Variant report

Variant	rs964594
Chromosome Location	chr1:114655898-114655899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114623967..114627228-chr1:114653926..114657100,3	K562	blood:
2	chr1:114653835..114656090-chr1:114660410..114662840,2	K562	blood:
3	chr1:114439442..114442345-chr1:114655611..114658587,2	MCF-7	breast:
4	chr1:114644709..114646503-chr1:114655020..114657132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134262	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1872478	0.95[ASN][1000 genomes]
rs2481087	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2629811	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2629812	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2774309	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2774310	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2774311	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs479359	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs552581	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs588983	0.85[ASN][1000 genomes]
rs633255	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs659646	0.85[ASN][1000 genomes]
rs661871	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676268	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs676715	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs676743	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs677635	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs964592	0.85[ASN][1000 genomes]
rs964593	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
4	chr1:114648800-114661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:114649400-114661000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:114650400-114656200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:114650800-114666000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:114651600-114656800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:114652000-114660600	Weak transcription	Fetal Lung	lung
10	chr1:114652200-114656800	Weak transcription	NH-A	brain
11	chr1:114654200-114656800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:114654200-114657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:114654400-114656200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:114654600-114656200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:114654600-114656800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:114654800-114657200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:114654800-114661600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:114655000-114657200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:114655000-114657800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:114655200-114656600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:114655400-114656200	Genic enhancers	H9 Cell Line	embryonic stem cell
22	chr1:114655400-114656200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:114655400-114656200	Enhancers	Primary B cells from cord blood	blood
24	chr1:114655400-114656600	Enhancers	NHEK	skin
25	chr1:114655400-114656800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:114655400-114657200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:114655400-114657200	Enhancers	Adipose Nuclei	Adipose
28	chr1:114655400-114657400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:114655400-114657400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:114655400-114657800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:114655600-114656000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:114655600-114656200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:114655600-114656600	Weak transcription	Spleen	Spleen
34	chr1:114655600-114656800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:114655600-114657000	Genic enhancers	H1 Cell Line	embryonic stem cell
36	chr1:114655600-114657200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:114655600-114657600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:114655600-114659200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:114655600-114660600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:114655800-114657800	Enhancers	A549	lung
41	chr1:114655800-114659800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:114655800-114660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:114655800-114662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:114655800-114683800	Weak transcription	Right Atrium	heart

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