Variant report

Variant	rs1778218
Chromosome Location	chr1:95107458-95107459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10782984	0.85[EUR][1000 genomes]
rs11165185	0.87[CEU][hapmap]
rs1539151	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1539622	0.87[CEU][hapmap]
rs1539623	0.87[CEU][hapmap]
rs1620835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17111912	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1778196	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2226095	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794489	0.91[ASN][1000 genomes]
rs2971938	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2996285	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2996288	0.91[ASN][1000 genomes]
rs35360343	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3814017	0.87[CEU][hapmap]
rs4847320	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7550601	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1910	chr1:95100383-95111872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95095800-95108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:95100800-95110600	Weak transcription	NH-A	brain
4	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:95101400-95108200	Weak transcription	Placenta	Placenta
6	chr1:95102000-95109800	Weak transcription	Pancreas	Pancrea
7	chr1:95102400-95109200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
9	chr1:95102800-95108400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:95103200-95111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:95106800-95107800	Enhancers	NHEK	skin
12	chr1:95106800-95108600	Enhancers	HMEC	breast
13	chr1:95106800-95108800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95106800-95114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:95107000-95108600	Enhancers	Small Intestine	intestine
16	chr1:95107000-95108600	Enhancers	Stomach Mucosa	stomach
17	chr1:95107000-95112000	Enhancers	Hela-S3	cervix
18	chr1:95107200-95107800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:95107200-95107800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:95107200-95108400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:95107200-95108800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:95107200-95110400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:95107200-95110600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:95107400-95107600	ZNF genes & repeats	Lung	lung
25	chr1:95107400-95108000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:95107400-95108400	Enhancers	Left Ventricle	heart
27	chr1:95107400-95110600	Enhancers	Fetal Intestine Large	intestine

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