Variant report

Variant	rs4847316
Chromosome Location	chr1:95077701-95077702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12724134	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12738550	1.00[ASW][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17403082	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17411251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17411335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17411572	1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35415294	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814015	0.83[AFR][1000 genomes]
rs4847206	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847322	0.84[AFR][1000 genomes]
rs55923008	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065200-95081000	Enhancers	Stomach Mucosa	stomach
2	chr1:95065400-95081400	Enhancers	Fetal Intestine Small	intestine
3	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:95068000-95078200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:95069400-95077800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:95069600-95078200	Weak transcription	Dnd41	blood
7	chr1:95070400-95078800	Enhancers	Fetal Intestine Large	intestine
8	chr1:95072200-95078800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:95072200-95080200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:95073200-95077800	Weak transcription	NHEK	skin
11	chr1:95075000-95082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:95075000-95082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
14	chr1:95075400-95078000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:95075400-95078000	Weak transcription	NHLF	lung
16	chr1:95075400-95081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:95075400-95082000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:95075400-95082000	Weak transcription	NH-A	brain
19	chr1:95075400-95082800	Weak transcription	Placenta	Placenta
20	chr1:95075600-95080800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
22	chr1:95076000-95078200	Weak transcription	K562	blood
23	chr1:95076600-95078400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:95076600-95078600	Enhancers	Colonic Mucosa	Colon
25	chr1:95076800-95077800	Enhancers	Gastric	stomach
26	chr1:95076800-95078200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:95076800-95078400	Enhancers	HepG2	liver
28	chr1:95076800-95078600	Enhancers	Pancreas	Pancrea
29	chr1:95076800-95078800	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:95076800-95079200	Enhancers	Adipose Nuclei	Adipose
31	chr1:95076800-95080000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:95076800-95081000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:95076800-95081400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:95077000-95077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:95077000-95077800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:95077000-95078600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:95077000-95078600	Enhancers	HMEC	breast
38	chr1:95077000-95080000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:95077000-95082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:95077400-95078400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:95077400-95078600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:95077400-95078600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:95077400-95081200	Enhancers	Small Intestine	intestine
44	chr1:95077600-95077800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:95077600-95078400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:95077600-95078600	Enhancers	Hela-S3	cervix
47	chr1:95077600-95079800	Weak transcription	Lung	lung
48	chr1:95077600-95081000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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