Variant report

Variant	rs56379128
Chromosome Location	chr6:166837559-166837560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166832801..166835277-chr6:166837507..166839405,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16898917	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16898924	1.00[EUR][1000 genomes]
rs56171280	0.86[EUR][1000 genomes]
rs57032504	0.86[EUR][1000 genomes]
rs57106460	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58031677	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59373594	1.00[EUR][1000 genomes]
rs60789228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6923614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269236	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73269268	1.00[EUR][1000 genomes]
rs73269270	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9459669	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166821800-166838600	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr6:166822000-166838200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:166822200-166838600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:166822400-166838400	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:166822400-166838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:166822400-166838600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:166823600-166838000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:166824600-166844800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:166825000-166837600	Strong transcription	Adipose Nuclei	Adipose
12	chr6:166825000-166849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:166825200-166853000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
15	chr6:166826400-166837600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:166826600-166848800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:166827000-166873400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:166827600-166867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:166828200-166838400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:166829000-166838000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr6:166829200-166838600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:166829800-166838600	Strong transcription	Lung	lung
23	chr6:166829800-166843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:166829800-166845200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:166829800-166845600	Weak transcription	HSMMtube	muscle
26	chr6:166829800-166847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:166829800-166851800	Weak transcription	Fetal Brain Male	brain
28	chr6:166830000-166838400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:166830000-166845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:166830000-166866600	Weak transcription	Fetal Intestine Large	intestine
31	chr6:166830200-166838400	Strong transcription	Gastric	stomach
32	chr6:166830400-166838200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:166830400-166838200	Strong transcription	Spleen	Spleen
34	chr6:166830800-166838600	Strong transcription	Left Ventricle	heart
35	chr6:166831800-166838600	Strong transcription	Right Ventricle	heart
36	chr6:166833200-166864400	Weak transcription	Fetal Kidney	kidney
37	chr6:166833200-166879000	Weak transcription	NH-A	brain
38	chr6:166833400-166854800	Weak transcription	Primary B cells from cord blood	blood
39	chr6:166833400-166879000	Weak transcription	HSMM	muscle
40	chr6:166833600-166843200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:166833600-166843800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:166833600-166843800	Weak transcription	Fetal Intestine Small	intestine
43	chr6:166833600-166845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:166833600-166859600	Weak transcription	HMEC	breast
45	chr6:166833800-166838600	Genic enhancers	Brain Cingulate Gyrus	brain
46	chr6:166834000-166866400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:166834200-166863800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:166834400-166838600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:166834600-166862000	Weak transcription	NHDF-Ad	bronchial

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