Variant report

Variant	rs1217216
Chromosome Location	chr1:114146135-114146136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1217194	0.83[AFR][1000 genomes]
rs1217202	0.95[AFR][1000 genomes]
rs1217212	0.98[AFR][1000 genomes]
rs1217222	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217224	0.97[AFR][1000 genomes]
rs1217225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217229	0.94[AFR][1000 genomes]
rs1217231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1235000	0.95[AFR][1000 genomes]
rs1237290	0.97[AFR][1000 genomes]
rs1343629	0.91[ASN][1000 genomes]
rs35390985	0.87[ASN][1000 genomes]
rs4259646	0.91[ASN][1000 genomes]
rs7511816	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522138	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7554019	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

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	chr1:114126600-114157200	Weak transcription	HUVEC	blood vessel
6	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
7	chr1:114136800-114158800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:114139800-114157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:114139800-114160000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:114140000-114157400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:114140400-114157800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:114140600-114150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:114140600-114151000	Weak transcription	Ovary	ovary
14	chr1:114140600-114157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:114140600-114162200	Weak transcription	NHDF-Ad	bronchial
16	chr1:114140600-114172800	Weak transcription	Colonic Mucosa	Colon
17	chr1:114140800-114162600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:114141000-114157800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:114141000-114162600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:114141200-114156800	Weak transcription	Fetal Heart	heart
21	chr1:114141200-114162200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:114141400-114157000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:114141400-114162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:114141600-114150600	Weak transcription	Liver	Liver
25	chr1:114145600-114152800	Weak transcription	Lung	lung
26	chr1:114145600-114153200	Weak transcription	Fetal Stomach	stomach
27	chr1:114145600-114157600	Weak transcription	Fetal Brain Female	brain
28	chr1:114145600-114160800	Weak transcription	Fetal Intestine Small	intestine

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