Variant report

Variant	rs13334862
Chromosome Location	chr16:70699685-70699686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
2	chr16:70695544..70698272-chr16:70698602..70701908,3	K562	blood:
3	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
4	chr16:70697692..70701444-chr16:70709589..70713231,3	MCF-7	breast:
5	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:
6	chr16:70694540..70696978-chr16:70697055..70699897,3	K562	blood:
7	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000268927	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28796574	0.89[AMR][1000 genomes]
rs28805320	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28883880	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58896122	0.81[AMR][1000 genomes]
rs7202561	1.00[EUR][1000 genomes]
rs73575035	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575039	0.89[AMR][1000 genomes]
rs8043605	1.00[EUR][1000 genomes]
rs8056474	1.00[EUR][1000 genomes]
rs9934263	1.00[AMR][1000 genomes]
rs9938687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription 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	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906881	chr16:70688073-70700214	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv906883	chr16:70694000-70704974	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
5	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
6	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
7	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
8	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
9	chr16:70688600-70702400	Weak transcription	K562	blood
10	chr16:70693400-70700400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:70695200-70700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:70695400-70702600	Strong transcription	Brain Germinal Matrix	brain
14	chr16:70695400-70702600	Strong transcription	Thymus	Thymus
15	chr16:70695400-70702800	Strong transcription	Fetal Brain Female	brain
16	chr16:70695600-70712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:70695600-70714200	Strong transcription	Placenta	Placenta
18	chr16:70695600-70714400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr16:70695600-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:70695600-70714400	Strong transcription	Lung	lung
21	chr16:70695600-70714600	Strong transcription	Liver	Liver
22	chr16:70695800-70700800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:70695800-70701200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:70695800-70701200	Strong transcription	Esophagus	oesophagus
25	chr16:70695800-70702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:70695800-70702600	Strong transcription	HepG2	liver
27	chr16:70695800-70713800	Strong transcription	Fetal Intestine Large	intestine
28	chr16:70695800-70714200	Strong transcription	NHDF-Ad	bronchial
29	chr16:70696000-70702000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:70696000-70702600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:70696000-70707000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:70696000-70714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:70696000-70714200	Strong transcription	Fetal Thymus	thymus
34	chr16:70696400-70700600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr16:70696400-70705000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr16:70696400-70713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:70696400-70714200	Strong transcription	Fetal Intestine Small	intestine
38	chr16:70696600-70700400	Strong transcription	Right Ventricle	heart
39	chr16:70696600-70701000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:70696600-70702600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:70696600-70713400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:70696600-70714200	Strong transcription	Fetal Lung	lung
43	chr16:70696800-70699800	Weak transcription	Fetal Kidney	kidney
44	chr16:70696800-70700200	Weak transcription	NH-A	brain
45	chr16:70696800-70700600	Weak transcription	Fetal Brain Male	brain
46	chr16:70696800-70701200	Strong transcription	Aorta	Aorta
47	chr16:70696800-70713600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:70696800-70714200	Strong transcription	Osteobl	bone
49	chr16:70697000-70700400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:70697000-70700400	Strong transcription	Pancreas	Pancrea

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