Variant report

Variant	rs4936531
Chromosome Location	chr11:120482784-120482785
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120433772..120435610-chr11:120482758..120484609,2	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1317176	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17124050	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17124061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17124103	1.00[AFR][1000 genomes]
rs1815896	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2000871	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4245038	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4935744	0.81[ASN][1000 genomes]
rs4936524	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4936527	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4936530	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73590044	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120478800-120484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:120479200-120483600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:120479800-120484000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:120479800-120484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:120480000-120483400	Weak transcription	Fetal Intestine Large	intestine
6	chr11:120480000-120483400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:120480200-120483400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:120480200-120483400	Weak transcription	Ovary	ovary
9	chr11:120480200-120484600	Weak transcription	Right Atrium	heart
10	chr11:120480200-120487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:120480200-120489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:120480800-120482800	Enhancers	Spleen	Spleen
13	chr11:120481200-120483200	Enhancers	GM12878-XiMat	blood
14	chr11:120481400-120483400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120481400-120483600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:120481400-120483600	Weak transcription	Pancreas	Pancrea
17	chr11:120481400-120483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:120481400-120484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:120481600-120483600	Weak transcription	Fetal Stomach	stomach
20	chr11:120481800-120483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:120482000-120482800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:120482000-120483400	Weak transcription	HUVEC	blood vessel
23	chr11:120482000-120483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:120482200-120482800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:120482400-120482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:120482600-120482800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:120482600-120483400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120482600-120484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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