Variant report

Variant	rs56193946
Chromosome Location	chr16:30956651-30956652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30906646..30909007-chr16:30955364..30957764,2	K562	blood:
2	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
3	chr16:30956015..30957774-chr16:30957981..30961672,4	MCF-7	breast:
4	chr16:30936946..30939794-chr16:30954365..30957306,2	K562	blood:

Variant related genes	Relation type
ENSG00000099364	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000260852	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12929007	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2054214	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28360556	0.87[EUR][1000 genomes]
rs55731737	0.91[AFR][1000 genomes]
rs55886019	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55908605	0.91[AFR][1000 genomes]
rs72799363	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72799368	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72800842	0.81[AFR][1000 genomes]
rs72800845	0.91[AFR][1000 genomes]
rs72800846	0.91[AFR][1000 genomes]
rs72800849	0.91[AFR][1000 genomes]
rs8058472	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
9	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
10	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
11	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
12	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
13	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
16	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
17	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
18	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS 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 miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30937600-30958600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:30939400-30958800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:30939600-30959000	Strong transcription	Brain Germinal Matrix	brain
4	chr16:30942400-30959600	Weak transcription	Psoas Muscle	Psoas
5	chr16:30947800-30959400	Weak transcription	Ovary	ovary
6	chr16:30949600-30959000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:30950800-30956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:30951600-30959800	Strong transcription	Dnd41	blood
9	chr16:30952000-30958400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:30953200-30956800	Strong transcription	Brain Hippocampus Middle	brain
11	chr16:30953400-30957400	Strong transcription	Fetal Lung	lung
12	chr16:30953600-30959000	Strong transcription	Fetal Stomach	stomach
13	chr16:30953600-30959600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:30953800-30956800	Strong transcription	Brain Cingulate Gyrus	brain
15	chr16:30953800-30956800	Strong transcription	Thymus	Thymus
16	chr16:30953800-30957000	Strong transcription	Placenta	Placenta
17	chr16:30953800-30957600	Strong transcription	Brain Anterior Caudate	brain
18	chr16:30953800-30957800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:30953800-30957800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:30953800-30957800	Weak transcription	Right Ventricle	heart
21	chr16:30953800-30957800	Weak transcription	Spleen	Spleen
22	chr16:30953800-30958200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:30953800-30958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:30953800-30958400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:30953800-30958400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:30953800-30958800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:30953800-30958800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:30953800-30958800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr16:30953800-30959200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:30953800-30959200	Weak transcription	NHDF-Ad	bronchial
31	chr16:30953800-30959400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr16:30953800-30959400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:30953800-30959400	Weak transcription	Pancreas	Pancrea
34	chr16:30953800-30959400	Weak transcription	Right Atrium	heart
35	chr16:30953800-30959400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:30953800-30959600	Weak transcription	Liver	Liver
37	chr16:30953800-30959600	Weak transcription	Left Ventricle	heart
38	chr16:30953800-30960000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr16:30953800-30960000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:30953800-30960000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:30954000-30956800	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:30954000-30956800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr16:30954000-30957400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:30954000-30958000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:30954000-30958000	Weak transcription	Gastric	stomach
46	chr16:30954000-30958600	Weak transcription	Fetal Heart	heart
47	chr16:30954000-30959000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:30954000-30959200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:30954000-30959200	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:30954000-30959600	Weak transcription	Primary B cells from peripheral blood	blood

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