Variant report

Variant	rs7930224
Chromosome Location	chr11:71278162-71278163
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	HEY1	chr11:71278048-71278652	HepG2	liver:	n/a	n/a
2	FOSL2	chr11:71278101-71278581	HepG2	liver:	n/a	n/a
3	SP1	chr11:71278067-71278519	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248903	TF binding region
ENSG00000172890	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10751114	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10792770	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10792777	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792778	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792779	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10898282	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10898286	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10898288	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10898289	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10898290	0.81[AMR][1000 genomes]
rs10898293	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11234148	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11234149	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11604725	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12792437	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2663	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4129753	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4129754	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7128806	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358341	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7949169	0.83[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv825988	chr11:71277262-71294289	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv975200	chr11:71277624-71280675	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71276600-71278200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:71277000-71279200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:71277200-71278200	Enhancers	Spleen	Spleen
4	chr11:71277200-71280400	Enhancers	Adipose Nuclei	Adipose
5	chr11:71277400-71278400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:71277400-71279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:71277600-71278200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:71277600-71279000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:71277600-71279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:71277600-71279800	Weak transcription	Left Ventricle	heart
11	chr11:71277600-71280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:71277600-71281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:71277600-71282800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:71277600-71290400	Weak transcription	Right Atrium	heart
15	chr11:71277800-71278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:71278000-71278800	Enhancers	HepG2	liver
17	chr11:71278000-71279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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