Variant report

Variant	rs17007512
Chromosome Location	chr4:84777162-84777163
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	chr4:84774361..84778567-chr4:84785473..84788840,3	K562	blood:
2	chr4:84776348..84779018-chr4:84780944..84782623,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1505793	1.00[AMR][1000 genomes]
rs17007384	1.00[AMR][1000 genomes]
rs17007482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2868840	1.00[AMR][1000 genomes]
rs56402863	1.00[AMR][1000 genomes]
rs59457329	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59951019	1.00[AMR][1000 genomes]
rs72935222	1.00[AMR][1000 genomes]
rs72935226	1.00[AMR][1000 genomes]
rs72935254	1.00[AMR][1000 genomes]
rs72935275	1.00[AMR][1000 genomes]
rs72935278	1.00[AMR][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	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879513	chr4:84612373-84905452	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84772000-84777600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:84773200-84778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:84773400-84779800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:84773800-84778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:84774000-84778000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:84775400-84777400	Enhancers	HSMM	muscle
7	chr4:84775400-84778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:84775600-84777200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:84775600-84777200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:84775600-84777200	Enhancers	NH-A	brain
11	chr4:84775600-84777200	Enhancers	NHDF-Ad	bronchial
12	chr4:84775600-84777800	Enhancers	Osteobl	bone
13	chr4:84775800-84777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:84775800-84777200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:84775800-84777200	Enhancers	HSMMtube	muscle
16	chr4:84776000-84777200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:84776000-84777400	Enhancers	HepG2	liver
18	chr4:84776200-84777200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:84776400-84778000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:84776600-84781200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:84776600-84785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:84776800-84780000	Enhancers	A549	lung
23	chr4:84776800-84781000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:84777000-84777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:84777000-84777200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:84777000-84778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:84777000-84778000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:84777000-84779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:84777000-84781600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:84777000-84781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:84777000-84786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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