Variant report

Variant	rs1360958
Chromosome Location	chr1:225726934-225726935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225726335..225728702-chr1:225730205..225734666,5	MCF-7	breast:
2	chr1:225725972..225727966-chr1:225729747..225732375,2	K562	blood:
3	chr1:225724215..225726983-chr1:226108723..226110957,2	K562	blood:
4	chr1:225710178..225712804-chr1:225725363..225728293,2	MCF-7	breast:
5	chr1:225726738..225728808-chr1:225780265..225782118,2	K562	blood:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10799310	0.81[EUR][1000 genomes]
rs10915853	0.80[AMR][1000 genomes]
rs12071529	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1222434	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1222439	0.95[EUR][1000 genomes]
rs1336480	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1764345	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1764347	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1771318	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1890999	0.85[EUR][1000 genomes]
rs2035916	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3904084	0.87[AMR][1000 genomes]
rs4233220	0.81[EUR][1000 genomes]
rs475794	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs481746	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516323	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525062	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526221	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544404	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544430	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552106	0.82[AMR][1000 genomes]
rs566085	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59363938	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6692054	0.81[EUR][1000 genomes]
rs72750896	0.88[EUR][1000 genomes]
rs7545317	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954534	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9651009	0.84[AMR][1000 genomes];0.85[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
3	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
4	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:225707200-225755000	Weak transcription	Gastric	stomach
6	chr1:225712400-225729600	Weak transcription	Right Ventricle	heart
7	chr1:225714800-225729600	Weak transcription	Ovary	ovary
8	chr1:225717600-225732000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:225717600-225744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:225717800-225729600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:225717800-225744400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:225717800-225745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:225717800-225747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:225717800-225747400	Weak transcription	Fetal Stomach	stomach
15	chr1:225717800-225758200	Weak transcription	HepG2	liver
16	chr1:225718200-225727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:225718400-225732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:225718400-225756400	Weak transcription	NHLF	lung
19	chr1:225719000-225728000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:225719800-225727000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:225719800-225730400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:225721000-225728600	Weak transcription	Fetal Brain Male	brain
23	chr1:225721600-225735200	Weak transcription	HSMM	muscle
24	chr1:225722000-225727200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:225722000-225729800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:225722800-225728000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:225722800-225747600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:225723000-225728200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:225723200-225739600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:225723400-225735200	Weak transcription	NH-A	brain
31	chr1:225724600-225728800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:225724800-225728400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:225725000-225727400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:225725000-225727600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:225725000-225727600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:225725200-225727600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:225725200-225727600	Enhancers	Brain Substantia Nigra	brain
38	chr1:225725200-225728400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:225725200-225728400	Enhancers	Fetal Lung	lung
40	chr1:225725400-225727400	Enhancers	Brain Germinal Matrix	brain
41	chr1:225725400-225728800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:225725600-225729600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:225725800-225727000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:225725800-225727400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:225725800-225729200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:225725800-225730200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:225726000-225727200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:225726000-225732000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:225726400-225727400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:225726400-225727400	Enhancers	HMEC	breast

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