Variant report

Variant	rs1217194
Chromosome Location	chr1:114163501-114163502
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114157193..114159777-chr1:114161576..114164133,2	K562	blood:
2	chr1:114154767..114157221-chr1:114162340..114164066,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10776773	0.84[ASN][1000 genomes]
rs10858006	0.88[ASN][1000 genomes]
rs11102667	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146183	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1146185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12026423	0.80[ASN][1000 genomes]
rs12138638	0.85[ASN][1000 genomes]
rs1217202	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1217212	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217216	0.83[AFR][1000 genomes]
rs1217224	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217225	0.84[AFR][1000 genomes]
rs1217229	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1217231	0.84[AFR][1000 genomes]
rs1217238	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1230673	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230675	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1235000	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1237290	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12757859	0.88[ASN][1000 genomes]
rs1343630	0.83[ASN][1000 genomes]
rs13524	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1624335	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1743594	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1743595	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1777239	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636003	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2798137	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7518766	0.80[ASN][1000 genomes]
rs7543121	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9429525	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114100600-114173400	Weak transcription	Gastric	stomach
2	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
3	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
5	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
6	chr1:114140600-114172800	Weak transcription	Colonic Mucosa	Colon
7	chr1:114151400-114172600	Weak transcription	Ovary	ovary
8	chr1:114151800-114166400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:114153000-114163600	Weak transcription	Fetal Kidney	kidney
10	chr1:114153600-114168400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:114154000-114172400	Weak transcription	Fetal Stomach	stomach
12	chr1:114156200-114170000	Weak transcription	Small Intestine	intestine
13	chr1:114157400-114166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:114157600-114163800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:114158600-114166400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:114158800-114168600	Weak transcription	HUVEC	blood vessel
17	chr1:114159000-114168600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:114159000-114172200	Weak transcription	NH-A	brain
19	chr1:114159000-114173200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:114159200-114165200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:114160400-114169800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:114160600-114165400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:114160600-114165600	Weak transcription	Osteobl	bone
26	chr1:114160600-114168600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:114160600-114169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:114160800-114168200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:114161000-114166400	Weak transcription	Fetal Brain Male	brain
30	chr1:114161200-114168000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:114161400-114168600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:114161600-114163600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:114161600-114164600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:114161600-114172400	Weak transcription	Placenta	Placenta
35	chr1:114161600-114184600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:114161600-114184600	Weak transcription	HepG2	liver
37	chr1:114161800-114164200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:114161800-114167000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:114161800-114168600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:114162000-114167000	Strong transcription	Liver	Liver
42	chr1:114162200-114164000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:114162200-114164600	Weak transcription	Fetal Heart	heart
44	chr1:114162200-114165200	Weak transcription	Dnd41	blood
45	chr1:114162200-114167400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:114162200-114184600	Weak transcription	Left Ventricle	heart
47	chr1:114162600-114163600	Weak transcription	NHDF-Ad	bronchial
48	chr1:114162600-114164000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:114162600-114164200	Strong transcription	Fetal Intestine Large	intestine
50	chr1:114162800-114164000	Strong transcription	Adipose Nuclei	Adipose

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