Variant report

Variant	rs10222693
Chromosome Location	chr4:79085997-79085998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79085535..79087352-chr4:79088663..79090965,2	K562	blood:
2	chr4:79080375..79082514-chr4:79085692..79087997,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10008346	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10009577	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10014790	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10020175	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10026071	0.90[EUR][1000 genomes]
rs10027675	0.90[EUR][1000 genomes]
rs10029277	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10032397	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10222691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10440393	0.95[EUR][1000 genomes]
rs10518187	0.90[EUR][1000 genomes]
rs17002926	0.90[EUR][1000 genomes]
rs17002927	0.90[EUR][1000 genomes]
rs17002937	0.90[EUR][1000 genomes]
rs17002965	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17002971	0.98[EUR][1000 genomes]
rs17002972	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17002978	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17453030	0.90[EUR][1000 genomes]
rs28433896	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437781	0.90[EUR][1000 genomes]
rs28438642	0.98[EUR][1000 genomes]
rs28624340	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28627481	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28640590	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2867009	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673365	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728167	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28794638	0.93[EUR][1000 genomes]
rs28825502	0.90[EUR][1000 genomes]
rs56069998	0.95[EUR][1000 genomes]
rs56209110	0.95[EUR][1000 genomes]
rs56346346	0.90[EUR][1000 genomes]
rs56404216	0.90[EUR][1000 genomes]
rs72860675	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72860700	1.00[EUR][1000 genomes]
rs9307350	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv829977	chr4:79082318-79110300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79071400-79096600	Weak transcription	Pancreas	Pancrea
2	chr4:79078200-79094200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79078400-79095600	Weak transcription	Psoas Muscle	Psoas
4	chr4:79082400-79086600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:79083600-79086200	Enhancers	HepG2	liver
6	chr4:79083800-79093000	Weak transcription	Fetal Heart	heart
7	chr4:79084000-79086600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:79084200-79086200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:79084200-79086400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:79084200-79091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:79084200-79091400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:79084200-79091800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:79084200-79093000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:79084400-79086000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:79085000-79093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:79085200-79086000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:79085200-79087400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:79085200-79087400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:79085400-79086800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:79085400-79087400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:79085400-79087800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:79085400-79088600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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