Variant report

Variant	rs55646519
Chromosome Location	chr4:26892273-26892274
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	chr4:26861921..26863929-chr4:26891279..26892823,2	MCF-7	breast:
2	chr4:26891729..26894496-chr4:26895048..26897182,2	K562	blood:

Variant related genes	Relation type
ENSG00000240005	Chromatin interaction
ENSG00000109689	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	1.00[EUR][1000 genomes]
rs1035075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1860981	1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs56001106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810203	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[EUR][1000 genomes]
rs6841079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116653	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116655	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116660	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26875600-26904600	Weak transcription	Brain Anterior Caudate	brain
2	chr4:26880600-26902400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:26880600-26921600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:26881800-26896200	Weak transcription	HMEC	breast
5	chr4:26882000-26897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:26883400-26892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:26885800-26903600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:26886000-26894400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:26886000-26896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:26886600-26899400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:26886600-26921600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:26888400-26901600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:26888600-26899400	Weak transcription	Spleen	Spleen
14	chr4:26889200-26893000	Weak transcription	Thymus	Thymus
15	chr4:26889200-26893400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:26889800-26901800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:26889800-26906000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:26890200-26892600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:26890600-26892600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:26890600-26894200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:26890600-26894200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:26890600-26894200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:26890600-26894200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:26890600-26894800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:26890800-26893200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:26890800-26894400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:26891000-26893400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:26891000-26893400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:26891200-26892400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:26891400-26892400	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr4:26891400-26892600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:26891600-26892600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:26891600-26894200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:26891800-26899400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:26892200-26892600	Weak transcription	Primary T cells from cord blood	blood
36	chr4:26892200-26892800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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