Variant report

Variant	rs2850330
Chromosome Location	chr4:102278055-102278056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102277040..102279542-chr4:102281591..102284231,2	MCF-7	breast:
2	chr4:102269774..102272032-chr4:102277264..102279804,2	K562	blood:
3	chr4:102277055..102279316-chr4:102287621..102289577,3	MCF-7	breast:
4	chr4:102276355..102278194-chr4:102281593..102284291,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10007821	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10007902	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10009249	0.90[EUR][1000 genomes]
rs10017730	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027194	0.86[EUR][1000 genomes]
rs1031033	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1031034	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1031035	0.86[EUR][1000 genomes]
rs10433980	0.90[EUR][1000 genomes]
rs10433981	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10433982	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10433984	0.84[EUR][1000 genomes]
rs11097747	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1125180	0.85[EUR][1000 genomes]
rs12499349	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12642424	0.88[EUR][1000 genomes]
rs12649313	0.84[EUR][1000 genomes]
rs13108283	0.90[EUR][1000 genomes]
rs13109704	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13132496	0.88[EUR][1000 genomes]
rs13135111	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13135270	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13135441	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13143896	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13148622	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13148645	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1348161	0.90[EUR][1000 genomes]
rs1372242	0.90[EUR][1000 genomes]
rs1476159	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1530259	0.86[EUR][1000 genomes]
rs1549513	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549514	0.84[EUR][1000 genomes]
rs1549515	0.84[EUR][1000 genomes]
rs1549516	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1583911	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1596061	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1822168	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1822169	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1946946	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013410	0.81[ASN][1000 genomes]
rs2044043	0.84[EUR][1000 genomes]
rs2044044	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210811	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119591	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2119592	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119593	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119594	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2119595	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119596	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433297	0.82[EUR][1000 genomes]
rs2433298	0.82[EUR][1000 genomes]
rs2433299	0.84[EUR][1000 genomes]
rs2433311	0.83[EUR][1000 genomes]
rs2583385	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2583386	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2583387	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2583389	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2583391	0.93[EUR][1000 genomes]
rs2583392	0.93[EUR][1000 genomes]
rs2583394	0.90[EUR][1000 genomes]
rs2583395	0.90[EUR][1000 genomes]
rs2583397	0.87[EUR][1000 genomes]
rs2583398	0.84[EUR][1000 genomes]
rs2583399	0.89[EUR][1000 genomes]
rs2850326	0.93[EUR][1000 genomes]
rs2850328	0.93[EUR][1000 genomes]
rs2850329	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2850331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850333	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850334	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850366	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850367	0.87[EUR][1000 genomes]
rs2850368	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850369	0.85[EUR][1000 genomes]
rs2850370	0.88[EUR][1000 genomes]
rs2850371	0.90[EUR][1000 genomes]
rs2850372	0.90[EUR][1000 genomes]
rs2866376	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28664200	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs293209	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293210	0.88[EUR][1000 genomes]
rs293211	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293212	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293213	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs293214	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293215	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293216	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs293217	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4235418	0.84[EUR][1000 genomes]
rs4452435	0.84[EUR][1000 genomes]
rs4574415	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4698957	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699209	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4699210	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699211	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699212	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699213	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699214	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61478357	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6532928	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532929	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6532930	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6532931	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6532933	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6532934	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6532935	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6816400	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6824603	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6825658	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6842703	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6845368	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846097	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847376	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6852377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6856370	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668224	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7670594	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7670922	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7677595	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687487	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690316	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs833945	0.86[EUR][1000 genomes]
rs833946	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs833948	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs833949	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs833955	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102270000-102280800	Weak transcription	Aorta	Aorta
2	chr4:102275400-102278400	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:102276200-102278400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr4:102276200-102279200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:102276600-102278600	Enhancers	Ovary	ovary
6	chr4:102276600-102279200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:102277000-102278400	Enhancers	Small Intestine	intestine
8	chr4:102277000-102278400	Enhancers	Stomach Mucosa	stomach
9	chr4:102277000-102279200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:102277000-102279200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:102277000-102279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:102277000-102279200	Enhancers	HSMM	muscle
13	chr4:102277000-102279200	Enhancers	HUVEC	blood vessel
14	chr4:102277200-102278200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:102277200-102278200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:102277200-102278200	Flanking Active TSS	HepG2	liver
17	chr4:102277200-102278200	Flanking Active TSS	HMEC	breast
18	chr4:102277200-102278200	Flanking Active TSS	NHEK	skin
19	chr4:102277200-102278400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:102277200-102278400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:102277200-102278400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:102277200-102278600	Enhancers	Fetal Intestine Small	intestine
23	chr4:102277200-102279200	Enhancers	Placenta	Placenta
24	chr4:102277200-102279200	Enhancers	HSMMtube	muscle
25	chr4:102277200-102279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:102277200-102279400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:102277200-102279400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:102277400-102278200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:102277400-102278200	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:102277600-102278400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:102277600-102278600	Enhancers	Fetal Intestine Large	intestine
32	chr4:102277600-102278800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:102277800-102278200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:102277800-102278200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr4:102277800-102278400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:102277800-102278400	Enhancers	Liver	Liver
37	chr4:102277800-102278400	Flanking Active TSS	NHLF	lung
38	chr4:102278000-102278200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:102278000-102278400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:102278000-102278400	Flanking Active TSS	A549	lung
41	chr4:102278000-102279200	Enhancers	Hela-S3	cervix
42	chr4:102278000-102279400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:102278000-102279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:102278000-102279600	Enhancers	NH-A	brain
45	chr4:102278000-102279800	Enhancers	Osteobl	bone

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