Variant report

Variant	rs538860430
Chromosome Location	chr16:31438762-31438763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31431135..31433955-chr16:31436468..31439057,3	K562	blood:
2	chr16:31438153..31440436-chr16:31470611..31472702,2	K562	blood:

Variant related genes	Relation type
ENSG00000140691	Chromatin interaction
ENSG00000260267	Chromatin interaction

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

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	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
6	nsv1066280	chr16:31396464-31452067	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
8	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
9	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
10	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
11	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
12	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	esv3402863	chr16:31437451-31439449	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31424400-31439000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:31428000-31438800	Weak transcription	Gastric	stomach
3	chr16:31433800-31438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:31437400-31439200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr16:31437600-31439200	Enhancers	Fetal Heart	heart
6	chr16:31438400-31438800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr16:31438400-31438800	Transcr. at gene 5' and 3'	Left Ventricle	heart
8	chr16:31438400-31439000	Enhancers	Fetal Intestine Small	intestine
9	chr16:31438600-31438800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:31438600-31438800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr16:31438600-31438800	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:31438600-31438800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:31438600-31438800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:31438600-31438800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr16:31438600-31438800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:31438600-31438800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:31438600-31438800	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr16:31438600-31438800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr16:31438600-31438800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr16:31438600-31438800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:31438600-31438800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr16:31438600-31438800	Enhancers	Duodenum Mucosa	Duodenum
23	chr16:31438600-31438800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr16:31438600-31438800	Enhancers	Ovary	ovary
25	chr16:31438600-31438800	Enhancers	Pancreas	Pancrea
26	chr16:31438600-31438800	Flanking Active TSS	Psoas Muscle	Psoas
27	chr16:31438600-31438800	Flanking Active TSS	Small Intestine	intestine
28	chr16:31438600-31438800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:31438600-31439000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr16:31438600-31439000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:31438600-31439000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr16:31438600-31439000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr16:31438600-31439000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr16:31438600-31439000	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr16:31438600-31439000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr16:31438600-31439000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr16:31438600-31439000	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr16:31438600-31439000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr16:31438600-31439000	Bivalent Enhancer	Placenta	Placenta
40	chr16:31438600-31439000	Enhancers	Fetal Thymus	thymus
41	chr16:31438600-31439000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr16:31438600-31439000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr16:31438600-31439000	Flanking Active TSS	Right Atrium	heart
44	chr16:31438600-31439000	Flanking Active TSS	Right Ventricle	heart
45	chr16:31438600-31439000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr16:31438600-31439000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
47	chr16:31438600-31439000	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr16:31438600-31439000	Flanking Active TSS	HSMMtube	muscle
49	chr16:31438600-31439000	Bivalent Enhancer	NHEK	skin
50	chr16:31438600-31439200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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