Variant report

Variant	rs58302550
Chromosome Location	chr10:1124852-1124853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1115087..1117560-chr10:1123514..1126172,2	MCF-7	breast:
2	chr10:1100859..1106350-chr10:1117983..1126025,11	MCF-7	breast:
3	chr10:1119310..1121566-chr10:1122599..1124944,2	K562	blood:
4	chr10:1123452..1126459-chr10:1129377..1132325,3	K562	blood:

Variant related genes	Relation type
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55740079	1.00[ASN][1000 genomes]
rs55746206	1.00[AFR][1000 genomes]
rs55756538	1.00[ASN][1000 genomes]
rs55758242	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986074	1.00[ASN][1000 genomes]
rs56236097	1.00[ASN][1000 genomes]
rs56293499	1.00[AFR][1000 genomes]
rs56752578	1.00[AFR][1000 genomes]
rs57186298	1.00[AFR][1000 genomes]
rs57224118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57392216	0.87[AFR][1000 genomes]
rs57412563	1.00[AFR][1000 genomes]
rs58386816	1.00[ASN][1000 genomes]
rs58601779	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59497142	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59543298	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59846544	1.00[ASN][1000 genomes]
rs60776568	1.00[AFR][1000 genomes]
rs61178403	1.00[ASN][1000 genomes]
rs61340790	1.00[ASN][1000 genomes]
rs73588416	1.00[ASN][1000 genomes]
rs74117664	1.00[AFR][1000 genomes]
rs74117675	1.00[AFR][1000 genomes]
rs74117676	1.00[AFR][1000 genomes]
rs74117677	1.00[AFR][1000 genomes]
rs74117686	1.00[AFR][1000 genomes]
rs74117689	1.00[AFR][1000 genomes]
rs74117691	1.00[AFR][1000 genomes]
rs74117692	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117694	1.00[AFR][1000 genomes]
rs74117695	1.00[AFR][1000 genomes]
rs74117698	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117700	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74117701	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117702	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117815	1.00[AFR][1000 genomes]
rs74117823	1.00[AFR][1000 genomes]
rs74117842	1.00[AFR][1000 genomes]
rs74120028	1.00[ASN][1000 genomes]
rs74120031	1.00[ASN][1000 genomes]
rs74120403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120404	1.00[AFR][1000 genomes]
rs74120406	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120407	1.00[AFR][1000 genomes]
rs74120408	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120410	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120412	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120413	1.00[AFR][1000 genomes]
rs74120415	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120416	1.00[AFR][1000 genomes]
rs74120418	1.00[AFR][1000 genomes]
rs74120419	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120426	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74120430	1.00[AFR][1000 genomes]
rs74120454	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
3	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active 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
13	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS 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 target site	24 gene(s)	inside rSNPs	diseases
21	nsv894725	chr10:1110464-1421516	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv1054432	chr10:1115626-1230431	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
23	nsv1041498	chr10:1117200-1760190	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1104400-1125800	Weak transcription	A549	lung
2	chr10:1104800-1125200	Weak transcription	K562	blood
3	chr10:1104800-1125800	Weak transcription	Fetal Brain Male	brain
4	chr10:1108600-1142400	Weak transcription	Stomach Mucosa	stomach
5	chr10:1108600-1144600	Weak transcription	Fetal Heart	heart
6	chr10:1110000-1125800	Weak transcription	Brain Substantia Nigra	brain
7	chr10:1110600-1126000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:1112000-1125800	Weak transcription	HUVEC	blood vessel
9	chr10:1114200-1132200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:1117200-1126000	Weak transcription	Small Intestine	intestine
11	chr10:1117200-1130800	Weak transcription	Right Atrium	heart
12	chr10:1117200-1138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:1117400-1126000	Weak transcription	Hela-S3	cervix
14	chr10:1117400-1129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:1117400-1141400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:1117800-1168600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr10:1118000-1126600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:1118000-1127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:1118000-1127200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr10:1118000-1156400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:1118000-1168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:1118000-1173800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:1118200-1129000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:1118400-1128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:1119200-1132200	Weak transcription	Fetal Kidney	kidney
26	chr10:1119600-1131400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:1120000-1125800	Weak transcription	HSMM	muscle
28	chr10:1120000-1126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr10:1120200-1125400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:1120400-1126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:1120400-1126000	Weak transcription	Brain Angular Gyrus	brain
32	chr10:1120600-1130400	Weak transcription	Colonic Mucosa	Colon
33	chr10:1120600-1130400	Weak transcription	Psoas Muscle	Psoas
34	chr10:1120800-1125400	Weak transcription	Spleen	Spleen
35	chr10:1120800-1125600	Weak transcription	Right Ventricle	heart
36	chr10:1120800-1126000	Weak transcription	Ovary	ovary
37	chr10:1121000-1125000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:1121000-1125200	Weak transcription	Brain Anterior Caudate	brain
39	chr10:1121000-1125200	Weak transcription	Lung	lung
40	chr10:1121000-1125200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:1121000-1125200	Weak transcription	GM12878-XiMat	blood
42	chr10:1121000-1125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:1121000-1125400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:1121000-1125400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:1121000-1125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:1121000-1125600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:1121000-1125600	Weak transcription	Gastric	stomach
48	chr10:1121000-1125600	Weak transcription	Pancreas	Pancrea
49	chr10:1121000-1125600	Weak transcription	HSMMtube	muscle
50	chr10:1121000-1125600	Weak transcription	NHLF	lung

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