Variant report

Variant	rs16840827
Chromosome Location	chr2:209141066-209141067
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209135135..209138547-chr2:209139841..209142667,3	MCF-7	breast:
2	chr2:209133926..209135524-chr2:209139403..209141447,2	MCF-7	breast:
3	chr2:209133841..209135809-chr2:209138759..209141386,3	K562	blood:
4	chr2:209129737..209132696-chr2:209139386..209142968,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138413	Chromatin interaction
ENSG00000115020	Chromatin interaction
ENSG00000228380	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16840819	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840877	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2164724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290590	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
3	chr2:209132800-209141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:209132800-209142200	Weak transcription	Colonic Mucosa	Colon
5	chr2:209132800-209145000	Weak transcription	Gastric	stomach
6	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
7	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:209133000-209141400	Weak transcription	Fetal Heart	heart
9	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:209133800-209141400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:209134000-209142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:209134400-209143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:209134400-209143200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:209134600-209143200	Weak transcription	Psoas Muscle	Psoas
15	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:209134800-209146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:209135000-209143200	Strong transcription	Primary B cells from cord blood	blood
18	chr2:209135200-209148800	Strong transcription	Dnd41	blood
19	chr2:209135800-209143400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:209136000-209142200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:209136000-209142200	Strong transcription	GM12878-XiMat	blood
24	chr2:209136000-209143200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:209136000-209143400	Strong transcription	NH-A	brain
26	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:209136200-209143600	Strong transcription	HUVEC	blood vessel
32	chr2:209136200-209144000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:209136200-209145000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:209136200-209145200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:209136200-209145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:209136200-209146600	Strong transcription	Brain Anterior Caudate	brain
37	chr2:209136200-209148200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:209136200-209148200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:209136200-209148400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:209136200-209148400	Strong transcription	Adipose Nuclei	Adipose
41	chr2:209136200-209148400	Strong transcription	Placenta	Placenta
42	chr2:209136200-209148600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:209136200-209148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:209136200-209148600	Strong transcription	Liver	Liver
45	chr2:209136200-209148600	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:209136200-209148600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:209136200-209148800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:209136200-209149000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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