Variant report

Variant	rs67135271
Chromosome Location	chr1:180585919-180585920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180578726..180581333-chr1:180585723..180589157,4	K562	blood:
2	chr1:180583705..180586164-chr1:180587537..180589337,2	K562	blood:
3	chr1:180585492..180588211-chr1:180615581..180617619,2	K562	blood:
4	chr1:180581736..180587616-chr1:180588288..180595360,13	K562	blood:
5	chr1:180583942..180586396-chr1:180589290..180591332,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10914054	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11799355	0.87[AFR][1000 genomes]
rs11799662	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807477	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12403445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12759582	0.98[AFR][1000 genomes]
rs34853798	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36022153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180578000-180587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:180580400-180586600	Weak transcription	Lung	lung
3	chr1:180580600-180586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:180580600-180587000	Weak transcription	Left Ventricle	heart
5	chr1:180581000-180586400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:180581400-180586400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:180581800-180600600	Weak transcription	Fetal Heart	heart
8	chr1:180582000-180586600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:180582000-180586600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:180582600-180588000	Enhancers	K562	blood
11	chr1:180582800-180586200	Enhancers	NHEK	skin
12	chr1:180583000-180586400	Enhancers	HMEC	breast
13	chr1:180583600-180586000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180584000-180586200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:180584000-180586800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:180584000-180587000	Enhancers	Fetal Lung	lung
17	chr1:180584600-180587400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:180585200-180586000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:180585200-180586000	Enhancers	Osteobl	bone
20	chr1:180585200-180586800	Enhancers	Stomach Mucosa	stomach
21	chr1:180585200-180587200	Enhancers	Pancreas	Pancrea
22	chr1:180585400-180586000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:180585400-180586000	Weak transcription	Esophagus	oesophagus
24	chr1:180585400-180586000	Weak transcription	Right Atrium	heart
25	chr1:180585400-180586600	Weak transcription	Spleen	Spleen
26	chr1:180585600-180586000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:180585600-180586200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:180585600-180586800	Enhancers	Right Ventricle	heart
29	chr1:180585600-180587400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:180585800-180586000	Enhancers	Fetal Brain Male	brain
31	chr1:180585800-180586200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:180585800-180586400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:180585800-180586800	Weak transcription	Brain Anterior Caudate	brain

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