Variant report

Variant	rs36468
Chromosome Location	chr16:46778276-46778277
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46776007..46778595-chr16:46797894..46800588,2	K562	blood:
2	chr16:46776667..46778903-chr16:46781931..46783733,2	K562	blood:

Variant related genes	Relation type
ENSG00000140795	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs252728	1.00[YRI][hapmap]
rs28185	0.83[YRI][hapmap]
rs36461	1.00[YRI][hapmap]
rs36465	1.00[YRI][hapmap]
rs36466	1.00[YRI][hapmap]
rs36470	1.00[YRI][hapmap]

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	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46774000-46779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46776400-46779400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:46777400-46778600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:46777400-46779000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:46777400-46779000	Weak transcription	Brain Anterior Caudate	brain
6	chr16:46777400-46780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:46777600-46778400	Weak transcription	Right Ventricle	heart
8	chr16:46777600-46778600	Weak transcription	Left Ventricle	heart
9	chr16:46777600-46778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:46777600-46779000	Weak transcription	Right Atrium	heart
11	chr16:46777600-46779600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:46777600-46779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:46777600-46779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:46777600-46780400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:46777600-46780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:46777600-46780600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:46777600-46780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:46777600-46780600	Weak transcription	Placenta	Placenta
19	chr16:46777600-46780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:46777600-46780800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:46777600-46780800	Weak transcription	HSMMtube	muscle
22	chr16:46777600-46781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr16:46777600-46781200	Weak transcription	Psoas Muscle	Psoas
24	chr16:46777600-46782000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:46777600-46782000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:46777600-46798200	Weak transcription	Spleen	Spleen
27	chr16:46777800-46778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:46777800-46778800	Enhancers	Fetal Heart	heart
29	chr16:46777800-46779000	Enhancers	Primary B cells from cord blood	blood
30	chr16:46777800-46779000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:46777800-46779000	Weak transcription	K562	blood
32	chr16:46777800-46779200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:46777800-46779200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:46777800-46779600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr16:46777800-46779800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:46777800-46780400	Weak transcription	Fetal Muscle Leg	muscle
37	chr16:46777800-46780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:46777800-46780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:46777800-46781800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:46777800-46782000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr16:46777800-46782200	Weak transcription	GM12878-XiMat	blood
42	chr16:46778200-46782200	Weak transcription	Primary B cells from peripheral blood	blood

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