Variant report

Variant	rs191179750
Chromosome Location	chr16:12825101-12825102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12823466..12825378-chr16:12892551..12895015,2	K562	blood:

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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:12798400-12825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr16:12798600-12825800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
5	chr16:12798800-12826600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:12813200-12826200	Strong transcription	HepG2	liver
7	chr16:12814000-12826200	Weak transcription	Brain Angular Gyrus	brain
8	chr16:12814200-12825600	Weak transcription	Liver	Liver
9	chr16:12814600-12825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:12817800-12827400	Weak transcription	Esophagus	oesophagus
11	chr16:12818400-12826200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:12818400-12834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:12818600-12826200	Weak transcription	Aorta	Aorta
14	chr16:12818600-12826200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:12819800-12825600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:12821600-12826200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:12822000-12825800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:12823200-12825200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:12823200-12826000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12823800-12826400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:12824000-12826400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:12824200-12826200	Weak transcription	HSMM	muscle
23	chr16:12824400-12829000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:12824600-12826200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:12824600-12826200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:12824600-12826200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:12824600-12828200	Weak transcription	HSMMtube	muscle
28	chr16:12824800-12825400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:12824800-12826200	Weak transcription	HUVEC	blood vessel
30	chr16:12824800-12828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:12824800-12847800	Weak transcription	Osteobl	bone
32	chr16:12825000-12825400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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