Variant report

Variant	rs7686273
Chromosome Location	chr4:79528671-79528672
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79527063..79529896-chr4:79532184..79534959,3	K562	blood:
2	chr4:79526850..79529113-chr4:79529739..79531752,2	K562	blood:
3	chr4:79527982..79531762-chr4:79696305..79699139,4	MCF-7	breast:
4	chr4:79527192..79529448-chr4:79696631..79698650,2	K562	blood:
5	chr4:79527750..79532040-chr4:79547937..79551505,3	K562	blood:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1042515	0.87[CHB][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11725235	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11727844	0.80[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs11728517	0.80[ASN][1000 genomes]
rs11733032	0.86[YRI][hapmap]
rs11735840	1.00[CEU][hapmap]
rs11736376	0.89[YRI][hapmap]
rs12640075	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17003396	0.87[CHB][hapmap];0.80[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35628566	0.81[ASN][1000 genomes]
rs57415147	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57896096	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs58089913	0.92[ASN][1000 genomes]
rs59133103	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs5942	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5950	0.87[CHB][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6533842	0.88[YRI][hapmap]
rs67280698	0.92[ASN][1000 genomes]
rs6817792	0.93[CHB][hapmap]
rs6819559	0.87[ASN][1000 genomes]
rs6825653	1.00[CEU][hapmap]
rs6836185	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6837823	0.87[ASN][1000 genomes]
rs6844356	1.00[CEU][hapmap]
rs6854010	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs72607862	0.92[ASN][1000 genomes]
rs72607863	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72607864	0.92[ASN][1000 genomes]
rs72607865	0.81[ASN][1000 genomes]
rs7661370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671564	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7672903	0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7694152	0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
4	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:79491800-79542600	Weak transcription	NH-A	brain
7	chr4:79492000-79531600	Strong transcription	HMEC	breast
8	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
9	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:79513800-79534200	Strong transcription	NHEK	skin
14	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
17	chr4:79521400-79529800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:79521400-79534000	Weak transcription	Right Ventricle	heart
19	chr4:79522200-79529600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:79522600-79531200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:79522600-79531600	Weak transcription	HSMMtube	muscle
22	chr4:79523600-79533800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:79523800-79528800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr4:79524200-79528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:79524200-79529000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:79524200-79529800	Weak transcription	Fetal Heart	heart
27	chr4:79524200-79543400	Weak transcription	A549	lung
28	chr4:79524400-79530400	Weak transcription	Hela-S3	cervix
29	chr4:79524400-79532000	Weak transcription	Pancreas	Pancrea
30	chr4:79524400-79534000	Weak transcription	Placenta	Placenta
31	chr4:79524800-79530000	Weak transcription	Primary T cells from cord blood	blood
32	chr4:79525000-79529600	Weak transcription	K562	blood
33	chr4:79525000-79529800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:79525600-79531600	Weak transcription	Thymus	Thymus
35	chr4:79527600-79529400	Weak transcription	Esophagus	oesophagus
36	chr4:79527800-79529400	Weak transcription	Adipose Nuclei	Adipose
37	chr4:79527800-79530000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:79527800-79533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:79527800-79533800	Weak transcription	Fetal Stomach	stomach
40	chr4:79527800-79534000	Weak transcription	Spleen	Spleen
41	chr4:79527800-79534800	Weak transcription	Gastric	stomach
42	chr4:79527800-79535200	Weak transcription	Left Ventricle	heart
43	chr4:79527800-79535200	Weak transcription	Lung	lung
44	chr4:79527800-79535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:79527800-79542600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:79527800-79542600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:79528000-79530000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:79528000-79534800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:79528200-79531200	Weak transcription	Fetal Intestine Large	intestine
50	chr4:79528200-79531200	Weak transcription	HUVEC	blood vessel

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