Variant report

Variant	rs73069748
Chromosome Location	chr7:16778484-16778485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16772079..16775228-chr7:16777244..16779485,3	K562	blood:
2	chr7:16777697..16779823-chr7:16785508..16787486,2	K562	blood:
3	chr7:16776463..16781643-chr7:16783792..16791142,8	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1149516	1.00[EUR][1000 genomes]
rs1149517	1.00[EUR][1000 genomes]
rs1149518	1.00[EUR][1000 genomes]
rs1149520	1.00[EUR][1000 genomes]
rs1149521	1.00[EUR][1000 genomes]
rs1149523	1.00[EUR][1000 genomes]
rs1149525	1.00[EUR][1000 genomes]
rs2177784	1.00[EUR][1000 genomes]
rs55722030	1.00[EUR][1000 genomes]
rs56302012	1.00[EUR][1000 genomes]
rs57776102	1.00[EUR][1000 genomes]
rs6968207	1.00[EUR][1000 genomes]
rs706054	1.00[EUR][1000 genomes]
rs706056	1.00[EUR][1000 genomes]
rs706058	1.00[EUR][1000 genomes]
rs706060	1.00[EUR][1000 genomes]
rs706066	1.00[EUR][1000 genomes]
rs706067	1.00[EUR][1000 genomes]
rs706068	1.00[EUR][1000 genomes]
rs706069	1.00[EUR][1000 genomes]
rs73067698	1.00[EUR][1000 genomes]
rs73069705	1.00[EUR][1000 genomes]
rs73069707	1.00[EUR][1000 genomes]
rs73069710	1.00[EUR][1000 genomes]
rs73069712	1.00[EUR][1000 genomes]
rs73069719	1.00[EUR][1000 genomes]
rs73069720	1.00[EUR][1000 genomes]
rs73069724	1.00[EUR][1000 genomes]
rs73069745	1.00[EUR][1000 genomes]
rs73069757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818492	1.00[EUR][1000 genomes]
rs818807	1.00[EUR][1000 genomes]
rs818808	1.00[EUR][1000 genomes]
rs819003	1.00[EUR][1000 genomes]
rs866565	1.00[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16749400-16779000	Weak transcription	Left Ventricle	heart
2	chr7:16759600-16779600	Weak transcription	A549	lung
3	chr7:16771200-16788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:16774200-16779400	Weak transcription	Hela-S3	cervix
5	chr7:16774400-16779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:16774800-16779400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:16775400-16779400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:16775400-16779800	Weak transcription	Stomach Mucosa	stomach
9	chr7:16775600-16779000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:16777600-16785000	Enhancers	K562	blood
11	chr7:16777800-16778600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:16777800-16782800	Enhancers	Fetal Intestine Small	intestine
13	chr7:16778000-16784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:16778200-16780000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:16778400-16779400	Weak transcription	Fetal Intestine Large	intestine

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