Variant report

Variant	rs1385527
Chromosome Location	chr3:112301244-112301245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112300713..112301557-chr3:112359630..112360182,2	MCF-7	breast:
2	chr3:112295927..112308019-chr3:112356650..112361561,36	MCF-7	breast:
3	chr3:112300755..112301715-chr3:112697798..112698770,2	MCF-7	breast:
4	chr3:112298510..112303012-chr3:112358424..112361018,7	MCF-7	breast:
5	chr3:112296118..112304967-chr3:112358198..112361873,9	K562	blood:
6	chr3:112300907..112301738-chr3:112453034..112453898,3	MCF-7	breast:
7	chr3:112257611..112259171-chr3:112300442..112301943,2	K562	blood:
8	chr3:112299951..112304967-chr3:112357404..112361339,6	K562	blood:
9	chr3:112300978..112301744-chr9:97623395..97624209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10934177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386896	1.00[ASN][1000 genomes]
rs1388442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472107	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488260	1.00[ASN][1000 genomes]
rs1488262	1.00[ASN][1000 genomes]
rs1491629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532198	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814053	1.00[ASN][1000 genomes]
rs1817694	1.00[ASN][1000 genomes]
rs1844864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906519	1.00[ASN][1000 genomes]
rs2029317	1.00[ASN][1000 genomes]
rs2399431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2464612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638036	1.00[ASN][1000 genomes]
rs2638041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638043	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2638044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668216	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705524	1.00[ASN][1000 genomes]
rs2705551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2969894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109033	0.86[ASN][1000 genomes]
rs62264580	0.83[ASN][1000 genomes]
rs6793232	1.00[ASN][1000 genomes]
rs7618978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901829	1.00[ASN][1000 genomes]
rs971832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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 target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112301600	Weak transcription	HepG2	liver
2	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
4	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
5	chr3:112281800-112325400	Weak transcription	Gastric	stomach
6	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
9	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
10	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
11	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
12	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
13	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
14	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:112282600-112301400	Weak transcription	A549	lung
20	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:112282800-112301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:112282800-112302200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:112283000-112301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:112287600-112304000	Weak transcription	HMEC	breast
26	chr3:112290400-112317400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:112290600-112301600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:112290600-112306400	Weak transcription	Colonic Mucosa	Colon
29	chr3:112290600-112315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:112290800-112303200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:112290800-112306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:112291600-112320600	Weak transcription	NHLF	lung
33	chr3:112291800-112304800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:112292200-112301800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:112292800-112301600	Weak transcription	Fetal Kidney	kidney
36	chr3:112293200-112301400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:112293200-112315600	Weak transcription	NH-A	brain
38	chr3:112293200-112318000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:112293400-112301800	Weak transcription	NHDF-Ad	bronchial
40	chr3:112295400-112311200	Weak transcription	Fetal Intestine Small	intestine
41	chr3:112296200-112304600	Strong transcription	Fetal Lung	lung
42	chr3:112296600-112307000	Strong transcription	Liver	Liver
43	chr3:112296600-112309800	Strong transcription	Placenta	Placenta
44	chr3:112296800-112306200	Strong transcription	Primary T cells from cord blood	blood
45	chr3:112297200-112307400	Strong transcription	Fetal Thymus	thymus
46	chr3:112297800-112305400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:112297800-112305800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:112297800-112307000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:112297800-112309800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:112298000-112306400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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