Variant report

Variant	rs236278
Chromosome Location	chr1:94102014-94102015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12568405	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1618866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17110076	0.81[EUR][1000 genomes]
rs1740068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1740069	0.87[AMR][1000 genomes]
rs1772781	0.91[ASN][1000 genomes]
rs1772782	0.91[ASN][1000 genomes]
rs182913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183537	1.00[AMR][1000 genomes]
rs183538	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295330	0.81[EUR][1000 genomes]
rs236266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236267	0.94[ASN][1000 genomes]
rs236270	0.93[ASN][1000 genomes]
rs236271	0.93[ASN][1000 genomes]
rs236273	0.85[ASN][1000 genomes]
rs236274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236277	0.94[ASN][1000 genomes]
rs236281	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236283	0.85[AMR][1000 genomes]
rs236293	0.85[AMR][1000 genomes]
rs236295	0.85[AMR][1000 genomes]
rs236296	0.85[AMR][1000 genomes]
rs236300	0.87[AMR][1000 genomes]
rs236302	0.87[AMR][1000 genomes]
rs236303	1.00[AMR][1000 genomes]
rs236304	0.87[AMR][1000 genomes]
rs236305	0.87[AMR][1000 genomes]
rs236312	0.88[ASN][1000 genomes]
rs236313	0.89[ASN][1000 genomes]
rs236343	0.81[ASN][1000 genomes]
rs368888	0.82[ASN][1000 genomes]
rs3754189	0.81[EUR][1000 genomes]
rs3767973	0.94[EUR][1000 genomes]
rs3767979	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3767981	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767987	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767991	1.00[EUR][1000 genomes]
rs399649	0.91[ASN][1000 genomes]
rs423493	0.80[ASN][1000 genomes]
rs57012808	0.94[EUR][1000 genomes]
rs57466479	0.94[EUR][1000 genomes]
rs57914444	0.94[EUR][1000 genomes]
rs59777284	0.94[EUR][1000 genomes]
rs60159857	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6674143	0.81[EUR][1000 genomes]
rs7524368	0.94[EUR][1000 genomes]
rs798213	0.82[ASN][1000 genomes]
rs798214	0.85[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
3	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:94088600-94118800	Weak transcription	Gastric	stomach
5	chr1:94091600-94106600	Weak transcription	Aorta	Aorta
6	chr1:94091600-94107600	Weak transcription	Ovary	ovary
7	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
8	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
9	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:94097400-94108600	Strong transcription	NHEK	skin
12	chr1:94097800-94106200	Strong transcription	HMEC	breast
13	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94098000-94103200	Weak transcription	HepG2	liver
15	chr1:94098000-94104600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:94098000-94104600	Strong transcription	Hela-S3	cervix
17	chr1:94099400-94103800	Strong transcription	A549	lung
18	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
19	chr1:94100400-94102400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:94100400-94102600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:94100400-94102800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:94100400-94103000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:94100400-94103000	Enhancers	Brain Anterior Caudate	brain
24	chr1:94100400-94103400	Strong transcription	Osteobl	bone
25	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:94100600-94102400	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:94100600-94102600	Enhancers	Brain Substantia Nigra	brain
29	chr1:94100800-94102600	Strong transcription	Fetal Intestine Small	intestine
30	chr1:94101000-94102200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:94101000-94102600	Enhancers	Brain Hippocampus Middle	brain
32	chr1:94101000-94102800	Genic enhancers	Fetal Muscle Leg	muscle
33	chr1:94101200-94102600	Enhancers	Right Atrium	heart
34	chr1:94101200-94102600	Enhancers	HUVEC	blood vessel
35	chr1:94101200-94106000	Genic enhancers	Placenta	Placenta
36	chr1:94101400-94102200	Genic enhancers	NH-A	brain
37	chr1:94101400-94102600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94101400-94102600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:94101400-94102800	Enhancers	Brain Angular Gyrus	brain
40	chr1:94101600-94102200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:94101600-94102400	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:94101600-94102600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:94101600-94102600	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr1:94101600-94103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:94101600-94104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
48	chr1:94101800-94102200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:94101800-94102400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:94101800-94102400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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