Variant report

Variant	rs72858496
Chromosome Location	chr2:145209916-145209917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145197698..145202447-chr2:145209802..145215980,7	K562	blood:
2	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
3	chr2:145209344..145212290-chr2:145212621..145216971,7	K562	blood:
4	chr2:145209148..145210888-chr2:145417930..145420148,2	K562	blood:
5	chr2:145209686..145211904-chr2:145275209..145277631,2	K562	blood:
6	chr2:145201294..145201913-chr2:145209488..145210295,2	K562	blood:
7	chr2:145203606..145207323-chr2:145208273..145212393,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10164806	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192562	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210063	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12105521	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105918	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401103	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823732	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858474	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560525	0.88[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:145194800-145210600	Weak transcription	Gastric	stomach
3	chr2:145197000-145212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:145204200-145210000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:145206400-145211600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:145206600-145210000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:145206800-145210800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:145206800-145210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:145206800-145253400	Weak transcription	Lung	lung
10	chr2:145207200-145210000	Weak transcription	Right Ventricle	heart
11	chr2:145207200-145210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:145207200-145210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:145207200-145210800	Weak transcription	Small Intestine	intestine
14	chr2:145207200-145211800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:145207200-145212400	Weak transcription	Placenta	Placenta
16	chr2:145207400-145210000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:145207400-145210000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:145207400-145210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:145207400-145214400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:145207400-145217400	Weak transcription	Spleen	Spleen
21	chr2:145207400-145218800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:145207600-145210200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:145208400-145211200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:145208600-145210000	Weak transcription	Left Ventricle	heart
25	chr2:145208800-145210000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:145208800-145210000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:145208800-145216200	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:145209000-145210000	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:145209200-145210000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:145209200-145210200	Enhancers	Fetal Stomach	stomach
31	chr2:145209200-145214200	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:145209200-145221000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:145209400-145210000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr2:145209400-145210000	Enhancers	Primary B cells from cord blood	blood
35	chr2:145209400-145210000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:145209400-145210000	Enhancers	Fetal Kidney	kidney
37	chr2:145209400-145210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:145209400-145211200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:145209400-145213000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:145209600-145210000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr2:145209600-145210000	Enhancers	Psoas Muscle	Psoas
42	chr2:145209600-145210000	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:145209600-145210000	Enhancers	A549	lung
44	chr2:145209600-145210200	Bivalent Enhancer	Liver	Liver
45	chr2:145209600-145210200	Flanking Active TSS	HSMMtube	muscle
46	chr2:145209600-145210400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr2:145209600-145210400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:145209600-145210400	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr2:145209600-145210600	Enhancers	Fetal Thymus	thymus
50	chr2:145209600-145211000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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