Variant report

Variant	rs4602821
Chromosome Location	chr7:104611876-104611877
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	chr7:104610170..104612306-chr7:104746524..104748972,2	MCF-7	breast:
2	chr7:104611844..104613702-chr7:104653954..104656323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1011468	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10228174	0.84[EUR][1000 genomes]
rs10247691	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10252714	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10263499	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1029596	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11978288	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11981882	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534212	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12705296	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2097942	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2106500	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299298	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727618	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56016333	1.00[ASN][1000 genomes]
rs6466035	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66905828	0.82[ASN][1000 genomes]
rs67665940	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947388	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6950894	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6963395	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6976394	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6980244	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784126	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs888086	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9918494	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:104599000-104617200	Weak transcription	Gastric	stomach
9	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
10	chr7:104602600-104614400	Weak transcription	Placenta	Placenta
11	chr7:104603200-104612200	Weak transcription	Colonic Mucosa	Colon
12	chr7:104604600-104620200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:104604800-104612200	Weak transcription	Esophagus	oesophagus
14	chr7:104604800-104612200	Weak transcription	Spleen	Spleen
15	chr7:104604800-104612400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:104604800-104613200	Weak transcription	Left Ventricle	heart
17	chr7:104604800-104614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:104604800-104617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:104605000-104616800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:104605200-104614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:104605400-104614400	Weak transcription	Fetal Kidney	kidney
22	chr7:104605600-104614000	Weak transcription	Fetal Stomach	stomach
23	chr7:104606600-104622000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:104607200-104615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:104608200-104614000	Weak transcription	Aorta	Aorta
26	chr7:104608200-104617000	Weak transcription	Lung	lung
27	chr7:104608400-104612000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:104608400-104612000	Weak transcription	HSMMtube	muscle
29	chr7:104608400-104612000	Weak transcription	NH-A	brain
30	chr7:104608400-104612200	Weak transcription	Small Intestine	intestine
31	chr7:104608400-104612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:104608400-104613400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:104608400-104614800	Weak transcription	Pancreas	Pancrea
34	chr7:104608400-104623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:104608600-104612200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:104608800-104612000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:104609000-104614400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:104609400-104612000	Weak transcription	Fetal Intestine Small	intestine
39	chr7:104609400-104612200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:104609800-104612200	Weak transcription	Adipose Nuclei	Adipose
41	chr7:104610400-104612200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:104610800-104615200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr7:104611000-104612200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:104611000-104614000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:104611600-104612200	Enhancers	HSMM	muscle
46	chr7:104611600-104612600	Weak transcription	Right Atrium	heart
47	chr7:104611600-104612800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:104611600-104613000	Enhancers	Brain Substantia Nigra	brain
49	chr7:104611600-104614000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:104611600-104614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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