Variant report

Variant	rs72930396
Chromosome Location	chr2:86702519-86702520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86695836..86698818-chr2:86700426..86702780,2	MCF-7	breast:
2	chr2:86696119..86697934-chr2:86701119..86703979,2	K562	blood:
3	chr2:86702403..86705228-chr2:86714973..86716887,2	K562	blood:
4	chr2:86667335..86669778-chr2:86701132..86704750,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1030886	0.87[EUR][1000 genomes]
rs1030887	0.87[EUR][1000 genomes]
rs11127043	0.86[EUR][1000 genomes]
rs11548929	0.87[EUR][1000 genomes]
rs11891659	0.87[EUR][1000 genomes]
rs11899532	0.96[EUR][1000 genomes]
rs1437614	0.93[EUR][1000 genomes]
rs1518808	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1518810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1518812	0.96[EUR][1000 genomes]
rs17027265	0.96[EUR][1000 genomes]
rs17027270	0.96[EUR][1000 genomes]
rs17027280	0.87[EUR][1000 genomes]
rs17027296	0.83[EUR][1000 genomes]
rs34605051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34633268	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55688177	0.87[EUR][1000 genomes]
rs55708352	0.87[EUR][1000 genomes]
rs55828608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56055358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56085540	0.96[EUR][1000 genomes]
rs56169889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56211578	0.81[EUR][1000 genomes]
rs56227180	0.83[EUR][1000 genomes]
rs56242451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56347930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57291816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57836876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58091125	0.83[EUR][1000 genomes]
rs58361202	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58829418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59026369	0.83[EUR][1000 genomes]
rs59183618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59255035	0.98[EUR][1000 genomes]
rs59336972	0.96[EUR][1000 genomes]
rs59521243	0.83[EUR][1000 genomes]
rs59613942	0.83[EUR][1000 genomes]
rs59859947	0.83[EUR][1000 genomes]
rs59895355	0.83[EUR][1000 genomes]
rs60073472	0.83[EUR][1000 genomes]
rs60244636	0.83[EUR][1000 genomes]
rs60304516	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60717666	0.98[EUR][1000 genomes]
rs60796561	0.83[EUR][1000 genomes]
rs60810860	0.94[EUR][1000 genomes]
rs61028062	0.96[EUR][1000 genomes]
rs61465748	0.83[EUR][1000 genomes]
rs61547860	0.87[EUR][1000 genomes]
rs6710780	0.87[EUR][1000 genomes]
rs6720414	0.83[EUR][1000 genomes]
rs6740863	0.87[EUR][1000 genomes]
rs6745875	0.87[EUR][1000 genomes]
rs72930315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930340	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72930400	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72932307	0.98[EUR][1000 genomes]
rs72932310	0.96[EUR][1000 genomes]
rs72932311	0.96[EUR][1000 genomes]
rs72932316	0.96[EUR][1000 genomes]
rs72932319	0.96[EUR][1000 genomes]
rs72932336	0.87[EUR][1000 genomes]
rs72932350	0.87[EUR][1000 genomes]
rs72932358	0.87[EUR][1000 genomes]
rs72932364	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72932369	0.87[EUR][1000 genomes]
rs72932380	0.83[EUR][1000 genomes]
rs7562493	0.87[EUR][1000 genomes]
rs7585722	0.83[EUR][1000 genomes]
rs7586028	0.83[EUR][1000 genomes]
rs7604179	0.87[EUR][1000 genomes]
rs7608800	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:86671400-86725600	Strong transcription	A549	lung
4	chr2:86671600-86719800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
6	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:86672600-86721200	Strong transcription	Fetal Intestine Large	intestine
9	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:86674600-86721400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:86676400-86722600	Strong transcription	GM12878-XiMat	blood
13	chr2:86676600-86721600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:86676600-86727200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:86676800-86703800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:86677000-86705200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:86677200-86708200	Strong transcription	HepG2	liver
18	chr2:86677200-86709200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:86679400-86708000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:86679600-86721400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:86679600-86721800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:86680200-86722200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:86681000-86720800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:86681600-86722600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:86681600-86727000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:86681800-86702600	Strong transcription	NHDF-Ad	bronchial
28	chr2:86681800-86703600	Strong transcription	Liver	Liver
29	chr2:86682000-86707000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:86682000-86718600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:86682000-86726600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:86682200-86726200	Strong transcription	Fetal Lung	lung
33	chr2:86682400-86704000	Weak transcription	Stomach Mucosa	stomach
34	chr2:86683000-86709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:86683800-86708400	Strong transcription	HMEC	breast
36	chr2:86684000-86720800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:86684000-86726000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:86685400-86707000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:86688800-86704600	Weak transcription	NHEK	skin
40	chr2:86689200-86704000	Weak transcription	Small Intestine	intestine
41	chr2:86690200-86723200	Strong transcription	Primary B cells from cord blood	blood
42	chr2:86690600-86703200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:86692200-86702600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:86693800-86708000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:86694000-86702800	Weak transcription	NHLF	lung
46	chr2:86694000-86707000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:86694000-86709000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:86694600-86703000	Strong transcription	Colon Smooth Muscle	Colon
49	chr2:86695000-86702600	Weak transcription	Colonic Mucosa	Colon
50	chr2:86695000-86705400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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