomes]
rs4662717	0.86[EUR][1000 genomes]
rs55905117	0.81[EUR][1000 genomes]
rs58475809	0.86[EUR][1000 genomes]
rs6712213	0.81[EUR][1000 genomes]
rs6712446	0.81[EUR][1000 genomes]
rs6712551	0.81[EUR][1000 genomes]
rs71414745	0.82[EUR][1000 genomes]
rs7585198	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591760	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9636235	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9636236	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv961678	chr2:127961305-127979990	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription 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
10	esv3331416	chr2:127962771-127980988	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127975600-127977800	Enhancers	Lung	lung
2	chr2:127975600-127978200	Active TSS	NHEK	skin
3	chr2:127975600-127979000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:127975800-127978000	Active TSS	Esophagus	oesophagus
5	chr2:127975800-127978200	Active TSS	A549	lung
6	chr2:127975800-127978800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:127976000-127977800	Active TSS	NH-A	brain
8	chr2:127976000-127978800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:127976200-127977600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
10	chr2:127976200-127977600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:127976200-127977600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:127976200-127977600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:127976200-127977600	Bivalent/Poised TSS	Fetal Stomach	stomach
14	chr2:127976200-127978000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:127976200-127978000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr2:127976200-127978000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:127976200-127978000	Active TSS	Fetal Lung	lung
18	chr2:127976200-127978200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:127976200-127978200	Active TSS	Fetal Kidney	kidney
20	chr2:127976200-127978400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:127976200-127978400	Active TSS	Brain Substantia Nigra	brain
22	chr2:127976200-127978600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr2:127976200-127978800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:127976200-127979000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:127976400-127977600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr2:127976400-127977600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr2:127976400-127978000	Bivalent/Poised TSS	Small Intestine	intestine
28	chr2:127976400-127978000	Bivalent/Poised TSS	HepG2	liver
29	chr2:127976400-127978000	Active TSS	HSMM	muscle
30	chr2:127976400-127978000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr2:127976400-127978200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:127976400-127978400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:127976400-127978600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr2:127976400-127978800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:127976400-127978800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:127976600-127977800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:127976600-127978000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:127976600-127978200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:127976600-127978200	Active TSS	Brain Anterior Caudate	brain
40	chr2:127976600-127978400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:127976600-127978400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr2:127976800-127978000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:127976800-127978000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:127976800-127978000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr2:127976800-127978200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:127976800-127978200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:127976800-127978200	Active TSS	HSMMtube	muscle
48	chr2:127976800-127978800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:127976800-127978800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:127976800-127978800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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