Variant report

Variant	rs74127405
Chromosome Location	chr1:150040923-150040924
allele	A/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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
2	chr1:149899695..149901741-chr1:150039776..150042138,2	K562	blood:
3	chr1:150040162..150042986-chr1:150044967..150046584,2	K562	blood:
4	chr1:149986387..149989368-chr1:150040476..150042209,2	MCF-7	breast:
5	chr1:149870325..149872593-chr1:150038343..150041327,5	MCF-7	breast:
6	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
7	chr1:150038609..150041088-chr1:150047588..150050887,5	MCF-7	breast:
8	chr1:149912197..149914879-chr1:150040016..150042189,2	MCF-7	breast:
9	chr1:149905738..149907678-chr1:150039325..150041187,2	MCF-7	breast:
10	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
11	chr1:149817827..149821431-chr1:150036446..150041414,4	K562	blood:
12	chr1:149981175..149982932-chr1:150039721..150041542,2	K562	blood:
13	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
14	chr1:150038983..150041057-chr1:150046382..150049857,3	MCF-7	breast:
15	chr1:149855739..149860992-chr1:150036779..150042618,12	K562	blood:
16	chr1:149897900..149900101-chr1:150038034..150041085,3	K562	blood:
17	chr1:150040336..150043313-chr1:150134934..150137492,3	K562	blood:
18	chr1:150040895..150044232-chr1:150137014..150139861,3	K562	blood:
19	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:
20	chr1:150040455..150043780-chr1:150205573..150208481,3	MCF-7	breast:
21	chr1:149818728..149822581-chr1:150037464..150041088,4	MCF-7	breast:
22	chr1:149855739..149863622-chr1:150034266..150042059,13	K562	blood:
23	chr1:149980215..149984264-chr1:150036474..150041542,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203819	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55643510	0.92[AFR][1000 genomes]
rs55989593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58106888	0.92[AFR][1000 genomes]
rs60124736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60138147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62622370	0.92[AFR][1000 genomes]
rs72692896	0.91[AFR][1000 genomes]
rs74124301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127416	0.92[AFR][1000 genomes]
rs74127419	0.92[AFR][1000 genomes]
rs74127421	0.92[AFR][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	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
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150038000-150041200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:150038000-150041200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:150038400-150041000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:150038400-150041000	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:150038400-150041200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:150038600-150041000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:150038600-150041000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:150038600-150041000	Active TSS	Right Atrium	heart
9	chr1:150038600-150041400	Active TSS	GM12878-XiMat	blood
10	chr1:150038800-150041000	Active TSS	Right Ventricle	heart
11	chr1:150038800-150041200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:150040000-150050200	Weak transcription	Spleen	Spleen
13	chr1:150040200-150041000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:150040200-150041000	Flanking Active TSS	HUVEC	blood vessel
15	chr1:150040200-150041000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:150040200-150046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:150040400-150041000	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:150040400-150041000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:150040400-150041000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150040400-150041000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:150040400-150041000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:150040400-150041000	Flanking Active TSS	Fetal Heart	heart
24	chr1:150040400-150041000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:150040400-150041000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:150040400-150041000	Enhancers	Thymus	Thymus
27	chr1:150040400-150041000	Flanking Active TSS	Osteobl	bone
28	chr1:150040400-150041200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:150040400-150041200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:150040400-150041200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:150040400-150041200	Weak transcription	Left Ventricle	heart
32	chr1:150040400-150041200	Flanking Active TSS	Hela-S3	cervix
33	chr1:150040400-150041400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:150040400-150041400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:150040400-150041800	Weak transcription	Gastric	stomach
36	chr1:150040400-150042000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:150040400-150044000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:150040400-150044000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:150040400-150046000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:150040400-150046200	Weak transcription	Fetal Thymus	thymus
41	chr1:150040400-150047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:150040400-150047800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:150040400-150047800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:150040400-150049800	Weak transcription	Ovary	ovary
45	chr1:150040400-150049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:150040400-150050000	Weak transcription	Lung	lung
47	chr1:150040400-150056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:150040400-150061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine

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