Variant report

Variant	rs73051243
Chromosome Location	chr1:180658914-180658915
allele	C/T
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10914015	1.00[AMR][1000 genomes]
rs10914025	1.00[AMR][1000 genomes]
rs10914026	1.00[AMR][1000 genomes]
rs10914039	1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12065470	1.00[AMR][1000 genomes]
rs12076376	1.00[AMR][1000 genomes]
rs12091034	1.00[AMR][1000 genomes]
rs12095564	1.00[AMR][1000 genomes]
rs12098212	1.00[AMR][1000 genomes]
rs12354363	1.00[AMR][1000 genomes]
rs16856167	1.00[AMR][1000 genomes]
rs57135776	0.87[AFR][1000 genomes]
rs6687713	0.87[AFR][1000 genomes]
rs73034720	0.87[AFR][1000 genomes]
rs73034745	0.87[AFR][1000 genomes]
rs73034836	1.00[AFR][1000 genomes]
rs73040999	0.87[AFR][1000 genomes]
rs73044555	0.87[AFR][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:28 , 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	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:180644000-180660400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
10	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:180645200-180659400	Weak transcription	A549	lung
12	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:180647600-180661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:180649400-180660400	Weak transcription	Osteobl	bone
18	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:180650600-180659600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:180652000-180659400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:180652000-180660600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:180652000-180661000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:180652200-180660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:180654200-180659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:180656800-180659400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:180658800-180659400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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