Variant report

Variant	rs6702372
Chromosome Location	chr1:196450821-196450822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196448856..196453298-chr1:196454594..196458706,6	K562	blood:
2	chr1:196448595..196456381-chr1:196458214..196462920,9	K562	blood:
3	chr1:196450695..196453991-chr1:196455427..196457877,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10733085	1.00[EUR][1000 genomes]
rs10754186	1.00[EUR][1000 genomes]
rs11810886	1.00[EUR][1000 genomes]
rs1339953	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34860966	1.00[EUR][1000 genomes]
rs57259842	1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs57375190	1.00[EUR][1000 genomes]
rs58029172	1.00[EUR][1000 genomes]
rs59464070	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59564010	1.00[EUR][1000 genomes]
rs60858311	1.00[EUR][1000 genomes]
rs61005987	1.00[EUR][1000 genomes]
rs6674960	1.00[EUR][1000 genomes]
rs6675088	1.00[EUR][1000 genomes]
rs6676437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676634	1.00[EUR][1000 genomes]
rs6682755	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684014	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6689826	1.00[EUR][1000 genomes]
rs6695890	1.00[EUR][1000 genomes]
rs6701301	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067641	1.00[EUR][1000 genomes]
rs73067647	1.00[EUR][1000 genomes]
rs73067650	1.00[EUR][1000 genomes]
rs73067655	1.00[EUR][1000 genomes]
rs73067657	1.00[EUR][1000 genomes]
rs73067662	1.00[EUR][1000 genomes]
rs73067663	1.00[EUR][1000 genomes]
rs73067664	1.00[EUR][1000 genomes]
rs73067676	1.00[EUR][1000 genomes]
rs73067680	1.00[EUR][1000 genomes]
rs73067681	1.00[EUR][1000 genomes]
rs73067684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067688	1.00[EUR][1000 genomes]
rs73067689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069711	1.00[EUR][1000 genomes]
rs73069713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069736	1.00[EUR][1000 genomes]
rs73069738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069750	1.00[EUR][1000 genomes]
rs73069787	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069791	1.00[EUR][1000 genomes]
rs73069796	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071737	1.00[EUR][1000 genomes]
rs73071798	1.00[EUR][1000 genomes]
rs73071802	1.00[EUR][1000 genomes]
rs7523390	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526622	1.00[EUR][1000 genomes]
rs7531235	1.00[EUR][1000 genomes]
rs9659561	1.00[EUR][1000 genomes]
rs9662866	1.00[EUR][1000 genomes]
rs9728591	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196434200-196459200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:196434600-196459600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:196436400-196451000	Weak transcription	Fetal Stomach	stomach
5	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:196447400-196458200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:196447800-196451200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:196448400-196457600	Weak transcription	Fetal Kidney	kidney
11	chr1:196448800-196452200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:196450000-196459800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:196450200-196452800	Strong transcription	Liver	Liver
14	chr1:196450400-196451400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:196450600-196451000	Enhancers	NHEK	skin
16	chr1:196450600-196462200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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