Variant report

Variant	rs3001363
Chromosome Location	chr1:154125067-154125068
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	chr1:153963191..153964778-chr1:154123831..154126686,2	K562	blood:
2	chr1:154122896..154125457-chr1:154127729..154131254,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10908739	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12063830	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3001362	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400599	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4540651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4579747	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4845364	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7521047	0.87[ASN][1000 genomes]
rs7537213	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154112200-154138400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154114600-154126800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:154119600-154127000	Weak transcription	Esophagus	oesophagus
4	chr1:154121000-154125200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:154121000-154127000	Weak transcription	Pancreas	Pancrea
6	chr1:154121400-154127000	Weak transcription	A549	lung
7	chr1:154121600-154125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:154121600-154126200	Weak transcription	K562	blood
9	chr1:154121600-154126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:154121800-154126400	Weak transcription	Spleen	Spleen
11	chr1:154122000-154126200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:154122000-154126200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:154122000-154126800	Weak transcription	GM12878-XiMat	blood
14	chr1:154122200-154125800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:154122200-154126000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:154122200-154126400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:154122200-154126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:154122200-154127000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:154122600-154126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:154122600-154126400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:154123400-154126400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:154123400-154126600	Weak transcription	Fetal Thymus	thymus
23	chr1:154123400-154127000	Weak transcription	Lung	lung
24	chr1:154123800-154126400	Weak transcription	HMEC	breast
25	chr1:154123800-154127000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:154123800-154127400	Weak transcription	Adipose Nuclei	Adipose
27	chr1:154124000-154127000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:154124000-154127200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:154124000-154127800	Weak transcription	Small Intestine	intestine
30	chr1:154124000-154128000	Weak transcription	NHDF-Ad	bronchial
31	chr1:154124200-154125400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:154124200-154127000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:154124200-154127000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:154124200-154127600	Weak transcription	Osteobl	bone
35	chr1:154124400-154126200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:154124400-154126200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:154124400-154126200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:154124400-154126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:154124400-154126400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:154124400-154126400	Weak transcription	NHLF	lung
41	chr1:154124400-154127000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:154124400-154127000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:154124400-154127000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:154124400-154127000	Weak transcription	HSMM	muscle
45	chr1:154124400-154127000	Weak transcription	HUVEC	blood vessel
46	chr1:154124400-154127200	Weak transcription	Right Atrium	heart
47	chr1:154124400-154127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:154124400-154127400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:154124400-154129800	Weak transcription	Left Ventricle	heart
50	chr1:154124600-154126400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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