Variant report

Variant	rs3095628
Chromosome Location	chr16:47251015-47251016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1015543	1.00[JPT][hapmap]
rs12928230	0.84[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs174642	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[ASN][1000 genomes]
rs2880117	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3095622	0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs35514741	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	esv1801259	chr16:47188507-47252682	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv525170	chr16:47194051-47303635	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1821089	chr16:47223418-47330244	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1832105	chr16:47223418-47347780	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3095628	SLC15A4	trans	cerebellum	SCAN
rs3095628	PHKB	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:47192000-47252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr16:47224200-47263000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:47224400-47265600	Weak transcription	HSMMtube	muscle
5	chr16:47224800-47251200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr16:47230000-47332600	Weak transcription	Thymus	Thymus
7	chr16:47231800-47251400	Weak transcription	Left Ventricle	heart
8	chr16:47231800-47264000	Weak transcription	Aorta	Aorta
9	chr16:47231800-47298600	Weak transcription	Right Ventricle	heart
10	chr16:47232400-47291200	Weak transcription	GM12878-XiMat	blood
11	chr16:47233200-47273400	Weak transcription	Small Intestine	intestine
12	chr16:47236200-47291600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:47237200-47254400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:47239000-47270200	Weak transcription	Brain Substantia Nigra	brain
15	chr16:47242800-47253600	Weak transcription	HUVEC	blood vessel
16	chr16:47243000-47260400	Weak transcription	NH-A	brain
17	chr16:47244200-47251200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:47244200-47253800	Weak transcription	NHDF-Ad	bronchial
19	chr16:47245200-47291600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:47245400-47251800	Weak transcription	Hela-S3	cervix
21	chr16:47245400-47294400	Weak transcription	Pancreas	Pancrea
22	chr16:47245600-47251400	Weak transcription	HSMM	muscle
23	chr16:47245600-47252000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:47246200-47252600	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:47246200-47263000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:47246200-47291000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:47246800-47298600	Weak transcription	Brain Angular Gyrus	brain
28	chr16:47247200-47252400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:47247200-47299000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:47247400-47253000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:47247600-47252200	Strong transcription	Dnd41	blood
32	chr16:47247600-47263200	Weak transcription	Fetal Thymus	thymus
33	chr16:47247600-47290000	Weak transcription	Esophagus	oesophagus
34	chr16:47247800-47251600	Strong transcription	Adipose Nuclei	Adipose
35	chr16:47248000-47290600	Weak transcription	HepG2	liver
36	chr16:47248200-47251200	Weak transcription	Primary B cells from cord blood	blood
37	chr16:47248200-47252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:47248200-47252000	Weak transcription	Primary T cells from cord blood	blood
39	chr16:47248200-47255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:47248800-47256000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:47249000-47251600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:47249000-47254400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:47249400-47252200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr16:47249400-47252800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:47249400-47252800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:47249600-47251200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr16:47249600-47252000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:47249800-47251400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr16:47249800-47252200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:47249800-47252200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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