Variant report

Variant	rs7230614
Chromosome Location	chr18:11790175-11790176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11789216..11791340-chr18:11797085..11799797,2	K562	blood:
2	chr18:11786197..11787959-chr18:11789478..11791398,2	MCF-7	breast:
3	chr18:11783235..11786004-chr18:11789445..11791383,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1249625	1.00[AMR][1000 genomes]
rs1262042	1.00[AMR][1000 genomes]
rs1262043	1.00[AMR][1000 genomes]
rs1272340	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs1364630	1.00[AMR][1000 genomes]
rs1364634	1.00[AMR][1000 genomes]
rs1424914	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1647542	1.00[AMR][1000 genomes]
rs1647552	1.00[AMR][1000 genomes]
rs1834266	0.87[AFR][1000 genomes]
rs1863121	1.00[AMR][1000 genomes]
rs4239300	1.00[YRI][hapmap]
rs6505678	1.00[AMR][1000 genomes]
rs7238570	1.00[AMR][1000 genomes]
rs7241431	1.00[YRI][hapmap]
rs8088462	1.00[AMR][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11785600-11802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11785800-11805200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11787800-11790600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:11788000-11792000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:11788000-11792000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:11788200-11791200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:11788600-11791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:11789000-11790400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:11789000-11790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:11789000-11791200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:11789000-11791400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:11789000-11791800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:11789000-11792000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:11789000-11792200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:11789000-11792200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:11789200-11790400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr18:11789200-11790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:11789200-11790400	Enhancers	Fetal Brain Male	brain
20	chr18:11789200-11791600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:11789200-11791800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:11789400-11807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:11789600-11790200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:11789600-11790200	Enhancers	Ovary	ovary
25	chr18:11789600-11790400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr18:11789600-11790600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr18:11789600-11790600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:11789800-11790400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:11789800-11790400	Enhancers	Primary B cells from peripheral blood	blood
30	chr18:11790000-11790400	Enhancers	Fetal Lung	lung
31	chr18:11790000-11791200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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