Variant report

Variant	rs3814017
Chromosome Location	chr1:95086803-95086804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
2	chr1:95015461..95017197-chr1:95086412..95088142,2	K562	blood:
3	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:
4	chr1:95084398..95087368-chr1:95088701..95090405,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-2	chr1:95086707-95087512	XLOC_000922

Variant related genes	Relation type
ENSG00000235565	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10782984	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165185	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343479	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1539151	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1539622	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539623	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17111912	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2226095	0.83[EUR][1000 genomes]
rs35360343	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4351649	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847317	0.87[ASN][1000 genomes]
rs6661485	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7526391	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550601	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	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	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
3	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
4	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
3	chr1:95082600-95088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:95082800-95088200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:95083000-95087600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:95083000-95087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:95083400-95087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:95083400-95088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:95083800-95087200	Weak transcription	Osteobl	bone
10	chr1:95083800-95088600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:95084000-95087000	Weak transcription	HepG2	liver
12	chr1:95084000-95087600	Weak transcription	NHDF-Ad	bronchial
13	chr1:95084000-95088200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:95084800-95090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:95085000-95090200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:95085000-95090600	Enhancers	HMEC	breast
17	chr1:95085200-95087200	Enhancers	Gastric	stomach
18	chr1:95085200-95087200	Enhancers	Lung	lung
19	chr1:95085200-95087800	Enhancers	Pancreas	Pancrea
20	chr1:95085200-95087800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:95085200-95089600	Enhancers	Fetal Intestine Small	intestine
22	chr1:95085200-95089800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:95085200-95090000	Enhancers	NH-A	brain
24	chr1:95085200-95090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:95085200-95090600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95085200-95090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:95085400-95090000	Enhancers	Stomach Mucosa	stomach
28	chr1:95085600-95088200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:95085800-95087000	Weak transcription	HSMM	muscle
30	chr1:95085800-95087400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:95085800-95087800	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:95085800-95089200	Enhancers	Esophagus	oesophagus
33	chr1:95085800-95089800	Enhancers	Fetal Intestine Large	intestine
34	chr1:95086000-95087200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:95086000-95087200	Enhancers	Fetal Stomach	stomach
36	chr1:95086200-95087000	Flanking Active TSS	NHEK	skin
37	chr1:95086200-95087200	Enhancers	Small Intestine	intestine
38	chr1:95086200-95088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:95086200-95088600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:95086200-95088800	Enhancers	Fetal Heart	heart
41	chr1:95086200-95090600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:95086400-95087200	Enhancers	Aorta	Aorta
43	chr1:95086400-95087200	Enhancers	Colonic Mucosa	Colon
44	chr1:95086400-95087200	Enhancers	Colon Smooth Muscle	Colon
45	chr1:95086400-95089200	Enhancers	A549	lung
46	chr1:95086400-95090200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:95086600-95087800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:95086600-95091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:95086800-95087200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:95086800-95087200	Enhancers	Sigmoid Colon	Sigmoid Colon

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