Variant report

Variant	rs6812049
Chromosome Location	chr4:79189395-79189396
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	chr4:79153666..79155870-chr4:79187424..79190153,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17003090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003102	0.87[AMR][1000 genomes]
rs17003104	0.87[AMR][1000 genomes]
rs17003105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003106	0.85[AMR][1000 genomes]
rs17003107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1825417	0.87[AMR][1000 genomes]
rs41391850	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55714031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55895609	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56323989	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58723665	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59429199	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59522692	0.87[AMR][1000 genomes]
rs61150533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834011	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6838026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839334	0.87[AMR][1000 genomes]
rs6840763	0.87[AMR][1000 genomes]
rs6855248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs728200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827911	0.85[AMR][1000 genomes]
rs73827912	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827913	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827922	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827934	0.87[AMR][1000 genomes]
rs73827935	0.87[AMR][1000 genomes]
rs73827943	0.87[AMR][1000 genomes]
rs73827946	0.85[AMR][1000 genomes]
rs73827948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7667557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682296	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7687027	0.87[AMR][1000 genomes]
rs7687406	0.87[AMR][1000 genomes]
rs7688218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7699637	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs994186	0.87[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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
6	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:79186000-79192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:79186200-79189600	Strong transcription	HepG2	liver
11	chr4:79187600-79192400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:79187600-79192600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr4:79187600-79193000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
15	chr4:79187800-79192400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:79187800-79197400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:79187800-79197600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney
19	chr4:79188000-79209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79188200-79190000	Strong transcription	Fetal Intestine Small	intestine
21	chr4:79188200-79193800	Weak transcription	HSMMtube	muscle
22	chr4:79188400-79189400	Enhancers	Fetal Lung	lung
23	chr4:79188400-79189800	Enhancers	Fetal Muscle Trunk	muscle
24	chr4:79188400-79190000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:79188400-79197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:79188600-79189600	Weak transcription	Lung	lung
27	chr4:79188600-79189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:79188600-79190000	Enhancers	Brain Substantia Nigra	brain
29	chr4:79188600-79190000	Enhancers	Fetal Muscle Leg	muscle
30	chr4:79188600-79198000	Weak transcription	Pancreas	Pancrea
31	chr4:79188600-79200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
33	chr4:79188800-79189400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:79188800-79189400	Enhancers	Brain Angular Gyrus	brain
35	chr4:79188800-79189600	Enhancers	Right Ventricle	heart
36	chr4:79188800-79191600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79188800-79191600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:79188800-79197200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:79188800-79201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:79189000-79197400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:79189000-79198000	Weak transcription	Fetal Intestine Large	intestine
42	chr4:79189000-79198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:79189200-79192200	Enhancers	Fetal Heart	heart

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