Variant report

Variant	rs2011677
Chromosome Location	chr16:46652003-46652004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46638622..46640277-chr16:46650672..46652723,2	K562	blood:
2	chr16:46651769..46655217-chr16:46661271..46664188,4	K562	blood:
3	chr16:46650731..46653063-chr16:46653686..46656157,4	K562	blood:
4	chr16:46649901..46653063-chr16:46653348..46656157,4	K562	blood:

Variant related genes	Relation type
ENSG00000171241	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11860636	0.85[AFR][1000 genomes]
rs1865837	0.85[AFR][1000 genomes]
rs2164516	0.85[AFR][1000 genomes]
rs4966571	0.85[AFR][1000 genomes]
rs4967248	0.85[AFR][1000 genomes]
rs4967259	0.85[AFR][1000 genomes]
rs6598679	0.85[AFR][1000 genomes]
rs68168898	0.86[AFR][1000 genomes]
rs9924386	0.85[AFR][1000 genomes]
rs9925083	0.82[AFR][1000 genomes]
rs9935045	0.85[AFR][1000 genomes]

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:96 , 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	chr16:46615200-46654400	Weak transcription	Fetal Kidney	kidney
3	chr16:46620000-46654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:46625200-46652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:46625200-46653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:46625400-46652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:46625400-46652800	Strong transcription	Dnd41	blood
8	chr16:46625600-46654600	Weak transcription	Left Ventricle	heart
9	chr16:46626600-46652200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:46627600-46654400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:46628200-46654600	Weak transcription	Esophagus	oesophagus
12	chr16:46628600-46654000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:46629000-46654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:46629400-46654600	Weak transcription	Fetal Intestine Small	intestine
15	chr16:46630800-46653400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:46631200-46654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:46632000-46654200	Weak transcription	Fetal Brain Female	brain
18	chr16:46632200-46654800	Weak transcription	Pancreas	Pancrea
19	chr16:46633400-46654200	Weak transcription	Primary B cells from cord blood	blood
20	chr16:46633400-46654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:46635600-46654200	Weak transcription	Placenta	Placenta
22	chr16:46638000-46654600	Weak transcription	Fetal Intestine Large	intestine
23	chr16:46640600-46654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:46643600-46654600	Weak transcription	Gastric	stomach
25	chr16:46643800-46652400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:46643800-46653200	Strong transcription	K562	blood
27	chr16:46644000-46652800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr16:46644200-46652200	Strong transcription	HepG2	liver
29	chr16:46644600-46652200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr16:46644800-46652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:46644800-46652800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:46644800-46653400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:46645400-46654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:46646600-46654800	Weak transcription	Aorta	Aorta
35	chr16:46646800-46652400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr16:46646800-46654600	Weak transcription	Right Atrium	heart
37	chr16:46647000-46654200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:46647000-46654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:46647000-46654400	Weak transcription	Fetal Brain Male	brain
40	chr16:46647200-46654600	Weak transcription	Lung	lung
41	chr16:46647200-46654800	Weak transcription	Spleen	Spleen
42	chr16:46647800-46652600	Weak transcription	NHDF-Ad	bronchial
43	chr16:46648000-46652600	Strong transcription	A549	lung
44	chr16:46648200-46654200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:46648200-46654200	Weak transcription	Brain Germinal Matrix	brain
46	chr16:46648200-46654400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:46648600-46653600	Strong transcription	Hela-S3	cervix
48	chr16:46648600-46654200	Weak transcription	Fetal Heart	heart
49	chr16:46649200-46654200	Weak transcription	Fetal Lung	lung
50	chr16:46650000-46654200	Weak transcription	Small Intestine	intestine

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