Variant report

Variant	rs1428968
Chromosome Location	chr5:36646946-36646947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1428967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17368211	0.82[ASW][hapmap]
rs3756467	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3776565	0.82[ASW][hapmap];0.81[MEX][hapmap]
rs3776573	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3776576	0.81[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822469	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs745428	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs745429	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
2	chr5:36631000-36654400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:36632200-36654800	Weak transcription	Fetal Brain Female	brain
4	chr5:36632600-36651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:36632600-36654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:36634000-36652200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:36635600-36654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:36635800-36652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:36637200-36655200	Weak transcription	Hela-S3	cervix
10	chr5:36637400-36654600	Weak transcription	Left Ventricle	heart
11	chr5:36637800-36648400	Enhancers	Fetal Heart	heart
12	chr5:36638600-36652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:36638600-36652200	Weak transcription	NHEK	skin
14	chr5:36638600-36654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:36638800-36654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:36639400-36650200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:36639600-36651800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:36639800-36651400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:36639800-36656400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:36640400-36651200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:36640800-36650000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:36641600-36649800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:36642200-36649600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:36645200-36649400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:36645200-36653000	Weak transcription	Right Ventricle	heart
26	chr5:36645200-36654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:36645600-36648600	Weak transcription	Fetal Intestine Large	intestine
28	chr5:36646000-36647200	Enhancers	HSMMtube	muscle
29	chr5:36646000-36647800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:36646200-36647000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:36646200-36647000	Enhancers	NHDF-Ad	bronchial
32	chr5:36646200-36647200	Enhancers	Fetal Lung	lung
33	chr5:36646200-36647400	Enhancers	NH-A	brain
34	chr5:36646200-36647800	Enhancers	Osteobl	bone
35	chr5:36646600-36647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:36646600-36647000	Enhancers	Placenta	Placenta
37	chr5:36646600-36647200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:36646600-36647200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr5:36646600-36647400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:36646600-36647400	Enhancers	Brain Angular Gyrus	brain
41	chr5:36646600-36647600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:36646600-36647800	Enhancers	Brain Substantia Nigra	brain
43	chr5:36646600-36648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:36646800-36647600	Enhancers	HSMM	muscle
45	chr5:36646800-36650600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:36646800-36651800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:36646800-36654600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:36646800-36654600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:36646800-36655600	Weak transcription	Muscle Satellite Cultured Cells	--

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