Variant report

Variant	rs10782984
Chromosome Location	chr1:95087604-95087605
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	chr1:95015461..95017197-chr1:95086412..95088142,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11165185	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1343479	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1539151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1539622	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1539623	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620835	0.83[EUR][1000 genomes]
rs17111912	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1778196	0.82[EUR][1000 genomes]
rs1778218	0.85[EUR][1000 genomes]
rs2226095	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2996285	0.85[EUR][1000 genomes]
rs35360343	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3814017	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4351649	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4847320	0.86[EUR][1000 genomes]
rs6661485	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7526391	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
2	chr1:95082600-95088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:95082800-95088200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:95083000-95087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:95083400-95088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:95083800-95088600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:95084000-95088200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:95084800-95090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95085000-95090200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:95085000-95090600	Enhancers	HMEC	breast
11	chr1:95085200-95087800	Enhancers	Pancreas	Pancrea
12	chr1:95085200-95087800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:95085200-95089600	Enhancers	Fetal Intestine Small	intestine
14	chr1:95085200-95089800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:95085200-95090000	Enhancers	NH-A	brain
16	chr1:95085200-95090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:95085200-95090600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:95085200-95090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:95085400-95090000	Enhancers	Stomach Mucosa	stomach
20	chr1:95085600-95088200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:95085800-95087800	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:95085800-95089200	Enhancers	Esophagus	oesophagus
23	chr1:95085800-95089800	Enhancers	Fetal Intestine Large	intestine
24	chr1:95086200-95088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:95086200-95088600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:95086200-95088800	Enhancers	Fetal Heart	heart
27	chr1:95086200-95090600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:95086400-95089200	Enhancers	A549	lung
29	chr1:95086400-95090200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:95086600-95087800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:95086600-95091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:95086800-95089600	Enhancers	NHLF	lung
33	chr1:95086800-95090000	Enhancers	Placenta	Placenta
34	chr1:95087000-95087800	Enhancers	Fetal Muscle Leg	muscle
35	chr1:95087000-95087800	Enhancers	K562	blood
36	chr1:95087000-95088800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:95087000-95089800	Enhancers	HSMM	muscle
38	chr1:95087000-95089800	Enhancers	HSMMtube	muscle
39	chr1:95087000-95090200	Enhancers	NHEK	skin
40	chr1:95087200-95088200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:95087200-95088200	Weak transcription	Fetal Stomach	stomach
42	chr1:95087200-95088400	Weak transcription	Aorta	Aorta
43	chr1:95087200-95088400	Weak transcription	Gastric	stomach
44	chr1:95087200-95089000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:95087200-95089400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:95087200-95089400	Enhancers	Osteobl	bone
47	chr1:95087400-95087800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:95087400-95088400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:95087600-95087800	Flanking Active TSS	Hela-S3	cervix
50	chr1:95087600-95087800	Enhancers	NHDF-Ad	bronchial

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