Variant report

Variant	rs17415720
Chromosome Location	chr4:96103056-96103057
allele	A/G
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:4)

rs_ID	r²[population]
rs12502686	0.82[ASN][1000 genomes]
rs17415818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59169589	0.82[ASN][1000 genomes]
rs7682415	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:96087600-96107000	Weak transcription	A549	lung
3	chr4:96091000-96111600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:96091400-96109400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
6	chr4:96098800-96105200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:96099000-96105400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:96099400-96109400	Weak transcription	Dnd41	blood
9	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
10	chr4:96100600-96103400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:96101000-96104400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:96101200-96103400	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:96101200-96103600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:96101600-96103200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:96101600-96103200	Enhancers	Primary T cells from cord blood	blood
16	chr4:96101600-96103200	Genic enhancers	Brain Angular Gyrus	brain
17	chr4:96101600-96103600	Genic enhancers	Brain Substantia Nigra	brain
18	chr4:96101600-96104200	Enhancers	Fetal Thymus	thymus
19	chr4:96101600-96106600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:96101800-96103200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:96101800-96103200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:96101800-96103200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr4:96101800-96103400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:96101800-96104200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:96101800-96104200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:96101800-96104400	Strong transcription	Aorta	Aorta
27	chr4:96101800-96104800	Strong transcription	Fetal Stomach	stomach
28	chr4:96102000-96103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:96102000-96105800	Strong transcription	Fetal Lung	lung
30	chr4:96102200-96103200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:96102400-96103200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:96102400-96103200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:96102400-96103200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:96102400-96103400	Enhancers	HUVEC	blood vessel
35	chr4:96102400-96103400	Flanking Active TSS	NH-A	brain
36	chr4:96102400-96105200	Weak transcription	Brain Anterior Caudate	brain
37	chr4:96102600-96103200	Enhancers	Fetal Brain Female	brain
38	chr4:96102800-96103200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:96102800-96103200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr4:96102800-96103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:96102800-96103400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:96102800-96103400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:96102800-96103400	Enhancers	K562	blood
44	chr4:96102800-96103600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:96102800-96107600	Weak transcription	Brain Germinal Matrix	brain
46	chr4:96102800-96107800	Weak transcription	Spleen	Spleen
47	chr4:96102800-96110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:96103000-96103200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr4:96103000-96103400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr4:96103000-96103400	Genic enhancers	Brain Hippocampus Middle	brain

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