Variant report

Variant	rs4730801
Chromosome Location	chr7:117380199-117380200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117370170..117372103-chr7:117379526..117381745,2	MCF-7	breast:
2	chr7:117373911..117375838-chr7:117379678..117382405,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10226236	1.00[JPT][hapmap]
rs10226907	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10230544	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10231905	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10234869	1.00[JPT][hapmap]
rs10242695	1.00[JPT][hapmap]
rs10244694	0.86[ASN][1000 genomes]
rs10247163	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs10249419	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10254610	1.00[JPT][hapmap]
rs10258815	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10266116	0.86[ASN][1000 genomes]
rs10272233	0.86[ASN][1000 genomes]
rs10274022	1.00[JPT][hapmap]
rs10278481	0.85[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1042180	0.86[ASN][1000 genomes]
rs10441245	0.86[ASN][1000 genomes]
rs10953848	1.00[ASN][1000 genomes]
rs11764070	0.86[ASN][1000 genomes]
rs11767185	1.00[ASN][1000 genomes]
rs11768272	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11974545	1.00[ASN][1000 genomes]
rs11975899	0.90[CEU][hapmap]
rs12534210	1.00[ASN][1000 genomes]
rs12534233	1.00[ASN][1000 genomes]
rs1366912	0.86[ASN][1000 genomes]
rs1429563	0.86[ASN][1000 genomes]
rs1429568	0.86[ASN][1000 genomes]
rs1468262	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1594189	0.86[ASN][1000 genomes]
rs17140297	0.86[ASN][1000 genomes]
rs17140352	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17452984	0.86[ASN][1000 genomes]
rs17549557	0.86[ASN][1000 genomes]
rs17550204	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17550567	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1800136	0.86[ASN][1000 genomes]
rs1966352	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059938	1.00[ASN][1000 genomes]
rs2079178	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2111204	0.83[CHD][hapmap]
rs213980	0.83[ASN][1000 genomes]
rs213981	0.83[ASN][1000 genomes]
rs213988	0.83[ASN][1000 genomes]
rs213989	0.83[ASN][1000 genomes]
rs214159	0.86[ASN][1000 genomes]
rs214163	1.00[ASN][1000 genomes]
rs214164	0.83[ASN][1000 genomes]
rs2188150	0.83[ASN][1000 genomes]
rs2189388	1.00[JPT][hapmap]
rs2193258	1.00[JPT][hapmap]
rs34331324	0.86[ASN][1000 genomes]
rs34374846	0.86[ASN][1000 genomes]
rs34541842	1.00[ASN][1000 genomes]
rs34637736	1.00[ASN][1000 genomes]
rs34665848	1.00[ASN][1000 genomes]
rs34927137	0.86[ASN][1000 genomes]
rs35216437	1.00[ASN][1000 genomes]
rs35292549	0.86[ASN][1000 genomes]
rs35454880	1.00[ASN][1000 genomes]
rs35871198	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35941557	0.86[ASN][1000 genomes]
rs4500028	1.00[ASN][1000 genomes]
rs4730793	0.86[ASN][1000 genomes]
rs4730794	0.86[ASN][1000 genomes]
rs4730795	1.00[ASN][1000 genomes]
rs4730797	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4730798	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4730799	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4730802	0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6466618	0.86[ASN][1000 genomes]
rs6466624	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6943317	0.86[ASN][1000 genomes]
rs6967118	1.00[JPT][hapmap]
rs6973257	0.86[ASN][1000 genomes]
rs6977789	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6978213	1.00[JPT][hapmap]
rs6980032	0.86[ASN][1000 genomes]
rs739797	0.81[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739798	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs757278	1.00[ASN][1000 genomes]
rs7779353	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7796168	1.00[JPT][hapmap]
rs7796211	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7804816	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs929668	1.00[CHD][hapmap];1.00[JPT][hapmap]

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	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:117353200-117384600	Weak transcription	Ovary	ovary
3	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
8	chr7:117362600-117394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:117363200-117401000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:117365400-117380800	Weak transcription	Fetal Brain Male	brain
11	chr7:117365600-117407000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:117369600-117384000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:117371600-117381600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:117371800-117396000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:117372000-117380200	Weak transcription	Fetal Intestine Large	intestine
16	chr7:117372000-117395800	Weak transcription	Fetal Intestine Small	intestine
17	chr7:117374400-117393800	Weak transcription	Fetal Heart	heart
18	chr7:117374600-117380800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:117374800-117384800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:117375000-117410800	Weak transcription	Left Ventricle	heart
21	chr7:117375200-117380400	Weak transcription	NHLF	lung
22	chr7:117375200-117380600	Weak transcription	Adipose Nuclei	Adipose
23	chr7:117375200-117380800	Weak transcription	Aorta	Aorta
24	chr7:117375200-117382000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:117375200-117395800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:117375200-117395800	Weak transcription	Pancreas	Pancrea
27	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:117375400-117384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:117375400-117396000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:117375400-117402600	Weak transcription	Esophagus	oesophagus
31	chr7:117375600-117384400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:117375800-117406800	Weak transcription	Fetal Kidney	kidney
33	chr7:117376400-117385800	Strong transcription	Fetal Brain Female	brain
34	chr7:117377200-117380400	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:117378000-117386000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:117378000-117389600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:117378600-117381400	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:117378600-117383400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr7:117378600-117384600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:117378800-117381000	Weak transcription	Fetal Stomach	stomach
41	chr7:117379000-117380200	Enhancers	Brain Hippocampus Middle	brain
42	chr7:117379000-117380400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:117379000-117384800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:117379200-117395800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:117379400-117380200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:117379400-117380200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:117379400-117380400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:117379400-117380800	Weak transcription	Fetal Lung	lung
49	chr7:117379600-117404000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:117379800-117381400	Enhancers	Brain Substantia Nigra	brain

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