Variant report

Variant	rs7514404
Chromosome Location	chr1:180662783-180662784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:

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

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

rs_ID	r²[population]
rs10914096	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12038863	0.84[CHB][hapmap]
rs12041936	0.84[CHB][hapmap]
rs12085097	0.87[EUR][1000 genomes]
rs1339768	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1970404	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2331626	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2331886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2944259	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs2944262	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs3002113	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs3002114	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3002115	0.91[EUR][1000 genomes]
rs3002116	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs3002117	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3002123	0.93[CEU][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3013633	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3013634	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3789366	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3843278	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3845406	1.00[CEU][hapmap]
rs3856058	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4083591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4108558	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66520411	0.91[EUR][1000 genomes]
rs6659049	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6659368	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6669245	0.92[CHB][hapmap]
rs6682974	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6685072	0.84[CHB][hapmap]
rs67780680	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72707408	0.87[EUR][1000 genomes]
rs72723045	0.91[EUR][1000 genomes]
rs7524547	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7548318	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs7550031	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs9425881	0.94[CEU][hapmap];0.88[AFR][1000 genomes];0.97[EUR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:180661000-180663200	Weak transcription	Aorta	Aorta
11	chr1:180661200-180662800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:180661200-180663200	Weak transcription	A549	lung
13	chr1:180661400-180663000	Enhancers	Primary T cells from cord blood	blood
14	chr1:180661400-180663200	Weak transcription	Right Ventricle	heart
15	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:180662200-180663000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:180662200-180663000	Enhancers	Fetal Heart	heart
18	chr1:180662200-180664400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:180662600-180663400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:180662600-180663600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:180662600-180663800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:180662600-180664000	Enhancers	Left Ventricle	heart
23	chr1:180662600-180664400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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