Variant report

Variant	rs1100047
Chromosome Location	chr7:102549837-102549838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102549697-102550065	K562	blood:	n/a	n/a
2	POLR2A	chr7:102549549-102550533	K562	blood:	n/a	n/a

Variant related genes	Relation type
LRRC17	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236090	0.89[AFR][1000 genomes]
rs10240915	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs10259205	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12671524	1.00[AMR][1000 genomes]
rs1916990	1.00[AMR][1000 genomes]
rs1969429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2140621	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177550	1.00[AMR][1000 genomes]
rs28393249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2898638	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255065	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4727558	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465883	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958533	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6962336	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847653	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847655	1.00[AMR][1000 genomes]
rs847657	0.96[AFR][1000 genomes]
rs864709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
8	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102538400-102553200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:102539200-102551800	Weak transcription	Fetal Lung	lung
4	chr7:102539200-102553000	Weak transcription	Right Atrium	heart
5	chr7:102547000-102552200	Weak transcription	Stomach Mucosa	stomach
6	chr7:102547200-102554800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:102548200-102558000	Weak transcription	Pancreas	Pancrea
8	chr7:102549000-102551600	ZNF genes & repeats	K562	blood
9	chr7:102549200-102550600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:102549200-102550600	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr7:102549200-102553200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:102549400-102552600	Weak transcription	HUVEC	blood vessel
13	chr7:102549400-102553400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:102549600-102550800	Strong transcription	Fetal Stomach	stomach
15	chr7:102549600-102551000	Strong transcription	Gastric	stomach
16	chr7:102549600-102551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:102549800-102553000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:102549800-102553200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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