Variant report

Variant	rs41352847
Chromosome Location	chr1:114189880-114189881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114187353..114189449-chr1:114189672..114191281,2	MCF-7	breast:
2	chr1:114189711..114191330-chr1:114193397..114195766,2	MCF-7	breast:
3	chr1:113932839..113934722-chr1:114187354..114190196,2	MCF-7	breast:
4	chr1:114189712..114192425-chr1:114196564..114198104,2	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12144215	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419231	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17031795	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359378	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359468	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17461918	0.82[ASN][1000 genomes]
rs17508449	0.81[ASN][1000 genomes]
rs2146018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393155	0.85[EUR][1000 genomes]
rs4589108	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4838993	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4838994	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4839000	0.82[EUR][1000 genomes]
rs4839327	0.84[ASN][1000 genomes]
rs4839329	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839330	0.91[ASN][1000 genomes]
rs4839331	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4839332	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4839333	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839336	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839341	0.83[EUR][1000 genomes]
rs6678422	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514649	0.82[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	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
5	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
7	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
8	chr1:114173600-114195000	Weak transcription	HMEC	breast
9	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:114173800-114196200	Weak transcription	Gastric	stomach
11	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
13	chr1:114173800-114201800	Weak transcription	Lung	lung
14	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
15	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
17	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:114181800-114199800	Weak transcription	Fetal Brain Female	brain
19	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
20	chr1:114182200-114197600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:114182600-114194800	Weak transcription	HSMM	muscle
22	chr1:114182600-114206200	Weak transcription	Hela-S3	cervix
23	chr1:114182800-114193600	Weak transcription	Fetal Intestine Small	intestine
24	chr1:114182800-114201800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:114182800-114201800	Weak transcription	Fetal Brain Male	brain
26	chr1:114182800-114217400	Weak transcription	NHDF-Ad	bronchial
27	chr1:114183000-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:114183000-114200000	Weak transcription	HSMMtube	muscle
29	chr1:114183000-114201200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:114183000-114235800	Weak transcription	Dnd41	blood
31	chr1:114183200-114199600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:114183400-114193600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:114183400-114195400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:114183400-114199800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:114183400-114215800	Weak transcription	Fetal Lung	lung
36	chr1:114183600-114199200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:114183600-114216400	Weak transcription	A549	lung
38	chr1:114184400-114199600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:114184600-114204800	Weak transcription	Psoas Muscle	Psoas
40	chr1:114184800-114199800	Weak transcription	Brain Anterior Caudate	brain
41	chr1:114184800-114201800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:114185000-114199600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:114185200-114193600	Weak transcription	Ovary	ovary
44	chr1:114185200-114195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:114185200-114199400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:114185200-114224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:114185400-114191600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:114185400-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:114185400-114201200	Weak transcription	Brain Angular Gyrus	brain
50	chr1:114185400-114214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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