Variant report

Variant	rs370493911
Chromosome Location	chr16:70688591-70688592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70611435..70614345-chr16:70688186..70690575,2	K562	blood:
2	chr16:70414237..70416453-chr16:70688010..70689674,2	MCF-7	breast:
3	chr16:70688085..70692168-chr16:70718317..70721459,4	MCF-7	breast:
4	chr16:70380612..70382422-chr16:70687697..70689426,2	MCF-7	breast:
5	chr16:70679648..70683567-chr16:70688197..70691172,3	K562	blood:
6	chr16:70555993..70558227-chr16:70687892..70690787,2	K562	blood:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000261777	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70685600-70693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:70687400-70688600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr16:70687800-70688600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:70687800-70688600	Enhancers	Liver	Liver
8	chr16:70687800-70688600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:70687800-70688600	Enhancers	Fetal Muscle Leg	muscle
10	chr16:70687800-70688600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr16:70687800-70688600	Enhancers	HSMMtube	muscle
12	chr16:70688000-70688600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:70688000-70688600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:70688000-70688600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:70688000-70688600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr16:70688200-70688600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:70688200-70688600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:70688200-70688600	Enhancers	Esophagus	oesophagus
19	chr16:70688200-70688600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:70688200-70688600	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:70688200-70688600	Enhancers	Fetal Stomach	stomach
22	chr16:70688200-70688600	Genic enhancers	Gastric	stomach
23	chr16:70688200-70688600	Enhancers	Pancreas	Pancrea
24	chr16:70688200-70688600	Enhancers	Right Ventricle	heart
25	chr16:70688200-70688600	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr16:70688200-70688600	Enhancers	HMEC	breast
27	chr16:70688200-70688600	Flanking Active TSS	NHDF-Ad	bronchial
28	chr16:70688200-70688600	Enhancers	NHEK	skin
29	chr16:70688200-70688600	Enhancers	NHLF	lung
30	chr16:70688200-70688800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:70688200-70690000	Weak transcription	Fetal Intestine Large	intestine
32	chr16:70688200-70690800	Weak transcription	Lung	lung
33	chr16:70688200-70694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:70688200-70695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:70688200-70695400	Weak transcription	Brain Germinal Matrix	brain
36	chr16:70688200-70695400	Weak transcription	Thymus	Thymus
37	chr16:70688200-70695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:70688200-70695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:70688200-70696000	Strong transcription	Fetal Intestine Small	intestine
40	chr16:70688200-70696200	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
42	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:70688400-70688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:70688400-70688600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:70688400-70688600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:70688400-70688600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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