Variant report

Variant	rs203894
Chromosome Location	chr6:28061174-28061175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28060864..28062442-chr6:28073871..28075470,2	K562	blood:
2	chr6:28055033..28059827-chr6:28060782..28064716,7	MCF-7	breast:
3	chr6:28060510..28063110-chr6:28077574..28080015,2	K562	blood:
4	chr6:28060520..28063673-chr6:28071288..28074730,3	K562	blood:
5	chr6:28010916..28013781-chr6:28060247..28062544,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF165-1	chr6:28060117-28063493	NONHSAT108425

Variant related genes	Relation type
ENSG00000219891	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1150672	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150674	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150680	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1150683	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1150684	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1225593	0.92[YRI][hapmap]
rs1225594	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1225709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225711	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233784	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1237873	0.83[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs1416997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1480646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs149898	0.80[YRI][hapmap]
rs149957	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1529749	1.00[CEU][hapmap]
rs1565334	0.82[CEU][hapmap]
rs1613149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619221	0.87[YRI][hapmap]
rs1654777	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654778	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs169433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175955	0.92[YRI][hapmap]
rs1770130	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1770132	1.00[YRI][hapmap]
rs1770133	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17709097	1.00[CEU][hapmap]
rs17709109	1.00[CEU][hapmap]
rs17709523	1.00[CEU][hapmap]
rs17765491	1.00[CEU][hapmap]
rs1871695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2030008	0.82[CEU][hapmap]
rs203865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203868	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203871	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203874	1.00[YRI][hapmap]
rs203875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203881	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394044	1.00[CEU][hapmap]
rs2622318	0.92[YRI][hapmap]
rs2622321	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2791334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370266	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392665	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41375446	1.00[CEU][hapmap]
rs425159	0.80[YRI][hapmap]
rs427348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs539474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57349346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909320	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73740569	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740570	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742609	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348782	1.00[CEU][hapmap]
rs9348790	1.00[CEU][hapmap]
rs9348791	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357055	1.00[CEU][hapmap]
rs9357056	1.00[CEU][hapmap]
rs9366714	0.88[ASN][1000 genomes]
rs9368545	1.00[CEU][hapmap]
rs9368562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380042	1.00[CEU][hapmap]
rs9393864	0.82[CEU][hapmap]
rs9393865	0.82[CEU][hapmap]
rs9393873	1.00[CEU][hapmap]
rs9393874	1.00[CEU][hapmap]
rs9393878	0.82[CEU][hapmap]
rs9393879	1.00[CEU][hapmap]
rs9393905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs203894	Hs.158943	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28049600-28063000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:28050800-28061200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:28053400-28064600	Strong transcription	Placenta	Placenta
4	chr6:28057800-28065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:28058000-28064800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:28058200-28062200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:28058200-28062200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:28058200-28072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:28058400-28061200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:28058800-28072000	Weak transcription	HMEC	breast
11	chr6:28059200-28061200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:28059200-28063000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:28059200-28063200	Weak transcription	Pancreas	Pancrea
14	chr6:28059200-28063400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:28059200-28066800	Weak transcription	Esophagus	oesophagus
16	chr6:28059400-28061600	Weak transcription	Ovary	ovary
17	chr6:28059400-28062000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:28059400-28062000	Weak transcription	Fetal Stomach	stomach
19	chr6:28059400-28062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:28059400-28072000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:28059800-28063600	Weak transcription	Fetal Heart	heart
22	chr6:28060400-28061400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:28060600-28062400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:28061000-28061200	ZNF genes & repeats	Lung	lung
25	chr6:28061000-28063800	Weak transcription	NHEK	skin

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