Variant report

Variant	rs8049865
Chromosome Location	chr16:30706766-30706767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30702240..30706910-chr16:30707972..30711659,5	MCF-7	breast:
2	chr16:30669592..30672467-chr16:30705353..30707283,2	K562	blood:
3	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
4	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
5	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
6	chr16:30661362..30662904-chr16:30705085..30706810,2	MCF-7	breast:
7	chr16:30703961..30707044-chr16:30751881..30755239,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000156860	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7187691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046436	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30703600-30706800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:30703800-30707000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr16:30703800-30708600	Weak transcription	Fetal Heart	heart
4	chr16:30703800-30708600	Weak transcription	Fetal Intestine Large	intestine
5	chr16:30704600-30707000	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:30705200-30707000	Enhancers	Spleen	Spleen
7	chr16:30705400-30708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:30705400-30708400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:30705400-30708600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:30705400-30708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:30705400-30708600	Weak transcription	Liver	Liver
12	chr16:30705400-30708600	Weak transcription	Brain Angular Gyrus	brain
13	chr16:30705400-30708600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:30705400-30708600	Weak transcription	Brain Substantia Nigra	brain
15	chr16:30705400-30708600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:30705400-30708600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr16:30705400-30708600	Weak transcription	Fetal Intestine Small	intestine
18	chr16:30705400-30708600	Weak transcription	Fetal Kidney	kidney
19	chr16:30705400-30708600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr16:30705400-30708600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:30705400-30708600	Weak transcription	A549	lung
22	chr16:30705400-30708600	Weak transcription	Hela-S3	cervix
23	chr16:30705400-30708600	Weak transcription	NHDF-Ad	bronchial
24	chr16:30705400-30708600	Weak transcription	Osteobl	bone
25	chr16:30705400-30708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:30705400-30708800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:30705400-30708800	Weak transcription	Lung	lung
28	chr16:30705400-30708800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:30705400-30709000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:30705400-30709200	Weak transcription	Esophagus	oesophagus
31	chr16:30705600-30706800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:30705600-30708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:30705600-30708600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:30705600-30708600	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:30705600-30708600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:30705600-30708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:30705600-30708600	Weak transcription	Stomach Mucosa	stomach
38	chr16:30705600-30708600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:30705600-30708600	Weak transcription	HepG2	liver
40	chr16:30705600-30708600	Weak transcription	HSMM	muscle
41	chr16:30705600-30708800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:30705600-30708800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:30705600-30708800	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:30705600-30708800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:30705800-30708400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:30705800-30708600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:30705800-30708600	Weak transcription	Primary B cells from cord blood	blood
48	chr16:30705800-30708600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:30705800-30708600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:30705800-30708600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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