Variant report

Variant	rs3738797
Chromosome Location	chr1:226373997-226373998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226295550..226298881-chr1:226372449..226374303,3	K562	blood:
4	chr1:226343198..226345651-chr1:226370784..226374218,4	K562	blood:
5	chr1:226365447..226367440-chr1:226372649..226374365,2	K562	blood:
6	chr1:226343233..226345651-chr1:226372264..226374218,2	K562	blood:

Variant related genes	Relation type
ENSG00000223570	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16845638	0.95[ASN][1000 genomes]
rs2377018	0.97[ASN][1000 genomes]
rs3845505	0.96[ASN][1000 genomes]
rs56079566	0.94[ASN][1000 genomes]
rs61835253	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:226372200-226374800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
4	chr1:226372400-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:226372400-226375000	Active TSS	NHLF	lung
6	chr1:226372600-226374000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:226372600-226374200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:226372600-226374200	Active TSS	Right Atrium	heart
9	chr1:226372600-226374600	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:226372600-226374800	Active TSS	HSMMtube	muscle
11	chr1:226372600-226374800	Active TSS	Osteobl	bone
12	chr1:226372600-226375000	Active TSS	HSMM	muscle
13	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
15	chr1:226372800-226374000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:226372800-226374000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:226372800-226374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:226372800-226374200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:226372800-226374800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:226372800-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:226372800-226374800	Active TSS	Fetal Kidney	kidney
22	chr1:226372800-226375000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:226372800-226375000	Active TSS	Left Ventricle	heart
24	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
26	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:226373000-226374000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:226373000-226374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:226373000-226374000	Flanking Active TSS	Fetal Thymus	thymus
30	chr1:226373000-226374000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:226373000-226374600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:226373000-226374600	Active TSS	Stomach Mucosa	stomach
33	chr1:226373000-226374800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:226373000-226374800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:226373000-226374800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:226373000-226374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:226373000-226374800	Active TSS	Placenta	Placenta
38	chr1:226373000-226374800	Active TSS	Pancreas	Pancrea
39	chr1:226373000-226375000	Active TSS	Aorta	Aorta
40	chr1:226373000-226375000	Active TSS	Colonic Mucosa	Colon
41	chr1:226373000-226375000	Active TSS	Fetal Stomach	stomach
42	chr1:226373000-226375000	Active TSS	Ovary	ovary
43	chr1:226373000-226375000	Active TSS	Right Ventricle	heart
44	chr1:226373000-226375000	Bivalent/Poised TSS	HepG2	liver
45	chr1:226373000-226375200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:226373000-226375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:226373000-226375200	Active TSS	Fetal Intestine Small	intestine
48	chr1:226373000-226375200	Active TSS	Fetal Muscle Leg	muscle
49	chr1:226373200-226374000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:226373200-226374000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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