Variant report

Variant	rs41383648
Chromosome Location	chr8:6645590-6645591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6638978..6641518-chr8:6642662..6645828,3	K562	blood:
2	chr8:6620981..6623337-chr8:6643154..6645931,2	K562	blood:
3	chr8:6645077..6646999-chr8:6650746..6652872,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5743424	1.00[AMR][1000 genomes]
rs5743431	1.00[AMR][1000 genomes]
rs5743448	1.00[AMR][1000 genomes]
rs5743452	1.00[AMR][1000 genomes]
rs5743453	1.00[AMR][1000 genomes]
rs5743468	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS 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	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
11	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
16	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
18	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv1015563	chr8:6596171-6730826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
20	nsv539432	chr8:6596171-6730826	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
21	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
22	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6623000-6654400	Weak transcription	Right Atrium	heart
2	chr8:6638200-6648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6644200-6646000	Enhancers	Fetal Brain Male	brain
4	chr8:6644400-6646200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:6644400-6646200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:6644600-6646200	Enhancers	Fetal Stomach	stomach
7	chr8:6644800-6645600	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:6645000-6645600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:6645000-6645600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:6645000-6645600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:6645000-6645600	Enhancers	Brain Germinal Matrix	brain
12	chr8:6645000-6645600	Enhancers	Brain Hippocampus Middle	brain
13	chr8:6645000-6645600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:6645000-6645600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:6645000-6645600	Enhancers	Right Ventricle	heart
16	chr8:6645000-6645600	Enhancers	HSMM	muscle
17	chr8:6645000-6645600	Flanking Active TSS	NH-A	brain
18	chr8:6645000-6645600	Bivalent Enhancer	Osteobl	bone
19	chr8:6645000-6645800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:6645000-6645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:6645000-6645800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:6645000-6645800	Enhancers	Adipose Nuclei	Adipose
23	chr8:6645000-6645800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr8:6645000-6645800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
25	chr8:6645000-6645800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:6645000-6645800	Enhancers	HMEC	breast
27	chr8:6645000-6646000	Enhancers	Fetal Heart	heart
28	chr8:6645000-6646000	Enhancers	Fetal Lung	lung
29	chr8:6645000-6646000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:6645000-6646200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:6645000-6646200	Enhancers	Fetal Muscle Leg	muscle
32	chr8:6645000-6646200	Enhancers	HUVEC	blood vessel
33	chr8:6645200-6645600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:6645200-6645600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:6645200-6645600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr8:6645200-6645600	Enhancers	Esophagus	oesophagus
37	chr8:6645200-6645600	Enhancers	Fetal Intestine Small	intestine
38	chr8:6645200-6645600	Enhancers	Left Ventricle	heart
39	chr8:6645200-6645600	Enhancers	Psoas Muscle	Psoas
40	chr8:6645200-6645800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:6645200-6645800	Enhancers	Brain Anterior Caudate	brain
42	chr8:6645200-6645800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr8:6645200-6645800	Enhancers	Lung	lung
44	chr8:6645200-6645800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr8:6645200-6645800	Enhancers	NHDF-Ad	bronchial
46	chr8:6645200-6646200	Enhancers	Aorta	Aorta
47	chr8:6645400-6645600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:6645400-6645600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:6645400-6645600	Enhancers	Fetal Brain Female	brain
50	chr8:6645400-6645600	Enhancers	Pancreas	Pancrea

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