Variant report

Variant	rs72936513
Chromosome Location	chr2:87034555-87034556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:87030047..87032736-chr2:87033123..87034744,3	MCF-7	breast:
2	chr2:87016632..87018790-chr2:87032170..87034818,2	MCF-7	breast:
3	chr2:87027429..87029598-chr2:87032662..87035467,2	MCF-7	breast:
4	chr2:86849445..86851190-chr2:87032691..87035125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000153563	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56979390	1.00[AMR][1000 genomes]
rs6758280	1.00[AMR][1000 genomes]
rs7596866	1.00[AMR][1000 genomes]
rs9967845	1.00[AMR][1000 genomes]

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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
16	nsv961427	chr2:87032925-87059989	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87033200-87034600	Flanking Active TSS	Fetal Thymus	thymus
2	chr2:87033200-87034800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr2:87033200-87035000	Active TSS	Primary T cells from cord blood	blood
4	chr2:87033600-87034600	Weak transcription	Esophagus	oesophagus
5	chr2:87033600-87034600	Enhancers	Spleen	Spleen
6	chr2:87033800-87034600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:87034000-87034600	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:87034000-87037000	Active TSS	Thymus	Thymus
9	chr2:87034000-87037400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
10	chr2:87034200-87034600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr2:87034200-87034600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:87034200-87034800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:87034200-87034800	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr2:87034200-87035000	Active TSS	Brain Germinal Matrix	brain
15	chr2:87034200-87035200	Active TSS	Fetal Intestine Small	intestine
16	chr2:87034200-87035400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:87034200-87035400	Active TSS	Fetal Brain Female	brain
18	chr2:87034200-87035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:87034200-87035800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:87034200-87037200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:87034400-87034600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr2:87034400-87034600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:87034400-87034600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:87034400-87034600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr2:87034400-87034600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:87034400-87034600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr2:87034400-87034600	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr2:87034400-87034600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr2:87034400-87034600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:87034400-87034600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr2:87034400-87034600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr2:87034400-87034600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:87034400-87034600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
34	chr2:87034400-87034600	Enhancers	Liver	Liver
35	chr2:87034400-87034600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr2:87034400-87034600	Active TSS	Brain Anterior Caudate	brain
37	chr2:87034400-87034600	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:87034400-87034600	Active TSS	Brain Hippocampus Middle	brain
39	chr2:87034400-87034600	Active TSS	Colonic Mucosa	Colon
40	chr2:87034400-87034600	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr2:87034400-87034600	Enhancers	Gastric	stomach
42	chr2:87034400-87034600	Enhancers	Lung	lung
43	chr2:87034400-87034600	Enhancers	Pancreas	Pancrea
44	chr2:87034400-87034600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:87034400-87034600	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:87034400-87034600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr2:87034400-87034600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:87034400-87034600	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr2:87034400-87034600	Flanking Active TSS	A549	lung
50	chr2:87034400-87034600	Enhancers	Dnd41	blood

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