Variant report

Variant	rs56783945
Chromosome Location	chr6:38316361-38316362
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	chr6:38310341..38313223-chr6:38315149..38317269,2	K562	blood:
2	chr6:38314373..38316447-chr6:38323843..38325764,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57211386	1.00[AMR][1000 genomes]
rs58907208	1.00[AMR][1000 genomes]
rs60148639	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60395126	1.00[AMR][1000 genomes]
rs60662487	1.00[AMR][1000 genomes]
rs61097716	1.00[AMR][1000 genomes]
rs61104643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420800	1.00[AMR][1000 genomes]
rs73420801	1.00[AMR][1000 genomes]
rs73422812	1.00[AMR][1000 genomes]
rs73422820	1.00[AMR][1000 genomes]
rs73422823	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422832	1.00[AMR][1000 genomes]
rs73422841	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763951	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:38291400-38317600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:38299800-38317800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:38301600-38324600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:38302000-38318200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:38304600-38323000	Weak transcription	Ovary	ovary
7	chr6:38305000-38317600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:38305000-38318000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:38307600-38318400	Weak transcription	Fetal Intestine Small	intestine
10	chr6:38309000-38318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:38309000-38319000	Weak transcription	Esophagus	oesophagus
12	chr6:38309800-38323400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:38310800-38326000	Weak transcription	Lung	lung
14	chr6:38311200-38317600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:38311400-38319000	Weak transcription	Left Ventricle	heart
16	chr6:38311400-38322000	Weak transcription	Primary B cells from cord blood	blood
17	chr6:38312000-38326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:38313200-38321400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:38313400-38316400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:38313400-38316400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:38313400-38316400	Enhancers	NH-A	brain
22	chr6:38313600-38316800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:38313800-38325800	Weak transcription	Psoas Muscle	Psoas
24	chr6:38313800-38331200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:38314000-38319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:38314200-38319400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:38314600-38318400	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:38314800-38317400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:38314800-38317400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:38314800-38317400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:38314800-38317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:38314800-38317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:38314800-38318000	Weak transcription	HSMM	muscle
34	chr6:38314800-38325800	Weak transcription	Right Atrium	heart
35	chr6:38315000-38317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:38315000-38317600	Weak transcription	NHLF	lung
37	chr6:38315000-38317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:38315000-38318000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:38315000-38318200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:38315200-38318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:38315200-38325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:38315400-38316400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr6:38315400-38317200	Weak transcription	Osteobl	bone
44	chr6:38315400-38317400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:38315400-38317400	Weak transcription	NHDF-Ad	bronchial
46	chr6:38315800-38316400	Enhancers	Brain Anterior Caudate	brain
47	chr6:38315800-38316600	Enhancers	Brain Hippocampus Middle	brain
48	chr6:38315800-38316800	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:38315800-38316800	Enhancers	Brain Substantia Nigra	brain
50	chr6:38315800-38317000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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