Variant report

Variant	rs6673171
Chromosome Location	chr1:154139381-154139382
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	chr1:154138203..154141121-chr1:154149226..154151416,2	MCF-7	breast:
3	chr1:154139117..154140929-chr1:154152481..154154257,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1051370	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908723	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265122	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12026475	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12408170	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3196889	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521985	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845600	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845601	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55677228	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6659053	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6667928	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6693620	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72696227	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517127	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535778	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:154127800-154140200	Weak transcription	Pancreas	Pancrea
10	chr1:154127800-154150000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:154128000-154148400	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:154128000-154150400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:154128000-154150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:154128200-154150200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:154128200-154151200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:154128400-154146000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:154128400-154148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:154128600-154146000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:154128600-154148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:154129600-154143600	Strong transcription	HSMMtube	muscle
21	chr1:154129600-154145600	Strong transcription	HepG2	liver
22	chr1:154129600-154145600	Strong transcription	NHEK	skin
23	chr1:154129600-154149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:154129600-154150400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr1:154129800-154148200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:154130000-154148400	Strong transcription	HSMM	muscle
27	chr1:154130200-154145800	Strong transcription	Colonic Mucosa	Colon
28	chr1:154130200-154150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:154130600-154148000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:154130600-154148400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:154130600-154148400	Weak transcription	Right Atrium	heart
32	chr1:154130600-154149800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:154130600-154150000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:154130800-154148000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:154130800-154148600	Strong transcription	Osteobl	bone
36	chr1:154131000-154141600	Weak transcription	Fetal Brain Male	brain
37	chr1:154131000-154145800	Strong transcription	Hela-S3	cervix
38	chr1:154131400-154141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:154131400-154148400	Strong transcription	Lung	lung
40	chr1:154131600-154143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:154131600-154148000	Strong transcription	Primary B cells from cord blood	blood
42	chr1:154131600-154148400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:154131600-154148400	Strong transcription	Placenta	Placenta
44	chr1:154131600-154148800	Strong transcription	NH-A	brain
45	chr1:154131800-154148000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:154131800-154148200	Strong transcription	HUVEC	blood vessel
47	chr1:154131800-154148400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:154132000-154145800	Strong transcription	NHLF	lung
49	chr1:154132000-154146000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:154132000-154148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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