Variant report

Variant	rs12067988
Chromosome Location	chr1:94786847-94786848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94784902..94787209-chr1:94788725..94790775,2	K562	blood:

Variant related genes	Relation type
ENSG00000236098	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10493871	1.00[ASN][1000 genomes]
rs10732730	1.00[EUR][1000 genomes]
rs10874842	1.00[EUR][1000 genomes]
rs10874843	1.00[EUR][1000 genomes]
rs1144301	1.00[EUR][1000 genomes]
rs11802896	1.00[EUR][1000 genomes]
rs12093625	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[EUR][1000 genomes]
rs1591704	1.00[EUR][1000 genomes]
rs1687928	1.00[EUR][1000 genomes]
rs1687932	1.00[EUR][1000 genomes]
rs1687933	1.00[EUR][1000 genomes]
rs1687936	1.00[EUR][1000 genomes]
rs1687943	1.00[EUR][1000 genomes]
rs1687961	1.00[EUR][1000 genomes]
rs1687963	1.00[EUR][1000 genomes]
rs1687964	1.00[EUR][1000 genomes]
rs1687966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111448	1.00[ASN][1000 genomes]
rs1756251	1.00[EUR][1000 genomes]
rs1756255	1.00[EUR][1000 genomes]
rs1756257	1.00[EUR][1000 genomes]
rs1756259	1.00[EUR][1000 genomes]
rs1756260	1.00[EUR][1000 genomes]
rs1756261	1.00[EUR][1000 genomes]
rs1756262	1.00[EUR][1000 genomes]
rs1756263	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1756265	1.00[EUR][1000 genomes]
rs1765610	1.00[EUR][1000 genomes]
rs1765611	1.00[EUR][1000 genomes]
rs1765615	1.00[EUR][1000 genomes]
rs1765620	1.00[EUR][1000 genomes]
rs1765643	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888336	1.00[EUR][1000 genomes]
rs1999272	1.00[EUR][1000 genomes]
rs2018665	1.00[ASN][1000 genomes]
rs2026199	1.00[EUR][1000 genomes]
rs2065232	1.00[EUR][1000 genomes]
rs2150270	1.00[EUR][1000 genomes]
rs2150271	1.00[EUR][1000 genomes]
rs2210162	1.00[EUR][1000 genomes]
rs2774924	1.00[EUR][1000 genomes]
rs2781573	1.00[EUR][1000 genomes]
rs2781574	1.00[EUR][1000 genomes]
rs2786907	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]
rs728862	1.00[ASN][1000 genomes]
rs7417304	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7513633	1.00[EUR][1000 genomes]
rs7520367	1.00[ASN][1000 genomes]
rs7547705	1.00[EUR][1000 genomes]
rs9432451	1.00[EUR][1000 genomes]
rs9432697	1.00[EUR][1000 genomes]
rs991562	1.00[ASN][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94774600-94787800	Weak transcription	Aorta	Aorta
2	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
3	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
4	chr1:94782800-94789000	Weak transcription	Fetal Kidney	kidney
5	chr1:94783000-94789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:94783200-94787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94783200-94787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94783200-94787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:94783200-94787400	Weak transcription	HSMM	muscle
10	chr1:94783200-94787800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:94783200-94788400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:94783400-94787400	Enhancers	A549	lung
14	chr1:94783600-94787000	Weak transcription	NHEK	skin
15	chr1:94783600-94787800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94784200-94787800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:94784400-94787800	Weak transcription	Lung	lung
18	chr1:94784400-94791000	Weak transcription	Gastric	stomach
19	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94785000-94787200	Weak transcription	Hela-S3	cervix
21	chr1:94785200-94787200	Weak transcription	HMEC	breast
22	chr1:94785400-94787200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:94785400-94787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94785400-94787800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:94785400-94787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:94785400-94787800	Weak transcription	Osteobl	bone
27	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:94785600-94787200	Weak transcription	Stomach Mucosa	stomach
29	chr1:94785600-94787400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:94785600-94787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:94785600-94787600	Weak transcription	NH-A	brain
32	chr1:94785600-94787800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94785600-94787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:94785600-94787800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:94785600-94787800	Weak transcription	Placenta	Placenta
36	chr1:94785600-94787800	Weak transcription	Pancreas	Pancrea
37	chr1:94785600-94788200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:94785600-94788400	Weak transcription	Right Atrium	heart
39	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:94785800-94787200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:94785800-94787200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:94785800-94787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:94785800-94787800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:94785800-94787800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94785800-94789000	Enhancers	HUVEC	blood vessel
46	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
47	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:94785800-94791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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