Variant report

Variant	rs559102711
Chromosome Location	chr16:30345485-30345486
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
2	chr16:30345336..30346987-chr16:30364992..30366777,2	K562	blood:
3	chr16:30345346..30347194-chr16:30364689..30366452,2	MCF-7	breast:
4	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169217	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000239791	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
4	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
6	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv12853	chr16:30199661-30346806	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv1811407	chr16:30206038-30346558	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1805420	chr16:30254410-30345836	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv978131	chr16:30269117-30347376	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv9437	chr16:30339340-30346359	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv3439168	chr16:30345276-30348024	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30324200-30345600	Weak transcription	Thymus	Thymus
2	chr16:30325800-30345800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:30326800-30345800	Weak transcription	Lung	lung
4	chr16:30341600-30345800	Weak transcription	Small Intestine	intestine
5	chr16:30343800-30345800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:30344000-30345600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr16:30344000-30347000	Active TSS	GM12878-XiMat	blood
8	chr16:30344000-30347000	Active TSS	NHEK	skin
9	chr16:30344200-30347600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:30344400-30347000	Weak transcription	Fetal Heart	heart
11	chr16:30344400-30347000	Active TSS	Hela-S3	cervix
12	chr16:30344400-30347000	Active TSS	HSMMtube	muscle
13	chr16:30344400-30347000	Active TSS	K562	blood
14	chr16:30344400-30347200	Active TSS	HepG2	liver
15	chr16:30344600-30346800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr16:30344600-30347000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:30344600-30347000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr16:30344600-30347000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:30344600-30347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr16:30344600-30347000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:30344600-30347000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:30344600-30347200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:30344600-30347200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr16:30344600-30347200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:30344600-30347200	Active TSS	HMEC	breast
26	chr16:30344600-30347400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:30344800-30346800	Active TSS	Dnd41	blood
28	chr16:30344800-30347000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:30344800-30347000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:30344800-30347000	Active TSS	HUVEC	blood vessel
31	chr16:30344800-30347400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:30344800-30347600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:30345200-30345600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr16:30345200-30345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:30345200-30346800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr16:30345200-30346800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:30345200-30346800	Active TSS	Fetal Thymus	thymus
38	chr16:30345200-30346800	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:30345200-30347000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:30345200-30347000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr16:30345200-30347000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr16:30345200-30347000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:30345200-30347000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr16:30345200-30347000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr16:30345200-30347000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr16:30345200-30347000	Active TSS	Duodenum Mucosa	Duodenum
47	chr16:30345200-30347000	Active TSS	Fetal Intestine Small	intestine
48	chr16:30345200-30347000	Active TSS	Fetal Lung	lung
49	chr16:30345200-30347000	Active TSS	Fetal Muscle Leg	muscle
50	chr16:30345200-30347000	Active TSS	A549	lung

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