Variant report

Variant	rs74130921
Chromosome Location	chr1:193093090-193093091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193091690..193093803-chr1:193152706..193155451,2	K562	blood:
3	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
4	chr1:193091734..193094443-chr1:193102754..193106005,3	MCF-7	breast:
5	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
6	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
7	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
8	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
9	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000221680	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16835169	0.83[AMR][1000 genomes]
rs56067713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665739	0.83[AMR][1000 genomes]
rs6665751	0.83[AMR][1000 genomes]
rs6682435	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130925	0.83[AMR][1000 genomes]
rs74130927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130929	0.83[AMR][1000 genomes]
rs74130930	0.83[AMR][1000 genomes]
rs74130931	0.93[AFR][1000 genomes]
rs7531808	0.81[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193090200-193093600	Active TSS	NHDF-Ad	bronchial
2	chr1:193090200-193094000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:193090400-193093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:193090400-193093200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:193090400-193093400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:193090400-193093800	Active TSS	Right Atrium	heart
7	chr1:193090400-193093800	Active TSS	NHLF	lung
8	chr1:193090400-193094000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:193090600-193093200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:193090800-193093200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:193090800-193093600	Active TSS	HMEC	breast
12	chr1:193091800-193093200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:193091800-193093400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:193091800-193093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:193091800-193093600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:193091800-193093800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:193091800-193094400	Weak transcription	Spleen	Spleen
18	chr1:193092200-193093200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:193092200-193093200	Flanking Active TSS	HUVEC	blood vessel
20	chr1:193092200-193093400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:193092200-193093600	Flanking Active TSS	Dnd41	blood
22	chr1:193092200-193093800	Enhancers	Fetal Brain Male	brain
23	chr1:193092200-193094200	Enhancers	Brain Substantia Nigra	brain
24	chr1:193092200-193094400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:193092400-193093200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:193092400-193093200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:193092400-193093400	Enhancers	Primary B cells from cord blood	blood
28	chr1:193092400-193093600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:193092400-193093600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:193092400-193093800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:193092400-193093800	Enhancers	Liver	Liver
32	chr1:193092400-193093800	Enhancers	Stomach Mucosa	stomach
33	chr1:193092400-193093800	Flanking Active TSS	NHEK	skin
34	chr1:193092400-193094200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:193092400-193094200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr1:193092400-193094400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:193092400-193094600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:193092600-193093200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:193092600-193093200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:193092600-193093200	Active TSS	Thymus	Thymus
41	chr1:193092600-193093400	Flanking Active TSS	Hela-S3	cervix
42	chr1:193092600-193093600	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:193092600-193093600	Flanking Active TSS	Osteobl	bone
44	chr1:193092600-193093800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:193092600-193093800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:193092600-193093800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:193092600-193093800	Enhancers	Fetal Heart	heart
48	chr1:193092600-193093800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:193092600-193094000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:193092600-193094000	Enhancers	Brain Cingulate Gyrus	brain

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