Variant report

Variant	rs11802896
Chromosome Location	chr1:94790397-94790398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94788372-94793300	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:94787069-94790474	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:94790307-94792256	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:94788347-94790525	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000236098	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10732730	1.00[EUR][1000 genomes]
rs10874842	1.00[EUR][1000 genomes]
rs10874843	1.00[EUR][1000 genomes]
rs1144301	1.00[EUR][1000 genomes]
rs12067988	1.00[EUR][1000 genomes]
rs12093625	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330857	1.00[EUR][1000 genomes]
rs1330862	1.00[EUR][1000 genomes]
rs1360364	1.00[EUR][1000 genomes]
rs1411693	1.00[EUR][1000 genomes]
rs1411694	1.00[EUR][1000 genomes]
rs1411695	1.00[EUR][1000 genomes]
rs1541097	1.00[EUR][1000 genomes]
rs1541099	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1591704	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687921	0.83[YRI][hapmap]
rs1687928	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687932	1.00[EUR][1000 genomes]
rs1687933	1.00[EUR][1000 genomes]
rs1687936	1.00[EUR][1000 genomes]
rs1687943	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687961	1.00[EUR][1000 genomes]
rs1687963	1.00[EUR][1000 genomes]
rs1687964	1.00[EUR][1000 genomes]
rs1687966	1.00[EUR][1000 genomes]
rs17111415	1.00[EUR][1000 genomes]
rs1756251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1756255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1756257	1.00[EUR][1000 genomes]
rs1756259	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1756260	1.00[EUR][1000 genomes]
rs1756261	1.00[EUR][1000 genomes]
rs1756262	1.00[EUR][1000 genomes]
rs1756265	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765610	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765611	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765615	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765620	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765642	0.89[YRI][hapmap]
rs1765643	1.00[EUR][1000 genomes]
rs1888336	1.00[EUR][1000 genomes]
rs1999272	1.00[EUR][1000 genomes]
rs2026199	1.00[EUR][1000 genomes]
rs2065232	1.00[EUR][1000 genomes]
rs2150270	1.00[EUR][1000 genomes]
rs2150271	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2210162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2774924	1.00[EUR][1000 genomes]
rs2781573	1.00[EUR][1000 genomes]
rs2781574	1.00[EUR][1000 genomes]
rs2786907	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4847200	1.00[EUR][1000 genomes]
rs4847295	1.00[EUR][1000 genomes]
rs6541339	1.00[EUR][1000 genomes]
rs6664141	1.00[EUR][1000 genomes]
rs6684982	1.00[EUR][1000 genomes]
rs6695804	1.00[EUR][1000 genomes]
rs6700676	1.00[EUR][1000 genomes]
rs6703362	1.00[EUR][1000 genomes]
rs698943	1.00[EUR][1000 genomes]
rs7513633	1.00[EUR][1000 genomes]
rs7547705	1.00[EUR][1000 genomes]
rs9432451	1.00[EUR][1000 genomes]
rs9432697	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
2	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
3	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:94784400-94791000	Weak transcription	Gastric	stomach
5	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
9	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:94785800-94791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:94786800-94790400	Weak transcription	Left Ventricle	heart
14	chr1:94787000-94790800	Enhancers	HSMMtube	muscle
15	chr1:94787200-94790800	Enhancers	Hela-S3	cervix
16	chr1:94787200-94791400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:94787200-94791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94787800-94790800	Enhancers	Osteobl	bone
20	chr1:94787800-94793400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:94788000-94790600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:94788400-94790800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:94788400-94791000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:94788400-94791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:94788400-94792000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:94788400-94792600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:94788400-94794000	Enhancers	NHLF	lung
28	chr1:94788600-94790800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:94788600-94790800	Weak transcription	Stomach Mucosa	stomach
30	chr1:94788600-94792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:94788600-94792000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:94788600-94792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:94788600-94792000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
35	chr1:94788800-94790400	Weak transcription	Placenta	Placenta
36	chr1:94788800-94791000	Weak transcription	HepG2	liver
37	chr1:94788800-94792000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:94789000-94790400	Flanking Active TSS	HUVEC	blood vessel
39	chr1:94789000-94792800	Enhancers	Fetal Kidney	kidney
40	chr1:94789200-94790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:94789200-94790400	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:94789200-94790400	Weak transcription	Lung	lung
43	chr1:94789400-94790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:94789400-94790400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:94789400-94790800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:94789400-94790800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:94789400-94790800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:94789400-94791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:94789400-94792000	Enhancers	HSMM	muscle
50	chr1:94789600-94790800	Weak transcription	Aorta	Aorta

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