Variant report

Variant	rs8192835
Chromosome Location	chr7:139656609-139656610
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	chr7:139651749..139653892-chr7:139655715..139657279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1557967	0.92[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41729	0.88[EUR][1000 genomes]
rs4725563	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6950008	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6958975	0.97[ASN][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8192835	OR6V1	cis	parietal	SCAN
rs8192835	KEL	cis	parietal	SCAN
rs8192835	MRPS33	cis	parietal	SCAN
rs8192835	LOC93432	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
2	chr7:139646800-139658600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:139647000-139660600	Weak transcription	K562	blood
4	chr7:139649800-139658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:139651400-139662400	Weak transcription	Pancreas	Pancrea
6	chr7:139651400-139670000	Weak transcription	Gastric	stomach
7	chr7:139652000-139668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:139652200-139691600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:139652800-139668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:139653000-139678200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:139653200-139657200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:139653200-139658000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:139653200-139672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:139653200-139678000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:139653400-139659800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:139653400-139676000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:139653600-139661600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:139653800-139657800	Weak transcription	Primary T cells from cord blood	blood
19	chr7:139654600-139677600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:139655000-139657800	Weak transcription	Fetal Kidney	kidney
21	chr7:139655000-139660400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:139655000-139667800	Weak transcription	Colonic Mucosa	Colon
23	chr7:139655000-139677800	Weak transcription	Primary B cells from cord blood	blood
24	chr7:139655200-139658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:139655200-139660200	Strong transcription	Spleen	Spleen
26	chr7:139655600-139656800	Weak transcription	Fetal Stomach	stomach
27	chr7:139656000-139659000	Strong transcription	Fetal Thymus	thymus
28	chr7:139656200-139658000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:139656400-139657000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:139656400-139657200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:139656400-139657400	Strong transcription	Lung	lung
32	chr7:139656400-139660400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr7:139656600-139657600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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