Variant report

Variant	rs72930361
Chromosome Location	chr2:86680353-86680354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:86680340-86680584	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:86678462-86682101	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86679722..86682996-chr2:86685853..86688858,3	K562	blood:
2	chr2:86678168..86680549-chr2:86693508..86696096,2	K562	blood:
3	chr2:86677483..86680429-chr2:86702820..86704627,2	K562	blood:

Variant related genes	Relation type
KDM3A	TF binding region
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1030886	0.91[EUR][1000 genomes]
rs1030887	0.91[EUR][1000 genomes]
rs11127043	0.90[EUR][1000 genomes]
rs11548929	0.91[EUR][1000 genomes]
rs11890032	0.81[EUR][1000 genomes]
rs11891659	0.91[EUR][1000 genomes]
rs11899532	0.96[EUR][1000 genomes]
rs1437614	0.93[EUR][1000 genomes]
rs1518808	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1518810	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1518812	0.96[EUR][1000 genomes]
rs17027265	0.96[EUR][1000 genomes]
rs17027270	0.96[EUR][1000 genomes]
rs17027280	0.91[EUR][1000 genomes]
rs17027296	0.87[EUR][1000 genomes]
rs34605051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34633268	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55688177	0.91[EUR][1000 genomes]
rs55708352	0.91[EUR][1000 genomes]
rs55828608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055358	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56085540	0.96[EUR][1000 genomes]
rs56169889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56211578	0.85[EUR][1000 genomes]
rs56227180	0.87[EUR][1000 genomes]
rs56242451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56347930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378606	0.82[EUR][1000 genomes]
rs57291816	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57836876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58091125	0.87[EUR][1000 genomes]
rs58361202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58829418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59026369	0.87[EUR][1000 genomes]
rs59183618	0.93[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	0.87[EUR][1000 genomes]
rs59613942	0.87[EUR][1000 genomes]
rs59859947	0.87[EUR][1000 genomes]
rs59895355	0.87[EUR][1000 genomes]
rs60073472	0.87[EUR][1000 genomes]
rs60244636	0.87[EUR][1000 genomes]
rs60304516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60717666	0.98[EUR][1000 genomes]
rs60796561	0.87[EUR][1000 genomes]
rs60810860	0.93[EUR][1000 genomes]
rs61028062	0.96[EUR][1000 genomes]
rs61465748	0.87[EUR][1000 genomes]
rs61547860	0.91[EUR][1000 genomes]
rs6710780	0.91[EUR][1000 genomes]
rs6720414	0.87[EUR][1000 genomes]
rs6740863	0.91[EUR][1000 genomes]
rs6745875	0.91[EUR][1000 genomes]
rs72930315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72930396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	0.91[EUR][1000 genomes]
rs72932350	0.91[EUR][1000 genomes]
rs72932358	0.91[EUR][1000 genomes]
rs72932364	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72932369	0.91[EUR][1000 genomes]
rs72932380	0.87[EUR][1000 genomes]
rs73949838	0.82[EUR][1000 genomes]
rs73949839	0.82[EUR][1000 genomes]
rs7562493	0.91[EUR][1000 genomes]
rs7585722	0.87[EUR][1000 genomes]
rs7586028	0.87[EUR][1000 genomes]
rs7604179	0.91[EUR][1000 genomes]
rs7608800	0.91[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	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:86670800-86681000	Weak transcription	Stomach Mucosa	stomach
4	chr2:86670800-86684200	Weak transcription	Colonic Mucosa	Colon
5	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:86671200-86689400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:86671400-86684200	Weak transcription	Gastric	stomach
8	chr2:86671400-86685600	Weak transcription	Esophagus	oesophagus
9	chr2:86671400-86687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:86671400-86725600	Strong transcription	A549	lung
12	chr2:86671600-86680800	Weak transcription	Fetal Brain Male	brain
13	chr2:86671600-86695400	Strong transcription	HSMM	muscle
14	chr2:86671600-86719800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
16	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:86671800-86680400	Weak transcription	Right Atrium	heart
18	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:86672000-86681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:86672600-86721200	Strong transcription	Fetal Intestine Large	intestine
21	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:86672800-86680400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:86672800-86680600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:86674000-86685200	Weak transcription	Pancreas	Pancrea
25	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:86674600-86721400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:86674800-86695000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:86675000-86680400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:86675000-86682600	Strong transcription	K562	blood
30	chr2:86675200-86680600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr2:86675400-86694600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:86675600-86692000	Strong transcription	Dnd41	blood
33	chr2:86676000-86680800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:86676200-86682600	Strong transcription	Primary T cells from cord blood	blood
35	chr2:86676400-86680400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:86676400-86680400	Strong transcription	HMEC	breast
37	chr2:86676400-86680600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:86676400-86681200	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:86676400-86683200	Strong transcription	Thymus	Thymus
40	chr2:86676400-86693600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:86676400-86722600	Strong transcription	GM12878-XiMat	blood
42	chr2:86676600-86680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:86676600-86680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:86676600-86680600	Strong transcription	HSMMtube	muscle
45	chr2:86676600-86695600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:86676600-86721600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:86676600-86727200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:86676800-86680400	Strong transcription	NHDF-Ad	bronchial
49	chr2:86676800-86680600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:86676800-86680600	Strong transcription	Liver	Liver

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