Variant report

Variant	rs10230786
Chromosome Location	chr7:48503373-48503374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10227179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10227187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10237159	1.00[CEU][hapmap]
rs10238373	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs10248546	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10249009	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10251517	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10251627	0.82[YRI][hapmap]
rs10255612	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10256255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10267753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10273407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10276131	0.91[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs10276989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10277088	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10280481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10282413	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1030707	0.85[YRI][hapmap]
rs11762388	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11765338	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11770110	0.87[JPT][hapmap]
rs12535273	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12535354	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12537664	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12540368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1534393	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17730186	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1881077	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2043391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2043392	1.00[CEU][hapmap]
rs2043393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2178088	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4083233	0.82[YRI][hapmap]
rs4144065	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs4917020	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917147	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4917149	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4917152	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917153	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4917154	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6959861	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6966120	0.83[CEU][hapmap]
rs735069	1.00[CEU][hapmap]
rs735070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7782619	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7799302	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv888007	chr7:48467581-48533508	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48503200-48503400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:48503200-48503400	ZNF genes & repeats	K562	blood
3	chr7:48503200-48503600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:48503200-48503600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr7:48503200-48503600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:48503200-48503600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:48503200-48503600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:48503200-48503600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
9	chr7:48503200-48503600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr7:48503200-48503600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:48503200-48503600	ZNF genes & repeats	Brain Angular Gyrus	brain
12	chr7:48503200-48503600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:48503200-48503600	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr7:48503200-48503600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:48503200-48503600	ZNF genes & repeats	Fetal Brain Male	brain
16	chr7:48503200-48503600	ZNF genes & repeats	Fetal Heart	heart
17	chr7:48503200-48503600	ZNF genes & repeats	Fetal Kidney	kidney
18	chr7:48503200-48503600	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
19	chr7:48503200-48503600	ZNF genes & repeats	Fetal Lung	lung
20	chr7:48503200-48503600	ZNF genes & repeats	Spleen	Spleen

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