Variant report

Variant	rs4847318
Chromosome Location	chr1:95082278-95082279
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	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
2	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-2	chr1:95081953-95082627	XLOC_000922
2	lnc-F3-2	chr1:95081924-95082321	NONHSAT004597
3	lnc-F3-2	chr1:95082006-95082627	NONHSAT004599

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10874867	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874868	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6686026	0.86[EUR][1000 genomes];0.80[ASN][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	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
2	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
3	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
4	nsv947122	chr1:95081067-95089572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075000-95082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:95075000-95082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
5	chr1:95075400-95082800	Weak transcription	Placenta	Placenta
6	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
7	chr1:95077000-95082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:95078400-95083000	Weak transcription	HepG2	liver
9	chr1:95078600-95082400	Weak transcription	NHLF	lung
10	chr1:95078600-95082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:95078600-95083000	Weak transcription	Colonic Mucosa	Colon
12	chr1:95078600-95085200	Weak transcription	Pancreas	Pancrea
13	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:95080800-95082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:95080800-95082800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95080800-95085200	Weak transcription	Gastric	stomach
17	chr1:95080800-95085200	Weak transcription	Lung	lung
18	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:95081000-95082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:95081000-95085400	Weak transcription	Stomach Mucosa	stomach
21	chr1:95081200-95082400	Weak transcription	Small Intestine	intestine
22	chr1:95081600-95083000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:95081600-95083800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:95081800-95082600	Weak transcription	A549	lung
25	chr1:95081800-95083400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:95081800-95083400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:95081800-95083400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:95081800-95083400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:95081800-95083600	Enhancers	Fetal Intestine Small	intestine
30	chr1:95082000-95082400	Enhancers	Fetal Heart	heart
31	chr1:95082000-95082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:95082000-95082800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:95082000-95082800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:95082000-95083000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:95082000-95083400	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:95082000-95083400	Enhancers	Fetal Intestine Large	intestine
37	chr1:95082000-95083600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:95082000-95083600	Enhancers	HMEC	breast
39	chr1:95082000-95083800	Enhancers	NH-A	brain
40	chr1:95082000-95083800	Enhancers	NHEK	skin
41	chr1:95082000-95084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:95082000-95084000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:95082000-95084200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:95082000-95084200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:95082200-95082600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:95082200-95082800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:95082200-95083000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:95082200-95083800	Enhancers	Hela-S3	cervix
49	chr1:95082200-95083800	Enhancers	NHDF-Ad	bronchial
50	chr1:95082200-95084200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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