Variant report

Variant	rs848654
Chromosome Location	chr7:101277516-101277517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr7:101277436-101277674	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MYL10	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10239715	1.00[ASN][1000 genomes]
rs10269590	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10270145	1.00[ASN][1000 genomes]
rs10278534	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447812	1.00[ASN][1000 genomes]
rs11772618	1.00[ASN][1000 genomes]
rs12667267	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619382	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636440	1.00[ASN][1000 genomes]
rs1636441	1.00[ASN][1000 genomes]
rs1636443	1.00[ASN][1000 genomes]
rs1722218	1.00[ASN][1000 genomes]
rs1722224	1.00[ASN][1000 genomes]
rs1722226	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1722229	1.00[ASN][1000 genomes]
rs2529183	1.00[ASN][1000 genomes]
rs4263675	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276617	1.00[ASN][1000 genomes]
rs4436052	1.00[ASN][1000 genomes]
rs4490765	1.00[ASN][1000 genomes]
rs4535653	1.00[ASN][1000 genomes]
rs4602818	1.00[ASN][1000 genomes]
rs4642556	1.00[ASN][1000 genomes]
rs4727503	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727504	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727505	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727506	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729747	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381219	1.00[ASN][1000 genomes]
rs62466309	1.00[ASN][1000 genomes]
rs62466310	1.00[ASN][1000 genomes]
rs62466312	1.00[ASN][1000 genomes]
rs62466343	1.00[ASN][1000 genomes]
rs62466344	1.00[ASN][1000 genomes]
rs62466345	1.00[ASN][1000 genomes]
rs62466346	1.00[ASN][1000 genomes]
rs62466347	1.00[ASN][1000 genomes]
rs62466348	1.00[ASN][1000 genomes]
rs62466349	1.00[ASN][1000 genomes]
rs62466351	1.00[ASN][1000 genomes]
rs62466354	1.00[ASN][1000 genomes]
rs62466355	1.00[ASN][1000 genomes]
rs62466356	1.00[ASN][1000 genomes]
rs62466357	1.00[ASN][1000 genomes]
rs62466358	1.00[ASN][1000 genomes]
rs62467460	1.00[ASN][1000 genomes]
rs62467463	1.00[ASN][1000 genomes]
rs62467464	1.00[ASN][1000 genomes]
rs62467465	1.00[ASN][1000 genomes]
rs62467466	1.00[ASN][1000 genomes]
rs62467468	1.00[ASN][1000 genomes]
rs62467469	1.00[ASN][1000 genomes]
rs6957219	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960571	1.00[ASN][1000 genomes]
rs757820	1.00[ASN][1000 genomes]
rs757821	1.00[ASN][1000 genomes]
rs757822	1.00[ASN][1000 genomes]
rs757823	1.00[ASN][1000 genomes]
rs757824	1.00[ASN][1000 genomes]
rs7785622	1.00[ASN][1000 genomes]
rs7799319	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809926	1.00[ASN][1000 genomes]
rs7811421	1.00[ASN][1000 genomes]
rs848644	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848645	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848646	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101270000-101279600	Enhancers	Fetal Muscle Leg	muscle
2	chr7:101272000-101279600	Enhancers	Fetal Muscle Trunk	muscle
3	chr7:101273800-101280200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:101274200-101278800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:101275200-101278400	Weak transcription	Psoas Muscle	Psoas
6	chr7:101275200-101278800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:101275200-101278800	Weak transcription	HUVEC	blood vessel
8	chr7:101275400-101278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:101276200-101278000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:101276600-101281000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:101276800-101277600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101276800-101277800	Enhancers	HSMM	muscle
13	chr7:101277000-101277600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:101277000-101277800	Enhancers	HSMMtube	muscle
15	chr7:101277200-101278800	Weak transcription	Spleen	Spleen
16	chr7:101277400-101277600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:101277400-101278800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:101277400-101280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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