Variant report

Variant	rs17027701
Chromosome Location	chr4:99477102-99477103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10030622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1881450	0.82[JPT][hapmap]
rs28618327	0.83[AMR][1000 genomes]
rs28784902	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4554081	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs4699347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4699351	0.87[AMR][1000 genomes]
rs4699649	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4699653	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4699655	0.85[AMR][1000 genomes]
rs6532743	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6824330	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7679987	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs7691924	0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8180171	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9991048	0.82[JPT][hapmap]
rs9993039	1.00[CEU][hapmap]

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	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
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
2	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:99466600-99479800	Weak transcription	Fetal Thymus	thymus
4	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:99468400-99482200	Weak transcription	Esophagus	oesophagus
6	chr4:99468800-99477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:99469000-99482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:99474000-99477400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:99474000-99477400	Weak transcription	HSMM	muscle
10	chr4:99475200-99482400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:99475400-99478200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:99475400-99481400	Enhancers	Brain Hippocampus Middle	brain
13	chr4:99475400-99482000	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:99475400-99482200	Enhancers	Brain Angular Gyrus	brain
15	chr4:99475600-99480600	Enhancers	Brain Germinal Matrix	brain
16	chr4:99475600-99481400	Enhancers	Brain Substantia Nigra	brain
17	chr4:99475800-99479200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:99475800-99479400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:99475800-99482200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:99476000-99477200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:99476000-99477400	Enhancers	Fetal Brain Male	brain
22	chr4:99476000-99477600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:99476000-99477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:99476000-99477800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:99476000-99477800	Enhancers	Brain Anterior Caudate	brain
26	chr4:99476000-99479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:99476000-99479200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:99476000-99479200	Enhancers	HUVEC	blood vessel
29	chr4:99476000-99479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:99476000-99479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:99476000-99479800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:99476000-99481200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:99476000-99482200	Enhancers	Fetal Brain Female	brain
34	chr4:99476200-99477400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:99476200-99477400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:99476200-99477400	Enhancers	Fetal Heart	heart
37	chr4:99476200-99477800	Enhancers	Ovary	ovary
38	chr4:99476200-99478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:99476200-99479200	Enhancers	Osteobl	bone
40	chr4:99476400-99477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:99476400-99478400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:99476600-99479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:99476800-99477400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:99476800-99477800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:99476800-99479200	Enhancers	NH-A	brain
46	chr4:99477000-99477200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:99477000-99477400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:99477000-99477400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:99477000-99477400	Enhancers	Lung	lung
50	chr4:99477000-99477400	Enhancers	HSMMtube	muscle

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