Variant report

Variant	rs11644370
Chromosome Location	chr16:30844716-30844717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2054214	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30826400-30844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:30836000-30850600	Weak transcription	Esophagus	oesophagus
3	chr16:30836600-30845400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:30837200-30849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:30840200-30856400	Weak transcription	Aorta	Aorta
6	chr16:30841000-30845200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:30841000-30845400	Weak transcription	Lung	lung
8	chr16:30841000-30856200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:30841000-30858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:30841200-30844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:30841200-30844800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:30841200-30845200	Weak transcription	Brain Anterior Caudate	brain
13	chr16:30841200-30845400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:30841200-30845400	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:30841200-30851000	Weak transcription	Brain Substantia Nigra	brain
16	chr16:30841400-30844800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:30841400-30844800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:30841400-30845000	Weak transcription	Right Ventricle	heart
19	chr16:30841400-30856200	Weak transcription	Left Ventricle	heart
20	chr16:30841800-30844800	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:30841800-30845200	Weak transcription	Brain Germinal Matrix	brain
22	chr16:30842000-30844800	Weak transcription	Fetal Intestine Small	intestine
23	chr16:30842200-30849000	Weak transcription	Fetal Intestine Large	intestine
24	chr16:30842200-30850800	Weak transcription	HSMMtube	muscle
25	chr16:30842600-30844800	Weak transcription	Adipose Nuclei	Adipose
26	chr16:30842600-30845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:30842600-30856200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:30843200-30845000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:30843200-30845000	Weak transcription	Fetal Lung	lung
30	chr16:30843200-30845400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:30843400-30849000	Weak transcription	Placenta	Placenta
32	chr16:30844200-30855800	Weak transcription	Fetal Kidney	kidney
33	chr16:30844200-30856200	Weak transcription	Primary T cells from cord blood	blood
34	chr16:30844200-30856400	Weak transcription	Gastric	stomach
35	chr16:30844400-30856000	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:30844600-30845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:30844600-30846200	Strong transcription	Ovary	ovary
38	chr16:30844600-30846400	Strong transcription	Fetal Brain Female	brain
39	chr16:30844600-30847000	Strong transcription	Fetal Stomach	stomach
40	chr16:30844600-30848200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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