Variant report

Variant	rs200887940
Chromosome Location	chr16:70713277-70713278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70709478-70713336	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70713112-70713365	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70712210-70713293	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
2	chr16:70710951..70713595-chr16:70779027..70782774,3	MCF-7	breast:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000260156	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
12	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
13	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
14	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
15	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
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv3395753	chr16:70712901-70715049	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
2	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70695600-70714200	Strong transcription	Placenta	Placenta
4	chr16:70695600-70714400	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr16:70695600-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:70695600-70714400	Strong transcription	Lung	lung
7	chr16:70695600-70714600	Strong transcription	Liver	Liver
8	chr16:70695800-70713800	Strong transcription	Fetal Intestine Large	intestine
9	chr16:70695800-70714200	Strong transcription	NHDF-Ad	bronchial
10	chr16:70696000-70714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:70696000-70714200	Strong transcription	Fetal Thymus	thymus
12	chr16:70696400-70713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:70696400-70714200	Strong transcription	Fetal Intestine Small	intestine
14	chr16:70696600-70713400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:70696600-70714200	Strong transcription	Fetal Lung	lung
16	chr16:70696800-70713600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:70696800-70714200	Strong transcription	Osteobl	bone
18	chr16:70697200-70713400	Strong transcription	Adipose Nuclei	Adipose
19	chr16:70697400-70713400	Strong transcription	A549	lung
20	chr16:70697600-70713600	Strong transcription	Fetal Stomach	stomach
21	chr16:70697600-70713600	Strong transcription	Ovary	ovary
22	chr16:70697600-70713800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:70697600-70714200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:70698000-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:70698800-70713400	Strong transcription	NHLF	lung
26	chr16:70699600-70713400	Strong transcription	HSMM	muscle
27	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
28	chr16:70701000-70714200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:70703000-70713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:70703000-70715200	Strong transcription	Thymus	Thymus
31	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
32	chr16:70703200-70714400	Strong transcription	Brain Germinal Matrix	brain
33	chr16:70703200-70714400	Strong transcription	Fetal Brain Female	brain
34	chr16:70703400-70713800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:70703400-70714400	Strong transcription	HepG2	liver
36	chr16:70703800-70714600	Strong transcription	Dnd41	blood
37	chr16:70704600-70714200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:70704600-70715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:70704800-70714200	Weak transcription	Fetal Brain Male	brain
40	chr16:70705200-70715200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:70705600-70713400	Strong transcription	Brain Hippocampus Middle	brain
42	chr16:70705800-70715400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:70706800-70713400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr16:70707200-70713600	Strong transcription	Brain Anterior Caudate	brain
45	chr16:70708000-70713800	Strong transcription	Left Ventricle	heart
46	chr16:70708000-70713800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr16:70708000-70714200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:70708000-70714400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
50	chr16:70708200-70714600	Strong transcription	Gastric	stomach

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