Variant report

Variant	rs12507322
Chromosome Location	chr4:99573304-99573305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12509107	1.00[CEU][hapmap]
rs12512621	1.00[CHB][hapmap]
rs17027639	1.00[ASW][hapmap]
rs17027847	1.00[CEU][hapmap]
rs17027889	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1881449	1.00[JPT][hapmap]
rs4699359	1.00[CHB][hapmap]
rs4699360	1.00[AFR][1000 genomes]

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	nsv594940	chr4:99542475-99573350	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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:43 , 50 per page) page: 1

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	chr4:99567600-99574200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:99567600-99574400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:99567600-99574800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:99568400-99575000	Weak transcription	Thymus	Thymus
8	chr4:99569600-99578200	Weak transcription	Aorta	Aorta
9	chr4:99569600-99578400	Weak transcription	Spleen	Spleen
10	chr4:99570000-99576800	Weak transcription	Fetal Stomach	stomach
11	chr4:99570200-99573800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:99570200-99573800	Weak transcription	Fetal Brain Male	brain
13	chr4:99570200-99577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:99570200-99577000	Weak transcription	Fetal Heart	heart
15	chr4:99570400-99573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:99570600-99573800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:99571000-99573600	Weak transcription	NH-A	brain
18	chr4:99571000-99574200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:99571200-99573600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:99571200-99574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:99571200-99574000	Weak transcription	Brain Substantia Nigra	brain
22	chr4:99571200-99574400	Weak transcription	Ovary	ovary
23	chr4:99571400-99573400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr4:99571600-99573400	Weak transcription	NHLF	lung
25	chr4:99571600-99573600	Weak transcription	Osteobl	bone
26	chr4:99571600-99574000	Weak transcription	Fetal Brain Female	brain
27	chr4:99571600-99574600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:99571800-99574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:99571800-99574000	Weak transcription	Brain Angular Gyrus	brain
30	chr4:99572000-99573600	Weak transcription	HUVEC	blood vessel
31	chr4:99572000-99573800	Weak transcription	HSMM	muscle
32	chr4:99572200-99573800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:99572400-99574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:99572600-99573800	Weak transcription	HMEC	breast
35	chr4:99572600-99578000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:99572800-99573400	Weak transcription	A549	lung
37	chr4:99572800-99573800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:99572800-99574200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:99573000-99575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:99573200-99573600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:99573200-99573800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:99573200-99573800	Enhancers	NHDF-Ad	bronchial
43	chr4:99573200-99574000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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