Variant report

Variant	rs57546317
Chromosome Location	chr4:127721164-127721165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs36190498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55673139	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55712703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55982855	1.00[AMR][1000 genomes]
rs56099729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56921171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57808410	1.00[AMR][1000 genomes]
rs58741453	1.00[EUR][1000 genomes]
rs59395244	1.00[EUR][1000 genomes]
rs59431933	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59551421	1.00[AMR][1000 genomes]
rs59596540	1.00[AMR][1000 genomes]
rs60128479	1.00[AMR][1000 genomes]
rs60309298	1.00[AMR][1000 genomes]
rs60537667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846097	1.00[AMR][1000 genomes]
rs73848006	1.00[AMR][1000 genomes]
rs73848011	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73848016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73848020	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73848024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73848027	1.00[EUR][1000 genomes]
rs9917914	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv818269	chr4:127700428-127727154	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127716200-127721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:127720400-127722400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:127720400-127722400	Enhancers	Fetal Lung	lung
5	chr4:127720600-127721200	Enhancers	HSMMtube	muscle
6	chr4:127720600-127721400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:127720600-127721400	Enhancers	HSMM	muscle
8	chr4:127720600-127721800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:127720600-127721800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:127720600-127722000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:127720600-127722000	Enhancers	NHDF-Ad	bronchial
12	chr4:127720600-127722200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:127720600-127722200	Enhancers	NHLF	lung
14	chr4:127720600-127722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:127720600-127722400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:127720800-127721400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:127720800-127721400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:127720800-127721800	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:127720800-127722200	Enhancers	Fetal Stomach	stomach
20	chr4:127720800-127722200	Enhancers	Osteobl	bone
21	chr4:127721000-127721400	Enhancers	K562	blood
22	chr4:127721000-127721600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:127721000-127721600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:127721000-127721800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:127721000-127721800	Enhancers	NHEK	skin
26	chr4:127721000-127722200	Enhancers	Fetal Heart	heart

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