Variant report

Variant	rs16831503
Chromosome Location	chr3:120286574-120286575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120285088..120287233-chr3:120289069..120290878,2	K562	blood:
2	chr3:120285518..120287941-chr3:120460010..120462833,2	MCF-7	breast:
3	chr3:120137474..120137985-chr3:120286289..120287018,2	MCF-7	breast:
4	chr3:120286252..120286774-chr3:120513818..120514517,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144840	Chromatin interaction
ENSG00000153767	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

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]
rs17140276	1.00[ASN][1000 genomes]
rs17140280	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319827	1.00[CHB][hapmap]
rs4676817	1.00[CHB][hapmap]
rs4676818	1.00[CHB][hapmap]
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:8 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120278800-120286800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:120279800-120287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:120279800-120288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:120280000-120286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:120282800-120291000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:120285000-120287400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:120285000-120289200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:120285400-120286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:120285400-120287000	Enhancers	Brain Germinal Matrix	brain
10	chr3:120285400-120287000	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:120285400-120287200	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:120285400-120288600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:120285400-120288600	Enhancers	Brain Hippocampus Middle	brain
14	chr3:120285400-120288600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:120285400-120288600	Enhancers	Brain Substantia Nigra	brain
16	chr3:120285400-120288800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:120285600-120286800	Enhancers	Fetal Lung	lung
18	chr3:120285600-120287200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:120285600-120288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:120285800-120286800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:120285800-120287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:120285800-120287000	Enhancers	Fetal Stomach	stomach
23	chr3:120285800-120288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:120286000-120287000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:120286000-120287000	Enhancers	Stomach Mucosa	stomach
26	chr3:120286200-120286600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:120286200-120286600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:120286200-120286600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:120286200-120286600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr3:120286200-120286600	Weak transcription	K562	blood
31	chr3:120286200-120286800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:120286200-120286800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:120286200-120286800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:120286200-120286800	Active TSS	Ovary	ovary
35	chr3:120286200-120286800	Flanking Active TSS	Hela-S3	cervix
36	chr3:120286200-120286800	Enhancers	HepG2	liver
37	chr3:120286200-120286800	Flanking Active TSS	Osteobl	bone
38	chr3:120286200-120287200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:120286200-120287400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:120286200-120287400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:120286200-120287400	Enhancers	Fetal Heart	heart
42	chr3:120286200-120287800	Enhancers	Psoas Muscle	Psoas
43	chr3:120286200-120288800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:120286400-120286600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:120286400-120286600	Enhancers	Fetal Brain Female	brain
46	chr3:120286400-120286600	Enhancers	Left Ventricle	heart
47	chr3:120286400-120286600	Active TSS	NH-A	brain
48	chr3:120286400-120286800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:120286400-120286800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:120286400-120286800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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