Variant report

Variant	rs34890000
Chromosome Location	chr7:128993084-128993085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128991162..128992900-chr7:128993006..128994974,2	MCF-7	breast:
2	chr7:128992325..128994144-chr7:129008256..129010083,2	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10249336	0.92[EUR][1000 genomes]
rs10255583	0.92[EUR][1000 genomes]
rs11766298	0.91[AMR][1000 genomes]
rs11975133	0.80[EUR][1000 genomes]
rs12706870	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706872	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706876	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12706877	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706878	0.84[EUR][1000 genomes]
rs12706879	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706880	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706881	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12706882	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706883	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706884	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13221770	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13224964	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13225516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13229264	0.92[EUR][1000 genomes]
rs13230585	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13235047	0.92[EUR][1000 genomes]
rs13235721	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13236334	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13240434	0.92[EUR][1000 genomes]
rs13240872	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13241894	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13244886	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13245699	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245719	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13246455	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718099	0.92[EUR][1000 genomes]
rs34026893	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34071868	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34100080	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34134934	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34285950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34534484	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34535486	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34643315	0.92[EUR][1000 genomes]
rs34651338	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34659337	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34691806	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34698607	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34721141	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34783919	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34822917	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34853082	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34867290	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35060087	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35064108	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35120382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35195965	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35239026	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35381790	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35386880	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506900	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35552948	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35654453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35695777	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35714629	0.81[AMR][1000 genomes]
rs35730873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35891284	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36016296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36033343	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36113794	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4338039	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467239	0.92[EUR][1000 genomes]
rs71529418	0.92[EUR][1000 genomes]
rs71577835	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577839	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71577849	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577853	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577868	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577869	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71579838	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579847	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579850	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579851	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579852	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579854	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv608419	chr7:128980494-128996268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128965400-128994600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:128965800-128995800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:128975000-129002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:128981600-128994400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:128981600-128995400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:128981600-128999200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:128981800-128994600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:128982000-128993400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:128983400-128998600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:128984200-128997000	Weak transcription	Psoas Muscle	Psoas
11	chr7:128984600-128995400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:128984600-129007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:128989200-128996600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:128989200-129044200	Weak transcription	Ovary	ovary
15	chr7:128990000-128993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:128990000-128995200	Weak transcription	Liver	Liver
17	chr7:128990200-128993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:128991400-128994400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128991400-128997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:128991400-129007600	Weak transcription	NHEK	skin
21	chr7:128991600-128993200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128991600-128994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:128991800-128993200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:128991800-128995400	Weak transcription	GM12878-XiMat	blood
25	chr7:128992000-128994800	Strong transcription	Primary T cells from cord blood	blood
26	chr7:128992000-128995200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:128992400-128998600	Weak transcription	Stomach Mucosa	stomach

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