Variant report

Variant	rs61445407
Chromosome Location	chr1:214777977-214777978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214777666..214779180-chr1:214780715..214782314,2	K562	blood:
2	chr1:214777011..214779791-chr1:214784551..214787409,3	K562	blood:

Variant related genes	Relation type
ENSG00000250536	Chromatin interaction
ENSG00000224584	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11120366	1.00[EUR][1000 genomes]
rs17023266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41277186	0.94[AFR][1000 genomes]
rs61732022	0.82[EUR][1000 genomes]
rs61732031	0.82[EUR][1000 genomes]
rs74140210	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533166	0.82[EUR][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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214775800-214778000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:214775800-214778000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:214775800-214778000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:214775800-214778000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:214775800-214778000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:214775800-214778200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:214775800-214778200	Active TSS	HSMM	muscle
8	chr1:214775800-214778600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:214775800-214778600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:214776000-214778200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:214776000-214778600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:214776000-214778600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:214776000-214778600	Active TSS	GM12878-XiMat	blood
14	chr1:214776200-214778000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:214776200-214778200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:214776200-214778200	Active TSS	Fetal Kidney	kidney
17	chr1:214776400-214778000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:214776400-214778400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:214776600-214778200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:214776800-214778200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:214777000-214778000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:214777000-214778000	Flanking Active TSS	Fetal Stomach	stomach
23	chr1:214777000-214778000	Flanking Active TSS	Thymus	Thymus
24	chr1:214777000-214778000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:214777000-214778400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:214777000-214778400	Flanking Active TSS	Osteobl	bone
27	chr1:214777200-214778000	Enhancers	Fetal Brain Male	brain
28	chr1:214777200-214778200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:214777200-214778200	Flanking Active TSS	NH-A	brain
30	chr1:214777200-214778400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:214777200-214778600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr1:214777400-214778000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:214777400-214778000	Active TSS	Primary T cells from cord blood	blood
35	chr1:214777400-214778200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:214777400-214778200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:214777400-214778200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:214777400-214778200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:214777400-214778200	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:214777400-214778200	Flanking Active TSS	NHLF	lung
41	chr1:214777400-214778400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:214777400-214778400	Flanking Active TSS	NHEK	skin
43	chr1:214777400-214778600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:214777400-214778800	Flanking Active TSS	HUVEC	blood vessel
45	chr1:214777600-214778000	Enhancers	Primary B cells from cord blood	blood
46	chr1:214777600-214778200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:214777600-214778200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:214777600-214778200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:214777600-214778200	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:214777600-214778200	Flanking Active TSS	HepG2	liver

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