Variant report

Variant	rs7750786
Chromosome Location	chr6:143999421-143999422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143998295..144000747-chr6:144385501..144387723,2	K562	blood:
2	chr6:143997590..144001098-chr6:144164062..144165676,3	K562	blood:
3	chr6:143998944..144000506-chr6:144415343..144418005,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction
ENSG00000169976	Chromatin interaction
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56088548	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58309086	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901574	1.00[AMR][1000 genomes]
rs6909556	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778644	0.85[AMR][1000 genomes]
rs73778646	1.00[AMR][1000 genomes]
rs73778651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778656	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778659	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753075	1.00[AMR][1000 genomes]
rs7755210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143997600-144000400	Active TSS	A549	lung
2	chr6:143997600-144001800	Active TSS	Aorta	Aorta
3	chr6:143998200-144002800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:143998400-144001600	Active TSS	Fetal Muscle Trunk	muscle
5	chr6:143998400-144001800	Active TSS	Fetal Muscle Leg	muscle
6	chr6:143998600-143999600	Active TSS	Primary T cells from cord blood	blood
7	chr6:143998600-143999600	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:143998600-143999800	Active TSS	Primary hematopoietic stem cells	blood
9	chr6:143998600-144000000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:143998600-144000200	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:143998600-144000200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr6:143998600-144000200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr6:143998600-144000200	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr6:143998600-144000400	Active TSS	Colon Smooth Muscle	Colon
15	chr6:143998600-144000400	Active TSS	NH-A	brain
16	chr6:143998600-144000600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:143998600-144000600	Active TSS	Rectal Smooth Muscle	rectum
18	chr6:143998600-144000800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:143998600-144001000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:143998600-144001200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:143998600-144001400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:143998600-144001400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:143998600-144001400	Active TSS	Fetal Kidney	kidney
24	chr6:143998600-144001600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:143998600-144001600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:143998600-144001800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:143998600-144002000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:143998600-144002000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:143998600-144002000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:143998600-144002000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:143998600-144002000	Active TSS	Right Ventricle	heart
32	chr6:143998600-144002000	Active TSS	NHDF-Ad	bronchial
33	chr6:143998600-144002200	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:143998600-144002400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:143998800-143999600	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:143998800-143999600	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:143998800-143999600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:143998800-143999600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:143998800-143999600	Active TSS	Brain Anterior Caudate	brain
40	chr6:143998800-143999800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr6:143998800-143999800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
42	chr6:143998800-144000000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:143998800-144000000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:143998800-144000000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr6:143998800-144000000	Bivalent/Poised TSS	Thymus	Thymus
46	chr6:143998800-144000200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:143998800-144000200	Active TSS	Adipose Nuclei	Adipose
48	chr6:143998800-144000200	Active TSS	Liver	Liver
49	chr6:143998800-144000200	Active TSS	Brain Hippocampus Middle	brain
50	chr6:143998800-144000200	Active TSS	Fetal Intestine Large	intestine

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