Variant report

Variant	rs55932143
Chromosome Location	chr4:8054344-8054345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10020078	1.00[ASN][1000 genomes]
rs10020169	1.00[ASN][1000 genomes]
rs16841640	1.00[ASN][1000 genomes]
rs28416479	1.00[ASN][1000 genomes]
rs28535319	1.00[ASN][1000 genomes]
rs4696741	1.00[ASN][1000 genomes]
rs56192722	1.00[ASN][1000 genomes]
rs57007308	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57147516	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58061467	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58454418	1.00[ASN][1000 genomes]
rs58733360	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59070213	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59525928	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624370	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074034	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73074035	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73074036	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73074038	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73074039	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv878587	chr4:8031471-8075134	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878588	chr4:8034772-8070793	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv878589	chr4:8034772-8089598	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878590	chr4:8047973-8075134	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8039200-8057000	Weak transcription	Gastric	stomach
2	chr4:8039400-8056600	Weak transcription	Aorta	Aorta
3	chr4:8047800-8054800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8048600-8054800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:8049600-8054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:8051200-8054600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:8051200-8054600	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:8051600-8054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:8051600-8054600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:8051600-8054600	Enhancers	Brain Anterior Caudate	brain
11	chr4:8052000-8054800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:8052000-8054800	Enhancers	Brain Hippocampus Middle	brain
13	chr4:8052000-8055000	Enhancers	Brain Angular Gyrus	brain
14	chr4:8052600-8056000	Weak transcription	Esophagus	oesophagus
15	chr4:8052800-8055600	Weak transcription	Lung	lung
16	chr4:8053000-8055200	Enhancers	HepG2	liver
17	chr4:8053000-8056200	Weak transcription	Right Atrium	heart
18	chr4:8053000-8057000	Weak transcription	Pancreas	Pancrea
19	chr4:8053000-8065000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:8053000-8065200	Weak transcription	Right Ventricle	heart
21	chr4:8053600-8055000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:8053600-8055000	Enhancers	Brain Substantia Nigra	brain
23	chr4:8053600-8056000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:8053600-8065000	Weak transcription	Brain Germinal Matrix	brain
25	chr4:8053600-8065400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:8053800-8054600	Enhancers	Psoas Muscle	Psoas
27	chr4:8053800-8054800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:8053800-8054800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:8053800-8055400	Weak transcription	Fetal Heart	heart
30	chr4:8053800-8057400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:8053800-8062600	Weak transcription	Fetal Brain Female	brain
32	chr4:8054000-8054400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:8054000-8056000	Strong transcription	Spleen	Spleen
34	chr4:8054200-8054600	Enhancers	HSMMtube	muscle
35	chr4:8054200-8055800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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