Variant report

Variant	rs34259949
Chromosome Location	chr16:31093008-31093009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30994078..30998079-chr16:31091714..31095478,6	K562	blood:
2	chr16:30994729..30997345-chr16:31091777..31095535,3	K562	blood:
3	chr16:31006925..31008486-chr16:31092296..31094235,2	K562	blood:
4	chr16:31090778..31094988-chr16:31190438..31192944,4	K562	blood:
5	chr16:31092659..31094398-chr16:31453549..31455547,2	MCF-7	breast:
6	chr16:30995968..30997772-chr16:31092336..31095227,3	MCF-7	breast:
7	chr16:30967530..30969261-chr16:31091766..31093550,2	MCF-7	breast:
8	chr16:31091808..31095643-chr16:31127671..31129489,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176723	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099377	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13331793	1.00[AMR][1000 genomes]
rs13339393	1.00[AMR][1000 genomes]
rs17878259	1.00[AFR][1000 genomes]
rs28428182	1.00[AMR][1000 genomes]
rs28637378	1.00[AMR][1000 genomes]
rs34107331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34831291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34889904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55886037	0.82[AFR][1000 genomes]
rs56196402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59076556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61237574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015071	1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[AMR][1000 genomes]
rs9922051	1.00[AMR][1000 genomes]
rs9933960	1.00[AMR][1000 genomes]
rs9940181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	esv993244	chr16:31091981-31101565	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31086400-31104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:31086600-31104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:31086600-31105200	Weak transcription	Right Atrium	heart
4	chr16:31087200-31093200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr16:31087200-31093400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:31087200-31095800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:31087200-31097000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:31087200-31102000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:31087200-31103800	Strong transcription	NHLF	lung
10	chr16:31087200-31104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:31087400-31093200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:31087400-31093200	Weak transcription	Stomach Mucosa	stomach
13	chr16:31087400-31093400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr16:31087400-31095400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr16:31087400-31095600	Strong transcription	Osteobl	bone
16	chr16:31087400-31096000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:31087400-31099200	Strong transcription	HepG2	liver
18	chr16:31087400-31101800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:31087400-31102800	Strong transcription	Thymus	Thymus
20	chr16:31087400-31103000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:31087400-31104400	Strong transcription	Primary T cells from cord blood	blood
22	chr16:31087400-31104400	Strong transcription	Fetal Intestine Small	intestine
23	chr16:31087600-31093400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:31087600-31093400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:31087600-31093400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:31087600-31093600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr16:31087600-31093600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr16:31087600-31093800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr16:31087600-31094000	Genic enhancers	Pancreas	Pancrea
30	chr16:31087600-31094400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:31087600-31094400	Strong transcription	Colonic Mucosa	Colon
32	chr16:31087600-31096800	Strong transcription	Ovary	ovary
33	chr16:31087600-31097000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:31087600-31098400	Strong transcription	Fetal Thymus	thymus
35	chr16:31087600-31100200	Weak transcription	Hela-S3	cervix
36	chr16:31087600-31103000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:31087600-31103000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:31087800-31093400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr16:31087800-31093400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:31087800-31094000	Strong transcription	Left Ventricle	heart
41	chr16:31087800-31095000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:31087800-31096000	Strong transcription	Colon Smooth Muscle	Colon
43	chr16:31087800-31096400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:31087800-31101800	Strong transcription	Liver	Liver
45	chr16:31087800-31101800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr16:31087800-31102200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:31087800-31102800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:31087800-31103000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:31087800-31104000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:31088000-31093800	Strong transcription	Fetal Lung	lung

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