Variant report

Variant	rs34128679
Chromosome Location	chr1:154141260-154141261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154139030..154142378-chr1:154150077..154153962,3	K562	blood:
2	chr1:154140487..154142013-chr1:154146636..154148272,2	MCF-7	breast:
3	chr1:154140073..154141819-chr1:154142192..154143748,2	MCF-7	breast:
4	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:
5	chr1:154140469..154142418-chr1:154149971..154152963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11265238	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11802893	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12025237	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12026177	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026615	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12027999	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12028949	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038362	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12733060	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12738393	0.91[AMR][1000 genomes]
rs16835846	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16835852	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274993	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28372838	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002660	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34335016	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35761479	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3762340	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3790613	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3790614	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3811453	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3811455	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3828077	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3935419	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4433384	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620534	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60282844	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673752	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6676022	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	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	chr1:154126400-154146000	Strong transcription	HMEC	breast
2	chr1:154127000-154143400	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr1:154127000-154143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
5	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:154127200-154146000	Strong transcription	Fetal Brain Female	brain
7	chr1:154127400-154148200	Strong transcription	Liver	Liver
8	chr1:154127600-154148400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:154127800-154150000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:154128000-154148400	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:154128000-154150400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:154128000-154150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:154128200-154150200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:154128200-154151200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:154128400-154146000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:154128400-154148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:154128600-154146000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:154128600-154148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:154129600-154143600	Strong transcription	HSMMtube	muscle
20	chr1:154129600-154145600	Strong transcription	HepG2	liver
21	chr1:154129600-154145600	Strong transcription	NHEK	skin
22	chr1:154129600-154149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:154129600-154150400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr1:154129800-154148200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:154130000-154148400	Strong transcription	HSMM	muscle
26	chr1:154130200-154145800	Strong transcription	Colonic Mucosa	Colon
27	chr1:154130200-154150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:154130600-154148000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:154130600-154148400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:154130600-154148400	Weak transcription	Right Atrium	heart
31	chr1:154130600-154149800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:154130600-154150000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:154130800-154148000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:154130800-154148600	Strong transcription	Osteobl	bone
35	chr1:154131000-154141600	Weak transcription	Fetal Brain Male	brain
36	chr1:154131000-154145800	Strong transcription	Hela-S3	cervix
37	chr1:154131400-154141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:154131400-154148400	Strong transcription	Lung	lung
39	chr1:154131600-154143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:154131600-154148000	Strong transcription	Primary B cells from cord blood	blood
41	chr1:154131600-154148400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:154131600-154148400	Strong transcription	Placenta	Placenta
43	chr1:154131600-154148800	Strong transcription	NH-A	brain
44	chr1:154131800-154148000	Strong transcription	Adipose Nuclei	Adipose
45	chr1:154131800-154148200	Strong transcription	HUVEC	blood vessel
46	chr1:154131800-154148400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:154132000-154145800	Strong transcription	NHLF	lung
48	chr1:154132000-154146000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:154132000-154148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:154132000-154148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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