Variant report

Variant	rs12089730
Chromosome Location	chr1:180662180-180662181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
2	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
3	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10914092	1.00[AMR][1000 genomes]
rs10914097	1.00[AMR][1000 genomes]
rs10914099	1.00[AMR][1000 genomes]
rs10914100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058670	1.00[AMR][1000 genomes]
rs12059839	1.00[AMR][1000 genomes]
rs12060280	1.00[AMR][1000 genomes]
rs12062543	1.00[AMR][1000 genomes]
rs12062549	1.00[AMR][1000 genomes]
rs12064761	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068825	1.00[AMR][1000 genomes]
rs12070554	1.00[AMR][1000 genomes]
rs12073278	1.00[AMR][1000 genomes]
rs12076029	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076333	1.00[AMR][1000 genomes]
rs12076671	1.00[AMR][1000 genomes]
rs12082348	1.00[AMR][1000 genomes]
rs12083109	1.00[AMR][1000 genomes]
rs12084562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085100	1.00[AMR][1000 genomes]
rs12087750	1.00[AMR][1000 genomes]
rs12088793	1.00[AMR][1000 genomes]
rs12089474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089522	1.00[AMR][1000 genomes]
rs12089583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092799	1.00[AMR][1000 genomes]
rs12093156	1.00[AMR][1000 genomes]
rs12093933	1.00[AMR][1000 genomes]
rs12094697	1.00[AMR][1000 genomes]
rs12095275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095957	1.00[AMR][1000 genomes]
rs12096142	1.00[AMR][1000 genomes]
rs12097202	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17373660	0.89[AFR][1000 genomes]
rs57004467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59193426	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
3	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
5	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180660400-180662400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:180660800-180662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:180661000-180662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:180661000-180662200	Weak transcription	HUVEC	blood vessel
18	chr1:180661000-180663200	Weak transcription	Aorta	Aorta
19	chr1:180661200-180662800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:180661200-180663200	Weak transcription	A549	lung
21	chr1:180661400-180663000	Enhancers	Primary T cells from cord blood	blood
22	chr1:180661400-180663200	Weak transcription	Right Ventricle	heart
23	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:180662000-180662600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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