Variant report

Variant	rs240372
Chromosome Location	chr6:75927467-75927468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75920298..75925190-chr6:75927139..75929991,4	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11961252	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1203221	1.00[AMR][1000 genomes]
rs16886197	1.00[CEU][hapmap]
rs16886390	1.00[CEU][hapmap]
rs16886391	1.00[CEU][hapmap]
rs16886411	1.00[CEU][hapmap]
rs171262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171266	1.00[AMR][1000 genomes]
rs173279	1.00[AMR][1000 genomes]
rs181179	1.00[AMR][1000 genomes]
rs2300791	1.00[CEU][hapmap]
rs2300794	1.00[CEU][hapmap]
rs240361	1.00[YRI][hapmap]
rs240362	1.00[YRI][hapmap]
rs240364	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs240373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240391	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs240407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs240434	1.00[AMR][1000 genomes]
rs240436	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs240716	0.85[YRI][hapmap]
rs240718	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs240739	0.85[YRI][hapmap]
rs240740	0.85[YRI][hapmap]
rs240742	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2703709	1.00[AMR][1000 genomes]
rs2703713	1.00[AMR][1000 genomes]
rs2808192	1.00[AMR][1000 genomes]
rs2808205	1.00[AMR][1000 genomes]
rs2842449	1.00[AMR][1000 genomes]
rs2842454	1.00[AMR][1000 genomes]
rs2842460	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2951941	1.00[AMR][1000 genomes]
rs2998372	1.00[AMR][1000 genomes]
rs2998373	1.00[AMR][1000 genomes]
rs2998375	1.00[AMR][1000 genomes]
rs2998378	1.00[AMR][1000 genomes]
rs34807169	1.00[AMR][1000 genomes]
rs3822870	1.00[CEU][hapmap]
rs41266763	1.00[EUR][1000 genomes]
rs41269301	1.00[EUR][1000 genomes]
rs428406	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs471960	1.00[AMR][1000 genomes]
rs480888	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510507	1.00[EUR][1000 genomes]
rs545588	1.00[CEU][hapmap]
rs55862072	1.00[AMR][1000 genomes]
rs560250	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs578715	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs581649	1.00[EUR][1000 genomes]
rs58299431	1.00[AMR][1000 genomes]
rs58347254	1.00[AMR][1000 genomes]
rs588100	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs60256732	1.00[EUR][1000 genomes]
rs612266	0.85[YRI][hapmap]
rs658592	1.00[CEU][hapmap]
rs683406	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6927227	1.00[CEU][hapmap]
rs6931519	1.00[EUR][1000 genomes]
rs73462090	1.00[EUR][1000 genomes]
rs73747440	1.00[EUR][1000 genomes]
rs73751107	1.00[AMR][1000 genomes]
rs73751108	1.00[AMR][1000 genomes]
rs73751109	1.00[AMR][1000 genomes]
rs73751816	1.00[AMR][1000 genomes]
rs73751817	1.00[AMR][1000 genomes]
rs73751820	1.00[AMR][1000 genomes]
rs73751824	1.00[AMR][1000 genomes]
rs73751826	1.00[AMR][1000 genomes]
rs9447435	1.00[EUR][1000 genomes]
rs9447440	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75917600-75946600	Weak transcription	Lung	lung
2	chr6:75922600-75947000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:75922800-75927800	Weak transcription	Right Atrium	heart
4	chr6:75922800-75933200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:75923200-75932800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:75923600-75927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:75923800-75933000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:75924200-75932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:75925000-75932400	Weak transcription	Aorta	Aorta
10	chr6:75925200-75930400	Weak transcription	Liver	Liver
11	chr6:75926400-75928400	Enhancers	NHDF-Ad	bronchial
12	chr6:75926600-75927600	Enhancers	Colon Smooth Muscle	Colon
13	chr6:75926600-75927600	Enhancers	Stomach Mucosa	stomach
14	chr6:75926600-75927600	Enhancers	Osteobl	bone
15	chr6:75926600-75927800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:75926600-75927800	Enhancers	Adipose Nuclei	Adipose
17	chr6:75926600-75928000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:75926600-75928400	Enhancers	Fetal Lung	lung
19	chr6:75926600-75930600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:75926800-75927600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:75926800-75927800	Weak transcription	Left Ventricle	heart
22	chr6:75926800-75928000	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:75926800-75928000	Enhancers	NHLF	lung
24	chr6:75927000-75927600	Enhancers	HSMMtube	muscle
25	chr6:75927000-75928000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:75927000-75928000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:75927000-75928200	Enhancers	Ovary	ovary
28	chr6:75927200-75927600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:75927200-75927800	Enhancers	Fetal Heart	heart
30	chr6:75927200-75929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:75927400-75927600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:75927400-75933000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:75927400-75940200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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