Variant report

Variant	rs556462009
Chromosome Location	chr16:30346244-30346245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
2	chr16:30346170..30348596-chr16:30376800..30378752,2	MCF-7	breast:
3	chr16:30346164..30346852-chrX:118109757..118110705,2	Hela-S3	cervix:
4	chr16:30346222..30347053-chr6:2999778..3000588,2	Hela-S3	cervix:
5	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
6	chr16:30345336..30346987-chr16:30364992..30366777,2	K562	blood:
7	chr16:30345346..30347194-chr16:30364689..30366452,2	MCF-7	breast:
8	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:
9	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239791	Chromatin interaction
ENSG00000175556	Chromatin interaction
ENSG00000124588	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000229809	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
10	nsv9437	chr16:30339340-30346359	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30344000-30347000	Active TSS	GM12878-XiMat	blood
2	chr16:30344000-30347000	Active TSS	NHEK	skin
3	chr16:30344200-30347600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:30344400-30347000	Weak transcription	Fetal Heart	heart
5	chr16:30344400-30347000	Active TSS	Hela-S3	cervix
6	chr16:30344400-30347000	Active TSS	HSMMtube	muscle
7	chr16:30344400-30347000	Active TSS	K562	blood
8	chr16:30344400-30347200	Active TSS	HepG2	liver
9	chr16:30344600-30346800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:30344600-30347000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:30344600-30347000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr16:30344600-30347000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:30344600-30347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr16:30344600-30347000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:30344600-30347000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:30344600-30347200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:30344600-30347200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:30344600-30347200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:30344600-30347200	Active TSS	HMEC	breast
20	chr16:30344600-30347400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:30344800-30346800	Active TSS	Dnd41	blood
22	chr16:30344800-30347000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:30344800-30347000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:30344800-30347000	Active TSS	HUVEC	blood vessel
25	chr16:30344800-30347400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:30344800-30347600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:30345200-30346800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr16:30345200-30346800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:30345200-30346800	Active TSS	Fetal Thymus	thymus
30	chr16:30345200-30346800	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr16:30345200-30347000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:30345200-30347000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr16:30345200-30347000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:30345200-30347000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:30345200-30347000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr16:30345200-30347000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:30345200-30347000	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr16:30345200-30347000	Active TSS	Duodenum Mucosa	Duodenum
39	chr16:30345200-30347000	Active TSS	Fetal Intestine Small	intestine
40	chr16:30345200-30347000	Active TSS	Fetal Lung	lung
41	chr16:30345200-30347000	Active TSS	Fetal Muscle Leg	muscle
42	chr16:30345200-30347000	Active TSS	A549	lung
43	chr16:30345200-30347200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:30345200-30347200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:30345200-30347200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:30345200-30347200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr16:30345200-30347200	Active TSS	Psoas Muscle	Psoas
48	chr16:30345200-30347200	Active TSS	Right Atrium	heart
49	chr16:30345200-30347200	Active TSS	Right Ventricle	heart
50	chr16:30345200-30347200	Active TSS	NHDF-Ad	bronchial

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