Variant report

Variant	rs72936327
Chromosome Location	chr2:86367033-86367034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86361107..86363381-chr2:86365316..86368270,4	K562	blood:
2	chr2:86366197..86371549-chr2:86375005..86380562,7	K562	blood:
3	chr2:86364964..86367249-chr2:86370579..86373719,3	K562	blood:
4	chr2:86366245..86368824-chr2:86404814..86406615,2	K562	blood:
5	chr2:86366319..86368824-chr2:86404214..86406615,2	K562	blood:
6	chr2:86364997..86367553-chr2:86368696..86371224,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000208772	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13404334	1.00[EUR][1000 genomes]
rs17027025	1.00[EUR][1000 genomes]
rs1863053	1.00[EUR][1000 genomes]
rs2113613	1.00[EUR][1000 genomes]
rs28687428	1.00[EUR][1000 genomes]
rs35443467	1.00[EUR][1000 genomes]
rs59725174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59774838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60174903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60235051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60433803	1.00[EUR][1000 genomes]
rs61216846	1.00[EUR][1000 genomes]
rs6547664	1.00[EUR][1000 genomes]
rs6547667	1.00[EUR][1000 genomes]
rs6704826	1.00[EUR][1000 genomes]
rs6713309	1.00[EUR][1000 genomes]
rs72926420	1.00[EUR][1000 genomes]
rs72934597	1.00[EUR][1000 genomes]
rs72936310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936330	1.00[EUR][1000 genomes]
rs72936358	1.00[EUR][1000 genomes]
rs72940103	1.00[EUR][1000 genomes]
rs73944245	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73946347	1.00[EUR][1000 genomes]
rs7563209	1.00[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	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking 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	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86335000-86379000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:86335200-86380800	Strong transcription	Fetal Thymus	thymus
4	chr2:86335400-86394000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:86335600-86368000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:86335600-86369200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:86335600-86373600	Strong transcription	K562	blood
9	chr2:86335600-86378800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:86335600-86379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:86335600-86379000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:86335600-86379000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:86335600-86394000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:86335600-86401000	Strong transcription	Placenta	Placenta
15	chr2:86335600-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:86335600-86408600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:86335800-86378600	Strong transcription	Fetal Brain Female	brain
18	chr2:86336000-86378600	Strong transcription	Brain Germinal Matrix	brain
19	chr2:86336000-86378800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:86336000-86378800	Strong transcription	Liver	Liver
21	chr2:86336000-86380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:86336000-86401200	Strong transcription	Adipose Nuclei	Adipose
23	chr2:86336600-86369400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:86336600-86378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:86336600-86378600	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:86336600-86378800	Strong transcription	Fetal Intestine Large	intestine
27	chr2:86336600-86378800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:86336600-86378800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr2:86336600-86394200	Strong transcription	Primary T cells from cord blood	blood
30	chr2:86336800-86379200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:86336800-86407400	Strong transcription	Dnd41	blood
32	chr2:86337600-86367800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:86337600-86369400	Strong transcription	Spleen	Spleen
34	chr2:86337600-86378600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:86337600-86378800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:86339400-86379000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:86340800-86368000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:86340800-86378800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:86341200-86379400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:86341400-86367600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:86341800-86370600	Strong transcription	Brain Anterior Caudate	brain
42	chr2:86341800-86378800	Strong transcription	HMEC	breast
43	chr2:86342000-86369000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr2:86342000-86378600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:86342000-86378800	Strong transcription	Fetal Lung	lung
46	chr2:86342000-86388000	Strong transcription	A549	lung
47	chr2:86342000-86399800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:86342200-86379200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:86342400-86367800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:86342400-86373000	Strong transcription	NHDF-Ad	bronchial

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