Variant report

Variant	rs2755092
Chromosome Location	chr1:226164350-226164351
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226162509..226165639-chr1:226249685..226252851,4	K562	blood:
2	chr1:226162239..226166134-chr1:226308775..226311257,3	K562	blood:
3	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
4	chr1:226164266..226167338-chr1:226248609..226251593,3	MCF-7	breast:
5	chr1:225961965..225964037-chr1:226163126..226165079,2	K562	blood:
6	chr1:225964404..225966277-chr1:226163691..226165209,2	MCF-7	breast:
7	chr1:226163855..226167681-chr1:226167885..226170495,3	K562	blood:
8	chr1:226111448..226113003-chr1:226162555..226164557,2	MCF-7	breast:
9	chr1:226163729..226166134-chr1:226308775..226311052,3	K562	blood:
10	chr1:226159521..226162180-chr1:226162227..226164425,2	K562	blood:
11	chr1:225661996..225663242-chr1:226163233..226164619,8	MCF-7	breast:
12	chr1:226162204..226165868-chr1:226249705..226252977,5	K562	blood:
13	chr1:225662226..225663837-chr1:226162713..226165257,2	K562	blood:
14	chr1:226149806..226151072-chr1:226163773..226164380,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11579912	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885254	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1998273	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2755097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755100	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2816323	0.84[EUR][1000 genomes]
rs2816324	0.84[EUR][1000 genomes]
rs2816326	0.83[EUR][1000 genomes]
rs2816328	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67523369	0.89[EUR][1000 genomes]
rs72757041	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73100512	0.89[EUR][1000 genomes]
rs74148404	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226156400-226165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226156800-226167200	Weak transcription	HepG2	liver
4	chr1:226156800-226167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226157000-226165000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:226157000-226167200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226157000-226167400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226157800-226165200	Weak transcription	Spleen	Spleen
9	chr1:226158800-226165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:226160000-226164600	Weak transcription	Thymus	Thymus
11	chr1:226161000-226165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:226161000-226165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:226161200-226164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:226161200-226165400	Weak transcription	K562	blood
15	chr1:226161200-226167200	Weak transcription	Fetal Kidney	kidney
16	chr1:226161200-226167200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:226162400-226165000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:226162400-226173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:226162600-226164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:226162800-226165400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:226163000-226165400	Weak transcription	HSMM	muscle
22	chr1:226163200-226167200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:226163400-226165000	Weak transcription	Lung	lung
24	chr1:226163400-226165200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:226163400-226165800	Weak transcription	HSMMtube	muscle
26	chr1:226163400-226166200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:226163600-226165000	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:226163600-226165200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:226163600-226165200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:226163600-226165400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:226163600-226175800	Weak transcription	Aorta	Aorta
32	chr1:226163800-226164400	Weak transcription	Primary B cells from cord blood	blood
33	chr1:226163800-226164600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:226163800-226164600	Weak transcription	Placenta	Placenta
35	chr1:226163800-226165000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:226163800-226165000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:226163800-226165200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:226163800-226165200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:226163800-226165200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:226163800-226165200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:226163800-226165200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:226163800-226165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:226163800-226165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:226163800-226165200	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:226163800-226165200	Weak transcription	Fetal Thymus	thymus
46	chr1:226163800-226165200	Weak transcription	Ovary	ovary
47	chr1:226163800-226165200	Weak transcription	Osteobl	bone
48	chr1:226163800-226165400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:226163800-226165400	Weak transcription	Liver	Liver
50	chr1:226163800-226165400	Weak transcription	Left Ventricle	heart

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