Variant report

Variant	rs1196489
Chromosome Location	chr7:121590070-121590071
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230001	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10247948	0.83[EUR][1000 genomes]
rs10272363	0.83[EUR][1000 genomes]
rs1196479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196480	1.00[YRI][hapmap]
rs1196483	0.92[YRI][hapmap]
rs1196484	0.93[YRI][hapmap]
rs1196487	0.93[YRI][hapmap]
rs1196490	1.00[YRI][hapmap]
rs1196493	0.82[YRI][hapmap]
rs1196509	1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs1206479	0.84[AMR][1000 genomes]
rs1206484	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206489	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1206496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206503	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1206508	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206510	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206512	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206513	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024252	1.00[YRI][hapmap]
rs279673	1.00[JPT][hapmap]
rs28493707	0.83[EUR][1000 genomes]
rs28582021	0.83[EUR][1000 genomes]
rs3757542	1.00[JPT][hapmap]
rs4731044	0.91[YRI][hapmap]
rs60700889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961716	1.00[YRI][hapmap]
rs73717744	0.83[EUR][1000 genomes]
rs7794741	1.00[YRI][hapmap]
rs7809545	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
3	chr7:121582200-121590200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:121582200-121591600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:121582200-121595000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:121582400-121591800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:121582800-121590200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:121583000-121592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:121583000-121592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:121586000-121590600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:121586000-121591600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:121586200-121590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain
15	chr7:121586400-121591800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:121586400-121592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:121586400-121593800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:121587600-121593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:121588000-121590200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121588000-121593200	Weak transcription	NHEK	skin
21	chr7:121589200-121591600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:121589400-121590800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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