Variant report

Variant	rs7517127
Chromosome Location	chr1:154146095-154146096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154146076-154146233	ProgFib	skin:	n/a	n/a
2	POLR2A	chr1:154145134-154146101	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154135643..154140021-chr1:154145158..154148026,3	K562	blood:
2	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
3	chr1:154142747..154146273-chr1:154146772..154152940,5	K562	blood:
4	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000264384	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1051370	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908723	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265122	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12026475	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12408170	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3196889	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521985	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845363	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845600	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845601	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55677228	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6659053	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6667928	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673171	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693620	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72696227	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7535778	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
2	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:154127400-154148200	Strong transcription	Liver	Liver
4	chr1:154127600-154148400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:154127800-154150000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr1:154128000-154148400	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:154128000-154150400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:154128000-154150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:154128200-154150200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:154128200-154151200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:154128400-154148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:154128600-154148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:154129600-154149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:154129600-154150400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr1:154129800-154148200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr1:154130000-154148400	Strong transcription	HSMM	muscle
17	chr1:154130200-154150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:154130600-154148000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:154130600-154148400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:154130600-154148400	Weak transcription	Right Atrium	heart
21	chr1:154130600-154149800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:154130600-154150000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:154130800-154148000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:154130800-154148600	Strong transcription	Osteobl	bone
25	chr1:154131400-154148400	Strong transcription	Lung	lung
26	chr1:154131600-154148000	Strong transcription	Primary B cells from cord blood	blood
27	chr1:154131600-154148400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:154131600-154148400	Strong transcription	Placenta	Placenta
29	chr1:154131600-154148800	Strong transcription	NH-A	brain
30	chr1:154131800-154148000	Strong transcription	Adipose Nuclei	Adipose
31	chr1:154131800-154148200	Strong transcription	HUVEC	blood vessel
32	chr1:154131800-154148400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:154132000-154148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:154132000-154148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:154132000-154148400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:154132200-154148200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:154132400-154148400	Strong transcription	Fetal Thymus	thymus
38	chr1:154132800-154148000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:154132800-154148200	Strong transcription	Fetal Intestine Small	intestine
40	chr1:154132800-154148400	Strong transcription	Fetal Stomach	stomach
41	chr1:154132800-154148600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:154133000-154147200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:154133200-154146800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:154133200-154149200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:154133200-154149600	Strong transcription	A549	lung
46	chr1:154133200-154149800	Strong transcription	Thymus	Thymus
47	chr1:154133600-154147800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:154133600-154148000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:154133600-154148000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:154133600-154148200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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