Variant report

Variant	rs73006303
Chromosome Location	chr1:149872073-149872074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149870476..149872872-chr1:149980684..149982893,3	MCF-7	breast:
2	chr1:149871287..149872930-chr5:179247398..179249357,2	MCF-7	breast:
3	chr1:149870500..149872892-chr1:150205749..150208479,2	MCF-7	breast:
4	chr1:149870325..149872593-chr1:150038343..150041327,5	MCF-7	breast:
5	chr1:149869289..149872659-chr1:150292468..150294685,3	MCF-7	breast:
6	chr1:149871341..149873774-chr8:145909507..145911795,2	MCF-7	breast:
7	chr1:149871037..149872618-chr11:65265092..65267931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270117	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000147799	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[AMR][1000 genomes]
rs16832993	1.00[AMR][1000 genomes]
rs16833048	1.00[AMR][1000 genomes]
rs16836857	1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	1.00[AMR][1000 genomes]
rs16837593	1.00[AMR][1000 genomes]
rs16838449	1.00[AMR][1000 genomes]
rs16838646	1.00[AMR][1000 genomes]
rs16841141	1.00[AMR][1000 genomes]
rs16841623	1.00[AMR][1000 genomes]
rs16841697	1.00[AMR][1000 genomes]
rs56929499	1.00[AMR][1000 genomes]
rs57020352	1.00[AMR][1000 genomes]
rs57182882	1.00[AMR][1000 genomes]
rs57513077	1.00[AMR][1000 genomes]
rs58100431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	1.00[AMR][1000 genomes]
rs58777569	1.00[AMR][1000 genomes]
rs59462540	1.00[AMR][1000 genomes]
rs59709800	1.00[AMR][1000 genomes]
rs59934949	1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680574	1.00[AMR][1000 genomes]
rs6694482	1.00[AMR][1000 genomes]
rs6700399	1.00[AMR][1000 genomes]
rs73004328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	1.00[AMR][1000 genomes]
rs73006333	1.00[AMR][1000 genomes]
rs73008163	1.00[AMR][1000 genomes]
rs73008167	1.00[AMR][1000 genomes]
rs73008171	1.00[AMR][1000 genomes]
rs73008191	1.00[AMR][1000 genomes]
rs73008199	1.00[AMR][1000 genomes]
rs73008201	1.00[AMR][1000 genomes]
rs73010104	1.00[AMR][1000 genomes]
rs73010113	1.00[AMR][1000 genomes]
rs73010183	1.00[AMR][1000 genomes]
rs73010186	1.00[AMR][1000 genomes]
rs73010189	1.00[AMR][1000 genomes]
rs73011904	1.00[AMR][1000 genomes]
rs73011906	1.00[AMR][1000 genomes]
rs73011909	1.00[AMR][1000 genomes]
rs73011910	1.00[AMR][1000 genomes]
rs73011912	1.00[AMR][1000 genomes]
rs73011913	1.00[AMR][1000 genomes]
rs73011915	1.00[AMR][1000 genomes]
rs73011930	0.83[AMR][1000 genomes]
rs73016112	1.00[AMR][1000 genomes]
rs7523560	1.00[AMR][1000 genomes]
rs7543861	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149870800-149872400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr1:149870800-149872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr1:149871000-149872200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:149871000-149872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:149871000-149872200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr1:149871200-149872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:149871200-149872200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr1:149871200-149872200	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr1:149871200-149872200	Flanking Active TSS	HUVEC	blood vessel
10	chr1:149871200-149872400	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr1:149871400-149872200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:149871400-149872200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:149871400-149872200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:149871400-149872200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:149871400-149872200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:149871400-149872200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:149871600-149872200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:149871600-149872200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:149871600-149872200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:149871600-149872200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr1:149871600-149872200	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr1:149871600-149872200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:149871600-149872200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:149871600-149872200	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr1:149871600-149872200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:149871600-149872200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr1:149871600-149872200	Enhancers	Fetal Brain Male	brain
28	chr1:149871600-149872200	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr1:149871600-149872200	Flanking Active TSS	Fetal Stomach	stomach
30	chr1:149871600-149872200	Flanking Active TSS	Pancreas	Pancrea
31	chr1:149871600-149872200	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:149871600-149872200	Flanking Active TSS	NHEK	skin
33	chr1:149871600-149872400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:149871600-149872400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:149871600-149872400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:149871600-149872400	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:149871600-149872400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:149871600-149876000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:149871800-149872200	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:149871800-149872200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:149871800-149872200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:149871800-149872200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:149871800-149872200	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr1:149871800-149872200	Flanking Active TSS	Fetal Heart	heart
45	chr1:149871800-149872200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr1:149871800-149872200	Flanking Active TSS	A549	lung
47	chr1:149871800-149872400	Enhancers	Primary hematopoietic stem cells	blood
48	chr1:149871800-149872400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:149871800-149872400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:149871800-149872400	Flanking Active TSS	Brain Anterior Caudate	brain

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