Variant report

Variant	rs4781335
Chromosome Location	chr16:12871249-12871250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16960663	1.00[CEU][hapmap]
rs4781325	1.00[CEU][hapmap]
rs4781326	1.00[CEU][hapmap]
rs8049496	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
2	chr16:12839600-12873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:12850200-12876400	Weak transcription	Primary T cells from cord blood	blood
4	chr16:12852200-12896600	Weak transcription	Right Ventricle	heart
5	chr16:12852400-12873600	Weak transcription	Spleen	Spleen
6	chr16:12852400-12896600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:12852600-12877600	Weak transcription	HSMMtube	muscle
8	chr16:12855000-12881800	Weak transcription	Pancreas	Pancrea
9	chr16:12857200-12881800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:12859000-12873600	Weak transcription	Gastric	stomach
11	chr16:12859000-12873600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:12860000-12879400	Weak transcription	Fetal Heart	heart
13	chr16:12860400-12877400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:12860600-12877000	Weak transcription	Psoas Muscle	Psoas
15	chr16:12861800-12883400	Weak transcription	Colonic Mucosa	Colon
16	chr16:12862200-12878000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:12862200-12878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:12862600-12873400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:12862800-12876600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:12862800-12876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:12863800-12875800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:12864400-12873800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:12865400-12873600	Weak transcription	HMEC	breast
24	chr16:12865400-12877800	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:12865600-12873600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:12865600-12873600	Weak transcription	HUVEC	blood vessel
27	chr16:12865600-12881800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:12865600-12892400	Weak transcription	Osteobl	bone
29	chr16:12865800-12873600	Weak transcription	NH-A	brain
30	chr16:12866400-12873200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:12866400-12873600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:12866600-12873800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:12866600-12874600	Strong transcription	HepG2	liver
34	chr16:12866800-12873600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:12866800-12873600	Weak transcription	Brain Angular Gyrus	brain
36	chr16:12866800-12875400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:12867000-12871800	Strong transcription	HSMM	muscle
38	chr16:12867000-12875200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr16:12867200-12873800	Weak transcription	Dnd41	blood
40	chr16:12867400-12877600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:12867400-12877600	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:12867800-12871400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:12867800-12871400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:12867800-12878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:12867800-12886600	Weak transcription	K562	blood
46	chr16:12868200-12875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:12868200-12876000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:12868400-12871400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:12868400-12871600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:12868400-12871800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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