Variant report

Variant	rs2027354
Chromosome Location	chr1:180660447-180660448
allele	G/T
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	chr1:180659309..180661145-chr1:180702429..180704550,2	MCF-7	breast:
3	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
4	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1043069	0.89[EUR][1000 genomes]
rs10494532	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1061015	0.89[EUR][1000 genomes]
rs1061016	0.89[EUR][1000 genomes]
rs10737351	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10753224	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10753225	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798788	0.87[ASN][1000 genomes]
rs10798790	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10798792	0.87[ASN][1000 genomes]
rs10798793	0.80[ASN][1000 genomes]
rs10798794	0.87[ASN][1000 genomes]
rs10798795	0.88[EUR][1000 genomes]
rs10914074	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914076	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914077	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914078	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914079	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914080	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914083	0.92[ASN][1000 genomes]
rs10914084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10914095	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10914107	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10914108	0.85[EUR][1000 genomes]
rs10914111	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10914112	0.82[ASN][1000 genomes]
rs10914113	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10914115	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10914117	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10914123	0.80[ASN][1000 genomes]
rs10914124	0.88[EUR][1000 genomes]
rs11585146	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11585295	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11585424	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064405	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12064862	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12064913	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12119247	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120511	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120522	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120797	0.80[ASN][1000 genomes]
rs12121436	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12131056	0.89[ASN][1000 genomes]
rs12132252	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12135869	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137133	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137673	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12141176	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142163	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143462	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12143674	0.89[EUR][1000 genomes]
rs12143915	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12725006	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12733315	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1339769	0.92[EUR][1000 genomes]
rs1533422	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1554183	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1554184	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1554185	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17373584	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1973674	0.80[ASN][1000 genomes]
rs1980157	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2138399	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2176183	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2176184	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271669	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2331887	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2944261	0.82[ASN][1000 genomes]
rs3002118	0.80[ASN][1000 genomes]
rs3002119	0.80[ASN][1000 genomes]
rs34111145	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3761904	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3789367	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789368	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789369	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789370	0.82[ASN][1000 genomes]
rs3789373	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3845407	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3856059	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3856060	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3903979	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3908048	0.85[ASN][1000 genomes]
rs4454505	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4550006	0.89[EUR][1000 genomes]
rs4652525	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652526	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652527	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4652528	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4652529	0.82[ASN][1000 genomes]
rs4652530	0.82[ASN][1000 genomes]
rs4652531	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4652533	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4652535	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61809343	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61811244	0.90[EUR][1000 genomes]
rs6425655	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6661417	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6677349	0.87[ASN][1000 genomes]
rs6677570	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6677681	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6688486	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689104	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699726	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703189	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7349119	0.82[ASN][1000 genomes]
rs7516646	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7536258	0.85[ASN][1000 genomes]
rs7544774	0.95[EUR][1000 genomes]
rs7546227	0.88[ASN][1000 genomes]
rs7546516	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7548261	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7548671	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7555356	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7556592	0.82[ASN][1000 genomes]
rs9701903	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9919167	0.94[ASN][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:33 , 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	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
4	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
8	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:180647600-180661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:180652000-180660600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:180652000-180661000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:180652200-180660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:180659000-180661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:180659400-180661200	Enhancers	A549	lung
22	chr1:180659400-180661400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:180659400-180661400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:180659400-180661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:180659600-180661600	Enhancers	Fetal Brain Female	brain
26	chr1:180659800-180661800	Enhancers	Fetal Brain Male	brain
27	chr1:180660200-180661000	Enhancers	HUVEC	blood vessel
28	chr1:180660200-180661200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:180660400-180661000	Enhancers	Hela-S3	cervix
30	chr1:180660400-180661000	Enhancers	Osteobl	bone
31	chr1:180660400-180661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:180660400-180661600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr1:180660400-180662400	Enhancers	Primary T helper cells PMA-I stimulated	--

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