Variant report

Variant	rs7553766
Chromosome Location	chr1:180657838-180657839
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10914067	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914089	1.00[YRI][hapmap]
rs10914109	0.82[AMR][1000 genomes]
rs11487340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060106	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073959	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075181	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075718	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12079057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12080368	1.00[YRI][hapmap]
rs12084966	0.87[EUR][1000 genomes]
rs12094045	1.00[YRI][hapmap]
rs12238979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374649	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs28556586	1.00[EUR][1000 genomes]
rs6425649	1.00[CEU][hapmap]
rs6671675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6692545	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs6700702	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73036505	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036508	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036535	0.82[AFR][1000 genomes]
rs73047686	1.00[EUR][1000 genomes]
rs73047695	1.00[EUR][1000 genomes]
rs73049484	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049487	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051218	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051239	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7550861	1.00[YRI][hapmap]
rs7556291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:30 , 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	chr1:180642200-180658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:180644000-180660400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
11	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:180645200-180659400	Weak transcription	A549	lung
13	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:180647600-180661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:180649400-180660400	Weak transcription	Osteobl	bone
19	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:180650600-180659600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:180652000-180659400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:180652000-180660600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:180652000-180661000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:180652200-180658200	Weak transcription	Primary B cells from cord blood	blood
27	chr1:180652200-180660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:180654200-180659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:180656800-180659400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:180657800-180658600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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