Variant report

Variant	rs72858498
Chromosome Location	chr2:145211738-145211739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145197698..145202447-chr2:145209802..145215980,7	K562	blood:
2	chr2:145210187..145211904-chr2:145273764..145276709,3	K562	blood:
3	chr2:145209344..145212290-chr2:145212621..145216971,7	K562	blood:
4	chr2:145209686..145211904-chr2:145275209..145277631,2	K562	blood:
5	chr2:145203606..145207323-chr2:145208273..145212393,4	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17677434	1.00[ASN][1000 genomes]
rs17678182	1.00[ASN][1000 genomes]
rs35355807	1.00[ASN][1000 genomes]
rs62169201	1.00[ASN][1000 genomes]
rs67375672	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145197000-145212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:145206800-145253400	Weak transcription	Lung	lung
3	chr2:145207200-145211800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:145207200-145212400	Weak transcription	Placenta	Placenta
5	chr2:145207400-145214400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:145207400-145217400	Weak transcription	Spleen	Spleen
7	chr2:145207400-145218800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:145208800-145216200	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:145209200-145214200	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:145209200-145221000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:145209400-145213000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:145209600-145212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:145209600-145219200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:145209800-145211800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:145210000-145218200	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:145210200-145212200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:145210200-145214400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:145210400-145212000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:145210400-145212400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:145210400-145212600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:145210400-145213200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:145210400-145213200	Enhancers	Fetal Stomach	stomach
23	chr2:145210400-145214400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:145210600-145212400	Weak transcription	Fetal Thymus	thymus
25	chr2:145210600-145213000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:145210600-145214400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:145210600-145214800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:145210600-145214800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:145210600-145218800	Weak transcription	Right Ventricle	heart
30	chr2:145210600-145219800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:145210800-145212200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:145210800-145212200	Enhancers	Brain Substantia Nigra	brain
33	chr2:145210800-145212200	Enhancers	Fetal Brain Male	brain
34	chr2:145210800-145212400	Enhancers	Brain Angular Gyrus	brain
35	chr2:145210800-145212400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:145210800-145213000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:145210800-145213000	Enhancers	Ovary	ovary
38	chr2:145210800-145213000	Enhancers	NH-A	brain
39	chr2:145210800-145213400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:145210800-145214400	Weak transcription	Gastric	stomach
41	chr2:145210800-145215000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:145210800-145218800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:145211000-145211800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:145211000-145211800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:145211000-145212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:145211000-145212000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:145211000-145212000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:145211000-145212000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:145211000-145212000	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:145211000-145212000	Enhancers	Brain Hippocampus Middle	brain

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