Variant report

Variant	rs36018996
Chromosome Location	chr16:31540001-31540002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31539583..31542235-chr16:31544201..31546359,2	MCF-7	breast:
2	chr16:31530119..31532090-chr16:31539372..31541784,2	MCF-7	breast:
3	chr16:31493200..31498370-chr16:31536887..31540209,4	K562	blood:
4	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
5	chr16:31537316..31539067-chr16:31539316..31542062,2	K562	blood:
6	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:

Variant related genes	Relation type
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000140675	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs41371846	1.00[AMR][1000 genomes]
rs41520646	1.00[AMR][1000 genomes]
rs57483806	1.00[AMR][1000 genomes]
rs58114676	1.00[AMR][1000 genomes]
rs61739535	1.00[AMR][1000 genomes]
rs61746400	1.00[AMR][1000 genomes]
rs74015554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer 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	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31538800-31540800	Flanking Active TSS	K562	blood
2	chr16:31539200-31540200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:31539200-31540400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr16:31539200-31540600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr16:31539200-31540600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr16:31539200-31540800	Bivalent Enhancer	Primary B cells from cord blood	blood
7	chr16:31539400-31541200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:31539400-31541600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:31539600-31540200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
10	chr16:31539600-31540200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr16:31539600-31540400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:31539600-31540400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr16:31539600-31540400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr16:31539600-31540400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr16:31539600-31540800	Enhancers	Spleen	Spleen
16	chr16:31539600-31541600	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr16:31539800-31540200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr16:31539800-31540200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr16:31539800-31540200	Enhancers	Ovary	ovary
20	chr16:31539800-31540200	Enhancers	Right Ventricle	heart
21	chr16:31539800-31540400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr16:31539800-31540600	Enhancers	Pancreas	Pancrea
23	chr16:31539800-31540800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr16:31540000-31540200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr16:31540000-31540200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:31540000-31540200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:31540000-31540200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:31540000-31540200	Enhancers	Fetal Heart	heart
29	chr16:31540000-31540200	Enhancers	Right Atrium	heart
30	chr16:31540000-31540200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr16:31540000-31540200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr16:31540000-31540400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:31540000-31540400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:31540000-31540400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:31540000-31540400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr16:31540000-31540400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr16:31540000-31540400	Bivalent Enhancer	NH-A	brain
38	chr16:31540000-31540600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:31540000-31540600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:31540000-31540600	Enhancers	Primary hematopoietic stem cells	blood
41	chr16:31540000-31540800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:31540000-31540800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr16:31540000-31541200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr16:31540000-31541400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr16:31540000-31541600	Active TSS	Colon Smooth Muscle	Colon
46	chr16:31540000-31541600	Enhancers	Gastric	stomach
47	chr16:31540000-31541800	Active TSS	Aorta	Aorta

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