Variant report

Variant	rs7541934
Chromosome Location	chr1:172291381-172291382
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: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	chr1:172290966..172293542-chr1:172305681..172308662,2	MCF-7	breast:
2	chr1:172290323..172292944-chr1:172297056..172298732,2	MCF-7	breast:
3	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
4	chr1:172291112..172293715-chr1:172326566..172328931,2	MCF-7	breast:
5	chr1:172290799..172293766-chr1:172293837..172296183,4	MCF-7	breast:
6	chr1:172063383..172065738-chr1:172289085..172291783,2	MCF-7	breast:
7	chr1:172290820..172291829-chr1:172368303..172369352,3	MCF-7	breast:
8	chr1:172253395..172255527-chr1:172290385..172292894,2	MCF-7	breast:
9	chr1:172244510..172246522-chr1:172290374..172293118,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10489290	0.85[YRI][hapmap]
rs10489291	0.85[YRI][hapmap]
rs16843882	1.00[AMR][1000 genomes]
rs16844215	1.00[AMR][1000 genomes]
rs2422075	0.85[YRI][hapmap]
rs4382763	0.85[YRI][hapmap]
rs55690470	1.00[AMR][1000 genomes]
rs56109092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56189708	1.00[AMR][1000 genomes]
rs56239164	1.00[AMR][1000 genomes]
rs56401358	1.00[AMR][1000 genomes]
rs57282950	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479172	1.00[AMR][1000 genomes]
rs59207214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124045	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124050	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124052	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1006542	chr1:172253765-172304690	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 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	chr1:172272600-172291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172275200-172309800	Weak transcription	Left Ventricle	heart
3	chr1:172289600-172293200	Enhancers	Fetal Kidney	kidney
4	chr1:172289800-172291400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:172289800-172291400	Enhancers	Colon Smooth Muscle	Colon
8	chr1:172289800-172291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:172289800-172291400	Enhancers	HSMM	muscle
10	chr1:172289800-172291600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:172289800-172291800	Enhancers	Fetal Lung	lung
12	chr1:172289800-172291800	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:172289800-172292800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:172289800-172293200	Enhancers	Ovary	ovary
15	chr1:172289800-172293400	Enhancers	Fetal Muscle Leg	muscle
16	chr1:172289800-172295200	Enhancers	Fetal Stomach	stomach
17	chr1:172290000-172291800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:172290000-172292400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:172290000-172292400	Enhancers	Brain Hippocampus Middle	brain
20	chr1:172290200-172291400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:172290200-172291400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:172290200-172291400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:172290200-172291400	Enhancers	HMEC	breast
24	chr1:172290200-172291600	Enhancers	NHLF	lung
25	chr1:172290200-172292200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:172290200-172292800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:172290200-172295600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:172290400-172292200	Flanking Active TSS	HSMMtube	muscle
29	chr1:172290400-172292200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr1:172290600-172291400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:172290600-172291400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:172290600-172291400	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:172290600-172291600	Enhancers	NH-A	brain
34	chr1:172290600-172291800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:172290600-172291800	Enhancers	Stomach Mucosa	stomach
36	chr1:172290600-172292200	Enhancers	Brain Substantia Nigra	brain
37	chr1:172290600-172292400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:172290600-172295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:172290800-172291800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:172290800-172291800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:172291000-172291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:172291000-172291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:172291000-172291400	Flanking Active TSS	HUVEC	blood vessel
44	chr1:172291000-172291400	Enhancers	Osteobl	bone
45	chr1:172291000-172291600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:172291000-172292800	Flanking Active TSS	NHEK	skin
47	chr1:172291200-172291400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:172291200-172291800	Active TSS	Right Atrium	heart
49	chr1:172291200-172292200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:172291200-172292200	Active TSS	A549	lung

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