Variant report

Variant	rs28645358
Chromosome Location	chr4:22454140-22454141
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	chr4:22452403..22454410-chr4:22458067..22459809,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10000829	1.00[EUR][1000 genomes]
rs10004678	1.00[EUR][1000 genomes]
rs10006549	1.00[EUR][1000 genomes]
rs10012247	1.00[EUR][1000 genomes]
rs10013414	1.00[EUR][1000 genomes]
rs10013902	1.00[EUR][1000 genomes]
rs10017087	1.00[EUR][1000 genomes]
rs10019604	1.00[EUR][1000 genomes]
rs10021864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029008	1.00[EUR][1000 genomes]
rs10029089	1.00[EUR][1000 genomes]
rs10029265	1.00[EUR][1000 genomes]
rs16872671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414141	1.00[EUR][1000 genomes]
rs28426972	1.00[EUR][1000 genomes]
rs28490882	1.00[EUR][1000 genomes]
rs28501220	1.00[EUR][1000 genomes]
rs28518171	1.00[EUR][1000 genomes]
rs28521540	1.00[EUR][1000 genomes]
rs28542982	1.00[EUR][1000 genomes]
rs28591328	1.00[EUR][1000 genomes]
rs28660699	1.00[EUR][1000 genomes]
rs28667991	1.00[EUR][1000 genomes]
rs28698249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703830	1.00[EUR][1000 genomes]
rs28729399	1.00[EUR][1000 genomes]
rs28775576	1.00[EUR][1000 genomes]
rs28787887	1.00[EUR][1000 genomes]
rs28798753	1.00[EUR][1000 genomes]
rs28839846	1.00[EUR][1000 genomes]
rs28882371	1.00[EUR][1000 genomes]
rs34198330	1.00[EUR][1000 genomes]
rs6448148	1.00[EUR][1000 genomes]
rs6836362	1.00[EUR][1000 genomes]
rs6840912	1.00[EUR][1000 genomes]
rs6846776	1.00[EUR][1000 genomes]
rs7657782	1.00[EUR][1000 genomes]
rs7662891	1.00[EUR][1000 genomes]
rs7693660	1.00[EUR][1000 genomes]
rs9654097	1.00[EUR][1000 genomes]
rs980589	1.00[EUR][1000 genomes]
rs9992606	1.00[EUR][1000 genomes]
rs9993875	1.00[EUR][1000 genomes]
rs9995752	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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
3	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
4	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:22400800-22461800	Weak transcription	Gastric	stomach
8	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
10	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
11	chr4:22424400-22457800	Weak transcription	Dnd41	blood
12	chr4:22426000-22461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:22428600-22460600	Weak transcription	Placenta	Placenta
14	chr4:22429400-22457800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:22430600-22456000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:22432400-22460400	Weak transcription	Small Intestine	intestine
17	chr4:22433800-22479200	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:22434000-22461200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:22434800-22456000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:22436800-22456200	Weak transcription	NHEK	skin
21	chr4:22437400-22476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:22437800-22459600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:22437800-22465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:22439200-22458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:22443400-22471200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:22443400-22472400	Weak transcription	Ovary	ovary
27	chr4:22443400-22473600	Weak transcription	Fetal Brain Female	brain
28	chr4:22443600-22470800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:22443600-22476200	Weak transcription	A549	lung
30	chr4:22443800-22474600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:22444000-22470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:22445800-22456600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:22447000-22455600	Weak transcription	Pancreas	Pancrea
34	chr4:22447200-22467600	Weak transcription	Thymus	Thymus
35	chr4:22447200-22473800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:22447200-22475000	Weak transcription	NHLF	lung
37	chr4:22447800-22473400	Weak transcription	Brain Germinal Matrix	brain
38	chr4:22448000-22461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:22448200-22455000	Weak transcription	HepG2	liver
40	chr4:22448400-22456000	Weak transcription	Fetal Kidney	kidney
41	chr4:22448600-22472600	Weak transcription	Primary T cells from cord blood	blood
42	chr4:22449400-22457000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:22449600-22458200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:22450200-22455200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:22450200-22456000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:22450200-22456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:22450200-22456200	Weak transcription	HSMM	muscle
48	chr4:22450200-22457800	Weak transcription	Left Ventricle	heart
49	chr4:22450200-22459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:22450200-22471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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