Variant report

Variant	rs7690827
Chromosome Location	chr4:56213381-56213382
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
13	chr4:56212775..56214508-chr4:56411805..56414678,2	K562	blood:
14	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
15	chr4:56211622..56213741-chr4:56288738..56291622,2	MCF-7	breast:
16	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
17	chr4:56211498..56213604-chr4:56215998..56219144,5	MCF-7	breast:
18	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
19	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11133372	0.84[AFR][1000 genomes]
rs11133374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28433408	0.82[EUR][1000 genomes]
rs4864983	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6818658	0.88[AFR][1000 genomes]
rs7673512	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7692806	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];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:125 , 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	chr4:56211800-56213400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:56211800-56213400	Active TSS	HSMMtube	muscle
5	chr4:56211800-56213600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:56211800-56213800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:56212000-56213400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr4:56212000-56213400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:56212000-56213400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:56212000-56213400	Active TSS	Brain Substantia Nigra	brain
11	chr4:56212000-56213600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr4:56212000-56213600	Active TSS	HSMM	muscle
13	chr4:56212000-56214000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:56212200-56213400	Active TSS	Aorta	Aorta
15	chr4:56212200-56213400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:56212200-56213600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:56212200-56213600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:56212600-56213400	Flanking Active TSS	Colonic Mucosa	Colon
19	chr4:56212800-56213400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:56212800-56213400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:56212800-56213400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr4:56212800-56213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:56212800-56213400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr4:56212800-56213400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:56212800-56213600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr4:56212800-56213600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:56212800-56213600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:56212800-56214400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:56213000-56213400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr4:56213000-56213400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:56213000-56213400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:56213000-56213400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr4:56213000-56213400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr4:56213000-56213400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr4:56213000-56213400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr4:56213000-56213400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:56213000-56213400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:56213000-56213400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr4:56213000-56213400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr4:56213000-56213400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:56213000-56213400	Flanking Active TSS	Liver	Liver
42	chr4:56213000-56213400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:56213000-56213400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr4:56213000-56213400	Flanking Active TSS	Esophagus	oesophagus
45	chr4:56213000-56213400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr4:56213000-56213400	Enhancers	Fetal Heart	heart
47	chr4:56213000-56213400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr4:56213000-56213400	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr4:56213000-56213400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr4:56213000-56213400	Flanking Active TSS	Fetal Stomach	stomach

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