Variant report

Variant	rs72803538
Chromosome Location	chr2:55788046-55788047
allele	A/G
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	CBX3	chr2:55787986-55788306	K562	blood:	n/a	n/a
2	CBX3	chr2:55788014-55788307	K562	blood:	n/a	n/a
3	SETDB1	chr2:55788030-55788394	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000212175	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55719329	1.00[EUR][1000 genomes]
rs56062543	1.00[EUR][1000 genomes]
rs56088561	1.00[EUR][1000 genomes]
rs72801537	1.00[EUR][1000 genomes]
rs72801576	1.00[EUR][1000 genomes]
rs72803512	1.00[EUR][1000 genomes]
rs72803549	1.00[EUR][1000 genomes]
rs72803593	1.00[EUR][1000 genomes]
rs72807626	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
2	chr2:55752600-55788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
4	chr2:55761000-55788200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:55769800-55788200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
8	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:55770800-55815800	Strong transcription	Liver	Liver
10	chr2:55771800-55788200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:55775200-55798000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr2:55776000-55789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:55776600-55788400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:55779400-55788200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:55779400-55792200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr2:55779400-55793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:55779400-55795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:55779400-55798200	Strong transcription	Placenta	Placenta
19	chr2:55779400-55801400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:55779600-55788200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:55779600-55793400	Strong transcription	Adipose Nuclei	Adipose
22	chr2:55779600-55797400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:55779600-55816200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:55780000-55788200	Strong transcription	Fetal Thymus	thymus
26	chr2:55780000-55791600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:55780000-55792200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:55780000-55792600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:55780000-55801400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:55780200-55792200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:55781000-55792000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:55781200-55792000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:55781200-55794200	Strong transcription	Fetal Lung	lung
34	chr2:55781400-55791200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:55781600-55788200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:55781600-55788800	Weak transcription	Fetal Kidney	kidney
37	chr2:55781600-55808800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:55782200-55797400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:55782800-55788200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:55782800-55788200	Strong transcription	GM12878-XiMat	blood
41	chr2:55783000-55789800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:55783000-55791800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:55783200-55788200	Strong transcription	Thymus	Thymus
44	chr2:55783200-55788600	Strong transcription	Primary T cells from cord blood	blood
45	chr2:55783400-55788400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:55783400-55792000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:55783600-55791000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:55783800-55788200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:55783800-55788200	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:55783800-55789800	Strong transcription	Spleen	Spleen

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