Variant report

Variant	rs6554272
Chromosome Location	chr4:56213107-56213108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56212672..56213486-chr4:56265314..56266061,2	MCF-7	breast:
5	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
6	chr4:56211857..56214149-chr4:56223596..56225330,2	K562	blood:
7	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
8	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
9	chr4:56211245..56214093-chr4:56502603..56505420,3	K562	blood:
10	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
11	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
12	chr4:56212775..56214508-chr4:56411805..56414678,2	K562	blood:
13	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
14	chr4:56211622..56213741-chr4:56288738..56291622,2	MCF-7	breast:
15	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
16	chr4:56211498..56213604-chr4:56215998..56219144,5	MCF-7	breast:
17	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
18	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251111	Chromatin interaction
ENSG00000134852	Chromatin interaction
ENSG00000109255	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000272969	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000203615	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10031586	1.00[EUR][1000 genomes]
rs10034873	1.00[EUR][1000 genomes]
rs10212910	1.00[EUR][1000 genomes]
rs11936413	1.00[EUR][1000 genomes]
rs1533803	1.00[EUR][1000 genomes]
rs1554482	1.00[EUR][1000 genomes]
rs17085431	1.00[EUR][1000 genomes]
rs17085739	1.00[EUR][1000 genomes]
rs17085769	1.00[EUR][1000 genomes]
rs17085780	1.00[EUR][1000 genomes]
rs17085821	1.00[EUR][1000 genomes]
rs2140076	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28431274	1.00[EUR][1000 genomes]
rs28534637	1.00[EUR][1000 genomes]
rs28585443	1.00[EUR][1000 genomes]
rs28664865	1.00[EUR][1000 genomes]
rs35150421	1.00[EUR][1000 genomes]
rs57848550	1.00[EUR][1000 genomes]
rs58047235	1.00[EUR][1000 genomes]
rs58395965	1.00[EUR][1000 genomes]
rs6820823	1.00[EUR][1000 genomes]
rs6830995	1.00[EUR][1000 genomes]
rs6836729	1.00[EUR][1000 genomes]
rs6839741	1.00[EUR][1000 genomes]
rs6848437	1.00[EUR][1000 genomes]
rs6855837	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73149762	1.00[EUR][1000 genomes]
rs73151873	1.00[EUR][1000 genomes]
rs73151889	1.00[EUR][1000 genomes]
rs73153687	1.00[EUR][1000 genomes]
rs73819624	1.00[EUR][1000 genomes]
rs73819626	1.00[EUR][1000 genomes]
rs73819631	1.00[EUR][1000 genomes]
rs73819633	1.00[EUR][1000 genomes]
rs7656132	1.00[EUR][1000 genomes]
rs7664999	1.00[EUR][1000 genomes]
rs7673410	1.00[EUR][1000 genomes]
rs7683735	1.00[EUR][1000 genomes]
rs9312659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56211400-56213800	Active TSS	Brain Anterior Caudate	brain
2	chr4:56211600-56213400	Active TSS	A549	lung
3	chr4:56211800-56213200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:56211800-56213200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:56211800-56213200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:56211800-56213200	Active TSS	Fetal Brain Male	brain
7	chr4:56211800-56213400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr4:56211800-56213400	Active TSS	HSMMtube	muscle
9	chr4:56211800-56213600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:56211800-56213800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:56212000-56213200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:56212000-56213200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:56212000-56213200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:56212000-56213200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:56212000-56213200	Active TSS	Brain Hippocampus Middle	brain
16	chr4:56212000-56213200	Active TSS	Fetal Intestine Small	intestine
17	chr4:56212000-56213200	Active TSS	Left Ventricle	heart
18	chr4:56212000-56213200	Active TSS	Ovary	ovary
19	chr4:56212000-56213200	Active TSS	Psoas Muscle	Psoas
20	chr4:56212000-56213200	Active TSS	Right Atrium	heart
21	chr4:56212000-56213200	Active TSS	Thymus	Thymus
22	chr4:56212000-56213200	Active TSS	Hela-S3	cervix
23	chr4:56212000-56213400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:56212000-56213400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:56212000-56213400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:56212000-56213400	Active TSS	Brain Substantia Nigra	brain
27	chr4:56212000-56213600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:56212000-56213600	Active TSS	HSMM	muscle
29	chr4:56212000-56214000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:56212200-56213200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:56212200-56213200	Active TSS	Gastric	stomach
32	chr4:56212200-56213200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr4:56212200-56213400	Active TSS	Aorta	Aorta
34	chr4:56212200-56213400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr4:56212200-56213600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr4:56212200-56213600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:56212600-56213400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr4:56212800-56213200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:56212800-56213200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr4:56212800-56213200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr4:56212800-56213400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:56212800-56213400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:56212800-56213400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr4:56212800-56213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr4:56212800-56213400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr4:56212800-56213400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:56212800-56213600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr4:56212800-56213600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:56212800-56213600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:56212800-56214400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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