Variant report

Variant	rs16935975
Chromosome Location	chr11:18981117-18981118
allele	C/T
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	GATA3	chr11:18981100-18981298	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000254738	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11024911	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11024913	1.00[YRI][hapmap]
rs11819961	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824621	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs12272200	0.83[AMR][1000 genomes]
rs12281200	0.83[AMR][1000 genomes]
rs12288435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288559	1.00[YRI][hapmap]
rs12295446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483104	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483105	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16930085	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1812731	0.83[AMR][1000 genomes]
rs7122804	0.83[AMR][1000 genomes]
rs7122972	0.83[AMR][1000 genomes]
rs7123103	0.83[AMR][1000 genomes]
rs7123138	0.83[AMR][1000 genomes]
rs7123184	0.83[AMR][1000 genomes]
rs7123440	0.83[AMR][1000 genomes]
rs7123502	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2758257	chr11:18818729-19082068	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759806	chr11:18818729-19082068	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428250	chr11:18818729-19082068	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv832082	chr11:18889979-19047994	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1799332	chr11:18902249-18983881	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1802731	chr11:18909383-18994195	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1826880	chr11:18909383-18994195	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv12303	chr11:18925223-18999313	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1814813	chr11:18925568-18985950	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1792746	chr11:18926153-18992933	Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv975889	chr11:18926162-18995219	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv7697	chr11:18927781-18981890	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv2757426	chr11:18929815-18982634	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2750991	chr11:18929815-18982634	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv430326	chr11:18929815-18982634	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1833514	chr11:18929968-18991262	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv33835	chr11:18932677-18987697	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1851441	chr11:18934483-18992933	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1793084	chr11:18937433-18996477	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv897029	chr11:18941110-18981648	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv553654	chr11:18949220-18981882	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv2751020	chr11:18949220-18984395	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv3421993	chr11:18963832-18986373	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
25	esv3521085	chr11:18963845-18986316	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
26	esv5259	chr11:18963906-18986309	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
27	esv3521088	chr11:18963948-18986316	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
28	esv3521087	chr11:18963948-18986342	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
29	esv3334850	chr11:18974108-18989941	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv1831815	chr11:18978785-18993133	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18979400-18981200	Enhancers	HMEC	breast
2	chr11:18979400-18981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:18979600-18981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:18980400-18981400	Enhancers	NHEK	skin
5	chr11:18980800-18981200	Enhancers	H9 Cell Line	embryonic stem cell

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