Variant report

Variant	rs16869114
Chromosome Location	chr8:103121057-103121058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103105888..103108288-chr8:103119187..103121586,2	MCF-7	breast:
2	chr8:103111624..103115089-chr8:103119935..103122230,3	MCF-7	breast:
3	chr8:103119168..103122650-chr8:103122688..103124548,3	K562	blood:
4	chr8:103112507..103115331-chr8:103120087..103122301,2	K562	blood:
5	chr8:103120999..103123102-chr8:103127783..103130761,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16869115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869127	0.97[AFR][1000 genomes];1.00[AMR][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	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103114600-103121400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:103115800-103121400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:103116200-103121400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr8:103116400-103122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:103116400-103123600	Weak transcription	Fetal Brain Male	brain
6	chr8:103116800-103121400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:103117600-103121600	Enhancers	Fetal Heart	heart
8	chr8:103118800-103121400	Enhancers	Fetal Lung	lung
9	chr8:103118800-103121800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:103119200-103121400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:103119200-103121600	Enhancers	Primary T cells from cord blood	blood
12	chr8:103119200-103135200	Weak transcription	Spleen	Spleen
13	chr8:103119600-103121400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:103119800-103121200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:103119800-103121200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:103119800-103121200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:103119800-103121400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:103119800-103121400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:103119800-103121400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:103119800-103121400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:103120000-103121200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:103120000-103121400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:103120000-103121400	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:103120200-103121400	Enhancers	Stomach Mucosa	stomach
25	chr8:103120200-103121600	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:103120400-103121200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:103120400-103121200	Active TSS	Ovary	ovary
28	chr8:103120400-103121200	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:103120400-103121400	Active TSS	Aorta	Aorta
30	chr8:103120400-103121400	Active TSS	Right Atrium	heart
31	chr8:103120400-103123600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:103120400-103124400	Weak transcription	Gastric	stomach
33	chr8:103120400-103126200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:103120400-103126400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:103120400-103126800	Weak transcription	Esophagus	oesophagus
36	chr8:103120400-103129200	Weak transcription	Pancreas	Pancrea
37	chr8:103120400-103133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:103120400-103133400	Weak transcription	Fetal Brain Female	brain
39	chr8:103120400-103134200	Weak transcription	Lung	lung
40	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
41	chr8:103120600-103121200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:103120600-103121200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:103120600-103121200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:103120600-103121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:103120600-103125600	Weak transcription	Brain Angular Gyrus	brain
46	chr8:103120800-103121200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:103120800-103121200	Active TSS	Colon Smooth Muscle	Colon
48	chr8:103120800-103121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:103120800-103121400	Enhancers	Adipose Nuclei	Adipose
50	chr8:103120800-103121400	Active TSS	Psoas Muscle	Psoas

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