Variant report

Variant	rs17140280
Chromosome Location	chr3:120288107-120288108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120282278..120284804-chr3:120287050..120289696,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16831308	1.00[ASN][1000 genomes]
rs16831321	1.00[ASN][1000 genomes]
rs16831328	1.00[ASN][1000 genomes]
rs16831400	1.00[ASN][1000 genomes]
rs16831487	1.00[ASN][1000 genomes]
rs16831491	1.00[ASN][1000 genomes]
rs16831500	1.00[ASN][1000 genomes]
rs16831503	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140276	1.00[ASN][1000 genomes]
rs6770836	1.00[ASN][1000 genomes]
rs72960832	1.00[ASN][1000 genomes]
rs7633287	1.00[ASN][1000 genomes]
rs985190	1.00[ASN][1000 genomes]
rs9881574	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3404272	chr3:120274212-120294960	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 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	chr3:120282800-120291000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:120285000-120289200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:120285400-120288600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:120285400-120288600	Enhancers	Brain Hippocampus Middle	brain
5	chr3:120285400-120288600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:120285400-120288600	Enhancers	Brain Substantia Nigra	brain
7	chr3:120285400-120288800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:120285600-120288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:120285800-120288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:120286200-120288800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:120286400-120288800	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:120286600-120288400	Enhancers	HMEC	breast
13	chr3:120286600-120288600	Enhancers	K562	blood
14	chr3:120286800-120288200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:120286800-120288200	Enhancers	Brain Angular Gyrus	brain
16	chr3:120286800-120288400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:120286800-120288400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:120286800-120288400	Enhancers	Right Atrium	heart
19	chr3:120286800-120288400	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:120286800-120288600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:120286800-120288600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:120286800-120288600	Enhancers	Osteobl	bone
23	chr3:120286800-120288800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:120286800-120288800	Enhancers	Brain Anterior Caudate	brain
25	chr3:120287000-120288200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:120287000-120288200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:120287000-120288600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:120287000-120288800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:120287000-120290600	Weak transcription	Liver	Liver
30	chr3:120287200-120288200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:120287200-120288200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:120287200-120288600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:120287200-120288800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:120287200-120289000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:120287200-120290600	Weak transcription	Adipose Nuclei	Adipose
36	chr3:120287200-120291800	Weak transcription	Right Ventricle	heart
37	chr3:120287400-120288400	Weak transcription	Fetal Heart	heart
38	chr3:120287400-120288800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:120287400-120288800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:120287800-120288400	Enhancers	Esophagus	oesophagus
41	chr3:120287800-120288600	Enhancers	NH-A	brain
42	chr3:120288000-120288200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:120288000-120288400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:120288000-120288400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr3:120288000-120288400	Enhancers	Ovary	ovary
46	chr3:120288000-120288600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:120288000-120288600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:120288000-120288600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:120288000-120288600	Enhancers	Left Ventricle	heart

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