Variant report

Variant	rs55751114
Chromosome Location	chr2:10688836-10688837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
2	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
3	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
4	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55892137	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56168553	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56259599	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873652	chr2:10627860-10688969	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv873653	chr2:10627860-10688969	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv873654	chr2:10655141-10698364	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv873655	chr2:10656284-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv873656	chr2:10661047-10688969	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv873659	chr2:10664481-10688969	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv873660	chr2:10665979-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv519963	chr2:10684391-10688969	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10686800-10689200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:10686800-10689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:10686800-10689800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:10687000-10689600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:10687000-10689800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10687000-10691000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:10687200-10690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:10687200-10690000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10687200-10691400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:10687400-10689000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:10687600-10689000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr2:10687600-10689000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:10687600-10689800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10687800-10689000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:10687800-10689000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr2:10687800-10689000	Bivalent Enhancer	Fetal Thymus	thymus
17	chr2:10687800-10689600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:10687800-10690600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:10688000-10689000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr2:10688000-10689200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:10688000-10689200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr2:10688000-10691800	Enhancers	Spleen	Spleen
23	chr2:10688200-10689000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10688200-10689000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:10688200-10689200	Weak transcription	Fetal Kidney	kidney
26	chr2:10688200-10690600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:10688200-10690800	Bivalent Enhancer	Placenta	Placenta
28	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:10688400-10689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:10688400-10689000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10688400-10689200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr2:10688400-10692200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:10688600-10689000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:10688600-10689200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr2:10688600-10689600	Enhancers	NHDF-Ad	bronchial
36	chr2:10688600-10689800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:10688600-10691200	Enhancers	HUVEC	blood vessel
38	chr2:10688800-10689000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:10688800-10689000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:10688800-10689000	Bivalent Enhancer	Fetal Brain Male	brain
41	chr2:10688800-10689000	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr2:10688800-10689200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:10688800-10689200	Bivalent Enhancer	Fetal Lung	lung
44	chr2:10688800-10689200	Bivalent Enhancer	Left Ventricle	heart
45	chr2:10688800-10689200	Enhancers	Lung	lung
46	chr2:10688800-10689200	Bivalent/Poised TSS	Osteobl	bone
47	chr2:10688800-10689400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10688800-10689600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr2:10688800-10689800	Enhancers	Pancreas	Pancrea
50	chr2:10688800-10690000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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