Variant report

Variant	rs12512621
Chromosome Location	chr4:99574964-99574965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12507322	1.00[CHB][hapmap]
rs12512460	0.82[ASN][1000 genomes]
rs17027889	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs1881449	1.00[JPT][hapmap]
rs4699359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966532	chr4:99571460-99581225	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99548000-99577000	Weak transcription	Esophagus	oesophagus
2	chr4:99564400-99575600	Weak transcription	Fetal Kidney	kidney
3	chr4:99566000-99575200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:99568400-99575000	Weak transcription	Thymus	Thymus
5	chr4:99569600-99578200	Weak transcription	Aorta	Aorta
6	chr4:99569600-99578400	Weak transcription	Spleen	Spleen
7	chr4:99570000-99576800	Weak transcription	Fetal Stomach	stomach
8	chr4:99570200-99577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:99570200-99577000	Weak transcription	Fetal Heart	heart
10	chr4:99572600-99578000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:99573000-99575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:99573600-99575200	Enhancers	HUVEC	blood vessel
13	chr4:99573600-99575600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:99573600-99576800	Enhancers	Brain Anterior Caudate	brain
15	chr4:99573800-99575000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:99573800-99575000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:99573800-99575000	Enhancers	Brain Hippocampus Middle	brain
18	chr4:99573800-99575000	Enhancers	HSMM	muscle
19	chr4:99573800-99575400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:99573800-99575800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:99573800-99575800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:99573800-99576600	Enhancers	Fetal Brain Male	brain
23	chr4:99573800-99576800	Enhancers	HMEC	breast
24	chr4:99573800-99577200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:99574000-99575000	Enhancers	Brain Substantia Nigra	brain
26	chr4:99574000-99575200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:99574000-99575400	Enhancers	Fetal Brain Female	brain
28	chr4:99574000-99575600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:99574000-99575800	Flanking Active TSS	Osteobl	bone
30	chr4:99574000-99576000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:99574000-99576400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:99574000-99577000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:99574200-99575000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:99574200-99575000	Enhancers	Brain Cingulate Gyrus	brain
35	chr4:99574200-99575800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:99574200-99576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:99574400-99575000	Enhancers	Ovary	ovary
38	chr4:99574400-99575600	Enhancers	HSMMtube	muscle
39	chr4:99574400-99575600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr4:99574400-99575800	Flanking Active TSS	NH-A	brain
41	chr4:99574400-99575800	Flanking Active TSS	NHLF	lung
42	chr4:99574400-99576600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:99574400-99576600	Enhancers	Brain Germinal Matrix	brain
44	chr4:99574600-99575000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:99574600-99575000	Enhancers	Brain Angular Gyrus	brain
46	chr4:99574600-99575200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:99574600-99575600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:99574600-99575600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:99574600-99577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:99574800-99575400	Enhancers	A549	lung

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