Variant report

Variant	rs7171097
Chromosome Location	chr15:72469774-72469775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72469515..72473441-chr15:72475665..72477509,3	K562	blood:
2	chr15:72466804..72468796-chr15:72469087..72471853,2	MCF-7	breast:
3	chr15:72465996..72467606-chr15:72469217..72471235,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175318	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072348	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072352	1.00[EUR][1000 genomes]
rs12593333	1.00[EUR][1000 genomes]
rs12903688	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1457030	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800431	1.00[EUR][1000 genomes]
rs2415131	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2856926	1.00[EUR][1000 genomes]
rs2912208	1.00[EUR][1000 genomes]
rs2912209	1.00[EUR][1000 genomes]
rs2912211	1.00[EUR][1000 genomes]
rs2912212	1.00[EUR][1000 genomes]
rs2912213	1.00[EUR][1000 genomes]
rs2912218	1.00[EUR][1000 genomes]
rs2912232	1.00[EUR][1000 genomes]
rs2925647	1.00[EUR][1000 genomes]
rs2925651	1.00[EUR][1000 genomes]
rs2929516	1.00[EUR][1000 genomes]
rs2929520	1.00[EUR][1000 genomes]
rs2929523	1.00[EUR][1000 genomes]
rs2957367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957370	1.00[EUR][1000 genomes]
rs2957371	1.00[EUR][1000 genomes]
rs2957722	1.00[EUR][1000 genomes]
rs2957749	1.00[YRI][hapmap]
rs2959901	1.00[EUR][1000 genomes]
rs2959902	1.00[EUR][1000 genomes]
rs2959905	1.00[EUR][1000 genomes]
rs2959907	1.00[EUR][1000 genomes]
rs2959920	1.00[EUR][1000 genomes]
rs2959928	1.00[EUR][1000 genomes]
rs2959934	1.00[EUR][1000 genomes]
rs2959936	1.00[EUR][1000 genomes]
rs2959937	1.00[EUR][1000 genomes]
rs2959942	1.00[EUR][1000 genomes]
rs35293819	1.00[EUR][1000 genomes]
rs35514603	1.00[EUR][1000 genomes]
rs4238451	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4265763	1.00[EUR][1000 genomes]
rs4461029	1.00[EUR][1000 genomes]
rs4776585	0.81[AFR][1000 genomes]
rs4776587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4776588	1.00[EUR][1000 genomes]
rs4777487	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777493	0.84[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777502	1.00[EUR][1000 genomes]
rs56168468	1.00[EUR][1000 genomes]
rs6494987	1.00[AMR][1000 genomes]
rs6494988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494991	1.00[AMR][1000 genomes]
rs6494995	0.87[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170173	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173348	1.00[EUR][1000 genomes]
rs7173532	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180934	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032957	1.00[YRI][hapmap]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
6	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72454400-72471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:72462000-72471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72463600-72472200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:72465000-72476200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr15:72466000-72470200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72466600-72471200	Enhancers	Placenta	Placenta
7	chr15:72466600-72472400	Enhancers	HMEC	breast
8	chr15:72466800-72476200	Weak transcription	Esophagus	oesophagus
9	chr15:72467600-72471600	Weak transcription	Lung	lung
10	chr15:72467800-72471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:72468000-72476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:72468400-72473200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:72468400-72476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:72469000-72470000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr15:72469000-72472000	Weak transcription	Right Atrium	heart
16	chr15:72469000-72475000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:72469200-72471600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:72469200-72471600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:72469600-72469800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:72469600-72469800	Enhancers	Brain Hippocampus Middle	brain
21	chr15:72469600-72470000	Enhancers	Placenta Amnion	Placenta Amnion

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