Variant report

Variant	rs12509107
Chromosome Location	chr4:99525686-99525687
allele	A/G
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:4)

rs_ID	r²[population]
rs12507322	1.00[CEU][hapmap]
rs17027847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17027851	0.86[CHB][hapmap]
rs846012	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap]

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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99522200-99532200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:99522400-99526600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:99522400-99528800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr4:99522600-99525800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:99522600-99526000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:99523000-99527200	Enhancers	Osteobl	bone
7	chr4:99523000-99545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:99523200-99526000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:99523400-99528400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:99523600-99525800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:99523600-99532200	Weak transcription	HMEC	breast
12	chr4:99523800-99527000	Weak transcription	Thymus	Thymus
13	chr4:99524000-99530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:99524000-99535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:99524200-99526800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:99524400-99529400	Weak transcription	Primary T cells from cord blood	blood
17	chr4:99524600-99525800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:99524600-99525800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:99524600-99526000	Flanking Active TSS	NH-A	brain
20	chr4:99524600-99527200	Enhancers	NHLF	lung
21	chr4:99524600-99529800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:99524800-99525800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:99524800-99525800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr4:99524800-99527000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:99525000-99525800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr4:99525000-99527000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:99525000-99527800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:99525000-99528000	Weak transcription	Fetal Thymus	thymus
29	chr4:99525200-99525800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:99525200-99525800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:99525200-99526400	Weak transcription	Ovary	ovary
32	chr4:99525200-99530200	Enhancers	Fetal Heart	heart
33	chr4:99525400-99525800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:99525400-99525800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:99525400-99525800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:99525400-99525800	Active TSS	Brain Anterior Caudate	brain
37	chr4:99525400-99526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:99525400-99526400	Weak transcription	HSMM	muscle
39	chr4:99525400-99527000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:99525400-99527000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:99525400-99527000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:99525400-99529400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:99525400-99529600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:99525400-99530400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:99525400-99531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:99525400-99533200	Weak transcription	Fetal Lung	lung
47	chr4:99525600-99525800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:99525600-99525800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:99525600-99525800	Enhancers	Brain Substantia Nigra	brain
50	chr4:99525600-99525800	Flanking Active TSS	Fetal Brain Female	brain

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