Variant report

Variant	rs74126907
Chromosome Location	chr1:175099913-175099914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174967738..174969633-chr1:175098002..175100021,2	MCF-7	breast:
2	chr1:174991644..174994084-chr1:175099649..175102143,2	K562	blood:
3	chr1:174998987..174999569-chr1:175099097..175100136,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206659	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000120333	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41266092	0.91[EUR][1000 genomes]
rs60694086	0.91[EUR][1000 genomes]
rs6664308	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664418	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703136	0.91[EUR][1000 genomes]
rs74126905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126919	0.91[EUR][1000 genomes]
rs74126922	0.91[EUR][1000 genomes]
rs74126923	0.91[EUR][1000 genomes]
rs7547349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175094000-175100000	Enhancers	Liver	Liver
2	chr1:175095600-175100400	Enhancers	Fetal Stomach	stomach
3	chr1:175095800-175102600	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:175096400-175102600	Enhancers	Colon Smooth Muscle	Colon
5	chr1:175096800-175100000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:175097000-175100000	Enhancers	Adipose Nuclei	Adipose
7	chr1:175097200-175103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:175097800-175103400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:175098000-175101000	Weak transcription	Right Ventricle	heart
10	chr1:175098000-175101200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:175098000-175101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:175098200-175100400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:175098400-175100600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:175098400-175101600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:175098400-175102000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:175098400-175102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175098400-175102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:175098600-175100000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:175098600-175100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:175098600-175100200	Enhancers	Small Intestine	intestine
21	chr1:175098600-175100400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:175098600-175101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:175098800-175100000	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:175098800-175100400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:175098800-175101400	Weak transcription	HMEC	breast
26	chr1:175099200-175100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:175099200-175101200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:175099200-175101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:175099200-175102800	Weak transcription	Stomach Mucosa	stomach
30	chr1:175099200-175103200	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:175099400-175100000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:175099400-175100400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr1:175099400-175101000	Weak transcription	NHLF	lung
34	chr1:175099400-175101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:175099400-175101200	Weak transcription	Left Ventricle	heart
36	chr1:175099400-175101200	Weak transcription	HSMMtube	muscle
37	chr1:175099400-175101200	Weak transcription	NHDF-Ad	bronchial
38	chr1:175099400-175101200	Weak transcription	NHEK	skin
39	chr1:175099400-175101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:175099400-175101600	Weak transcription	Ovary	ovary
41	chr1:175099400-175103000	Weak transcription	Spleen	Spleen
42	chr1:175099600-175100000	Flanking Active TSS	GM12878-XiMat	blood
43	chr1:175099600-175100400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:175099600-175100400	Weak transcription	Fetal Lung	lung
45	chr1:175099800-175100000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:175099800-175100200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:175099800-175101000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:175099800-175101200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:175099800-175101200	Weak transcription	Aorta	Aorta
50	chr1:175099800-175101200	Weak transcription	Right Atrium	heart

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