Variant report

Variant	rs16840819
Chromosome Location	chr2:209138634-209138635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209130991..209132638-chr2:209137435..209139595,2	MCF-7	breast:
2	chr2:209130296..209134891-chr2:209135687..209138671,7	K562	blood:
3	chr2:209133235..209135451-chr2:209137716..209139373,2	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16840827	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:5 , 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

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	chr2:209132800-209140800	Weak transcription	Fetal Kidney	kidney
4	chr2:209132800-209141000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:209132800-209141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:209132800-209142200	Weak transcription	Colonic Mucosa	Colon
7	chr2:209132800-209145000	Weak transcription	Gastric	stomach
8	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
9	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:209133000-209138800	Weak transcription	Hela-S3	cervix
11	chr2:209133000-209138800	Weak transcription	NHEK	skin
12	chr2:209133000-209141400	Weak transcription	Fetal Heart	heart
13	chr2:209133200-209140800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:209133200-209141000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:209133800-209141400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:209134000-209142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:209134200-209140600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:209134400-209138800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:209134400-209138800	Weak transcription	Small Intestine	intestine
21	chr2:209134400-209143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:209134400-209143200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:209134600-209139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:209134600-209140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:209134600-209143200	Weak transcription	Psoas Muscle	Psoas
26	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:209134800-209138800	Weak transcription	Ovary	ovary
28	chr2:209134800-209146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:209135000-209143200	Strong transcription	Primary B cells from cord blood	blood
30	chr2:209135200-209148800	Strong transcription	Dnd41	blood
31	chr2:209135800-209143400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:209136000-209138800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:209136000-209142200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:209136000-209142200	Strong transcription	GM12878-XiMat	blood
37	chr2:209136000-209143200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:209136000-209143400	Strong transcription	NH-A	brain
39	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:209136200-209139000	Strong transcription	Fetal Thymus	thymus
45	chr2:209136200-209139200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:209136200-209139400	Strong transcription	Osteobl	bone
47	chr2:209136200-209143600	Strong transcription	HUVEC	blood vessel
48	chr2:209136200-209144000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:209136200-209145000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:209136200-209145200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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