Variant report

Variant	rs1230686
Chromosome Location	chr1:114291406-114291407
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114284053..114286818-chr1:114290304..114293506,3	K562	blood:
2	chr1:114288495..114291547-chr1:114293011..114295416,4	K562	blood:
3	chr1:114289501..114293595-chr1:114300580..114305501,5	MCF-7	breast:
4	chr1:114289765..114292253-chr1:114298221..114300505,2	MCF-7	breast:
5	chr1:114288641..114291547-chr1:114291937..114296627,5	K562	blood:
6	chr1:114290867..114292556-chr1:114299615..114301510,2	K562	blood:
7	chr1:114284662..114288225-chr1:114289766..114292504,3	K562	blood:
8	chr1:114286420..114288748-chr1:114290597..114292568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10858016	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10858017	0.83[AFR][1000 genomes]
rs10858019	0.85[AFR][1000 genomes]
rs11102671	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1111695	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063216	0.81[AFR][1000 genomes]
rs1217378	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217379	0.96[ASN][1000 genomes]
rs1217385	0.80[ASN][1000 genomes]
rs1217405	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217406	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217409	0.94[ASN][1000 genomes]
rs1217411	0.97[ASN][1000 genomes]
rs1217418	0.94[ASN][1000 genomes]
rs1217419	0.94[ASN][1000 genomes]
rs1217420	0.94[ASN][1000 genomes]
rs1230678	0.83[AFR][1000 genomes]
rs1230680	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1230682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230685	0.83[AFR][1000 genomes]
rs1235005	0.80[ASN][1000 genomes]
rs1310182	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1539437	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146019	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2185971	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2273758	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2476600	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2476604	0.91[ASN][1000 genomes]
rs2797412	0.83[AFR][1000 genomes]
rs2797414	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797416	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789598	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789600	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565712	0.81[AFR][1000 genomes]
rs4991898	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537798	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665194	0.80[ASN][1000 genomes]
rs6672018	0.81[ASN][1000 genomes]
rs6696784	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7555634	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556622	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
3	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
6	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
7	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:114261400-114301000	Weak transcription	Lung	lung
10	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
12	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
13	chr1:114261600-114300600	Weak transcription	Gastric	stomach
14	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
15	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:114264200-114300000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:114267400-114299400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:114267400-114300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:114268400-114292000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:114268400-114298000	Weak transcription	A549	lung
22	chr1:114268600-114292000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:114268600-114292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:114268600-114296200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:114268800-114296400	Weak transcription	NHLF	lung
26	chr1:114268800-114299200	Weak transcription	Fetal Brain Female	brain
27	chr1:114269200-114296000	Weak transcription	Ovary	ovary
28	chr1:114272800-114300000	Weak transcription	Primary B cells from cord blood	blood
29	chr1:114275200-114292600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:114277800-114299200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:114279800-114300200	Weak transcription	Fetal Kidney	kidney
32	chr1:114280400-114299000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:114280400-114300000	Weak transcription	Psoas Muscle	Psoas
34	chr1:114280400-114301400	Weak transcription	Spleen	Spleen
35	chr1:114280600-114291800	Weak transcription	Placenta	Placenta
36	chr1:114280600-114296200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:114280600-114300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:114280600-114300200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:114280800-114291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:114280800-114300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:114281000-114292000	Weak transcription	Hela-S3	cervix
42	chr1:114281200-114291800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:114281200-114291800	Weak transcription	Adipose Nuclei	Adipose
44	chr1:114281200-114292000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:114281200-114299200	Weak transcription	Fetal Heart	heart
46	chr1:114281200-114300000	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:114281200-114300000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:114283000-114294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:114285600-114298600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:114285800-114296200	Weak transcription	Fetal Muscle Leg	muscle

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