Variant report

Variant	rs567312316
Chromosome Location	chr16:46643324-46643325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46642369..46643957-chr16:46648260..46651071,2	K562	blood:
2	chr16:46636261..46637898-chr16:46641523..46644415,2	K562	blood:

Variant related genes	Relation type
ENSG00000171241	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv1848852	chr16:46463746-46659554	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv917899	chr16:46463769-46669332	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1056162	chr16:46463770-46655516	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv1806429	chr16:46468179-46659554	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv1847767	chr16:46474763-46659354	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1815153	chr16:46474763-46672206	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
13	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv917049	chr16:46500615-46653014	Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv833216	chr16:46501297-46671860	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	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
21	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
22	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv974810	chr16:46642280-46653079	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46608000-46654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:46609400-46646400	Weak transcription	Fetal Heart	heart
3	chr16:46614200-46650000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:46615200-46654400	Weak transcription	Fetal Kidney	kidney
5	chr16:46617200-46643800	Weak transcription	Fetal Stomach	stomach
6	chr16:46619600-46644600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:46620000-46654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:46620800-46649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:46621200-46647400	Weak transcription	NHDF-Ad	bronchial
10	chr16:46625200-46652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:46625200-46653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:46625400-46643400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:46625400-46652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:46625400-46652800	Strong transcription	Dnd41	blood
15	chr16:46625600-46654600	Weak transcription	Left Ventricle	heart
16	chr16:46626600-46652200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:46627200-46646400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:46627200-46651800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:46627600-46654400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:46627800-46646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:46628200-46654600	Weak transcription	Esophagus	oesophagus
22	chr16:46628600-46654000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:46629000-46654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:46629400-46654600	Weak transcription	Fetal Intestine Small	intestine
25	chr16:46629600-46646600	Weak transcription	Fetal Lung	lung
26	chr16:46630800-46653400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:46631200-46654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:46632000-46654200	Weak transcription	Fetal Brain Female	brain
29	chr16:46632200-46654800	Weak transcription	Pancreas	Pancrea
30	chr16:46633000-46649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:46633200-46647200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:46633400-46654200	Weak transcription	Primary B cells from cord blood	blood
33	chr16:46633400-46654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:46634000-46648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:46635600-46654200	Weak transcription	Placenta	Placenta
36	chr16:46637800-46644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:46637800-46647200	Weak transcription	Brain Germinal Matrix	brain
38	chr16:46638000-46643800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:46638000-46644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:46638000-46644600	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:46638000-46644800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:46638000-46644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:46638000-46644800	Weak transcription	Thymus	Thymus
44	chr16:46638000-46645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:46638000-46649200	Weak transcription	Fetal Thymus	thymus
46	chr16:46638000-46649800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:46638000-46649800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:46638000-46654600	Weak transcription	Fetal Intestine Large	intestine
49	chr16:46638200-46644600	Weak transcription	NHEK	skin
50	chr16:46638200-46644800	Weak transcription	NHLF	lung

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