Variant report

Variant	rs72875623
Chromosome Location	chr2:46718377-46718378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46713674..46717376-chr2:46717590..46719594,3	K562	blood:
2	chr2:46713674..46716471-chr2:46717649..46719594,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17035171	1.00[EUR][1000 genomes]
rs57689608	1.00[EUR][1000 genomes]
rs57855710	1.00[EUR][1000 genomes]
rs58237950	1.00[EUR][1000 genomes]
rs59180948	1.00[EUR][1000 genomes]
rs59376417	1.00[EUR][1000 genomes]
rs60271025	1.00[EUR][1000 genomes]
rs60426488	0.83[AMR][1000 genomes]
rs61093993	1.00[EUR][1000 genomes]
rs61436327	1.00[EUR][1000 genomes]
rs61498129	1.00[EUR][1000 genomes]
rs61693092	1.00[EUR][1000 genomes]
rs61995899	1.00[EUR][1000 genomes]
rs66533451	0.80[AFR][1000 genomes]
rs6741442	1.00[EUR][1000 genomes]
rs6741678	1.00[EUR][1000 genomes]
rs6746695	0.83[AMR][1000 genomes]
rs72873709	1.00[EUR][1000 genomes]
rs72873728	1.00[EUR][1000 genomes]
rs72873778	1.00[EUR][1000 genomes]
rs72873781	1.00[EUR][1000 genomes]
rs72873783	1.00[EUR][1000 genomes]
rs72873787	1.00[EUR][1000 genomes]
rs72873789	1.00[EUR][1000 genomes]
rs72873791	1.00[EUR][1000 genomes]
rs72875604	1.00[EUR][1000 genomes]
rs72875615	1.00[EUR][1000 genomes]
rs7557688	1.00[EUR][1000 genomes]
rs7568949	1.00[EUR][1000 genomes]
rs7572109	1.00[EUR][1000 genomes]
rs7591555	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv581747	chr2:46709571-46718989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46713800-46718800	Enhancers	Spleen	Spleen
2	chr2:46714600-46718400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:46714600-46718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:46714600-46718800	Enhancers	Fetal Heart	heart
5	chr2:46714600-46718800	Enhancers	NHLF	lung
6	chr2:46714600-46719200	Enhancers	Left Ventricle	heart
7	chr2:46714800-46718600	Enhancers	Right Ventricle	heart
8	chr2:46714800-46718800	Enhancers	Adipose Nuclei	Adipose
9	chr2:46714800-46718800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:46714800-46720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:46714800-46721600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:46715200-46718800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:46715400-46720400	Weak transcription	HUVEC	blood vessel
14	chr2:46715800-46719800	Weak transcription	A549	lung
15	chr2:46715800-46720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:46716000-46718600	Enhancers	Brain Germinal Matrix	brain
17	chr2:46716200-46718600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:46716200-46718600	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:46716200-46719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:46716400-46718400	Enhancers	Primary B cells from cord blood	blood
21	chr2:46716400-46718600	Enhancers	Fetal Brain Male	brain
22	chr2:46716400-46718800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:46716400-46719000	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:46716600-46718400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:46716600-46718400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:46716600-46718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:46716600-46718400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr2:46716600-46718400	Enhancers	Right Atrium	heart
29	chr2:46716600-46718600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:46716600-46718600	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:46716600-46718600	Enhancers	Brain Substantia Nigra	brain
32	chr2:46716600-46718800	Enhancers	Brain Angular Gyrus	brain
33	chr2:46716600-46718800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:46716600-46718800	Enhancers	Fetal Stomach	stomach
35	chr2:46716600-46718800	Enhancers	Fetal Thymus	thymus
36	chr2:46716600-46720400	Enhancers	GM12878-XiMat	blood
37	chr2:46716800-46718400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:46716800-46718400	Enhancers	HSMMtube	muscle
39	chr2:46716800-46718800	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:46717000-46718800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:46717200-46718400	Enhancers	Colon Smooth Muscle	Colon
42	chr2:46717200-46718400	Enhancers	Lung	lung
43	chr2:46717200-46718400	Enhancers	NHDF-Ad	bronchial
44	chr2:46717200-46718800	Enhancers	Fetal Muscle Leg	muscle
45	chr2:46717200-46720000	Weak transcription	Osteobl	bone
46	chr2:46717400-46718400	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:46717400-46718800	Enhancers	Fetal Lung	lung
48	chr2:46717600-46718400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:46717600-46718400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:46717600-46718400	Enhancers	Ovary	ovary

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