Variant report

Variant	rs716411
Chromosome Location	chr4:22427198-22427199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22425322..22428021-chr4:22430037..22432573,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10516411	0.91[EUR][1000 genomes]
rs13109198	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13110697	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13139516	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13145061	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13148867	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs13152378	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16872606	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs16872682	0.83[EUR][1000 genomes]
rs16872686	0.83[EUR][1000 genomes]
rs2126633	0.83[EUR][1000 genomes]
rs2323523	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28437151	0.87[EUR][1000 genomes]
rs34062464	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34228241	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35426712	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852147	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35926750	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs36111920	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4697013	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4697298	0.84[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4697301	0.91[EUR][1000 genomes]
rs4697306	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57133360	0.83[EUR][1000 genomes]
rs59022936	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60379399	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs61744997	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608917	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73800936	0.85[AMR][1000 genomes];0.88[ASN][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:22383200-22438000	Weak transcription	Lung	lung
3	chr4:22383600-22442800	Weak transcription	A549	lung
4	chr4:22385400-22430400	Weak transcription	Psoas Muscle	Psoas
5	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
6	chr4:22388200-22432400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
10	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
11	chr4:22390600-22439600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:22390800-22429400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:22393000-22435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:22393800-22446400	Weak transcription	NH-A	brain
19	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:22397000-22428400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:22399800-22442800	Weak transcription	Fetal Brain Female	brain
22	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
23	chr4:22400800-22429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:22400800-22430000	Weak transcription	Adipose Nuclei	Adipose
25	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:22400800-22461800	Weak transcription	Gastric	stomach
27	chr4:22401200-22431000	Weak transcription	Ovary	ovary
28	chr4:22405400-22446000	Weak transcription	Pancreas	Pancrea
29	chr4:22412800-22446000	Weak transcription	Thymus	Thymus
30	chr4:22414600-22430000	Weak transcription	Fetal Heart	heart
31	chr4:22415200-22430200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:22416800-22449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:22417600-22442200	Weak transcription	Hela-S3	cervix
34	chr4:22417800-22436200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:22418000-22435200	Strong transcription	Liver	Liver
36	chr4:22418800-22427400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:22419000-22427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:22419200-22428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
41	chr4:22419600-22428200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:22419800-22428000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:22420200-22427400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:22420200-22436400	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
46	chr4:22420800-22428600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:22420800-22436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:22421200-22442600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:22422000-22441400	Weak transcription	Right Ventricle	heart
50	chr4:22422000-22453400	Weak transcription	Esophagus	oesophagus

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