Variant report

Variant	rs7832414
Chromosome Location	chr8:61176409-61176410
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	chr8:61175226..61177364-chr8:61192482..61194475,2	MCF-7	breast:
2	chr8:61171205..61174050-chr8:61175161..61177205,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086200	0.81[EUR][1000 genomes]
rs10086449	0.85[CEU][hapmap]
rs10088581	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs10089297	0.87[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10094224	0.84[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10094326	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094523	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs10094553	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097613	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098038	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100017	0.92[CEU][hapmap];0.83[CHB][hapmap]
rs10101157	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10105094	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10105098	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10105158	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10109065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10109265	0.80[EUR][1000 genomes]
rs10112099	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112677	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10435600	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs10957124	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957125	0.80[EUR][1000 genomes]
rs13269899	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13274525	0.87[MEX][hapmap]
rs13280906	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13281126	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13282489	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1480340	0.89[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1480341	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28376554	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28643410	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35256935	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35503542	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35524626	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35552143	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4351453	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4527913	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4584176	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56227154	0.90[ASN][1000 genomes]
rs6471857	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs6471858	0.82[CEU][hapmap]
rs6983247	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990370	1.00[ASW][hapmap];0.81[CEU][hapmap];0.95[MEX][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6991411	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996114	0.86[EUR][1000 genomes]
rs6998008	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6998745	0.82[MEX][hapmap]
rs7002369	0.82[CEU][hapmap]
rs7003287	0.81[EUR][1000 genomes]
rs7009181	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7009482	0.80[EUR][1000 genomes]
rs7465560	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814086	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815042	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824986	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7841372	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7841458	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7841804	0.81[EUR][1000 genomes]
rs7843385	0.82[CEU][hapmap];0.87[MEX][hapmap]
rs9298027	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298028	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9298029	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298031	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9298032	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9298033	0.88[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9657070	0.93[EUR][1000 genomes];0.82[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7832414	CA8	cis	lung	GTEx
rs7832414	PALM3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61158800-61176800	Weak transcription	A549	lung
2	chr8:61164200-61186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:61167000-61177400	Weak transcription	Fetal Thymus	thymus
4	chr8:61167000-61180200	Weak transcription	Left Ventricle	heart
5	chr8:61167000-61193200	Weak transcription	Gastric	stomach
6	chr8:61167000-61193200	Weak transcription	Lung	lung
7	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
8	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:61168200-61176800	Weak transcription	Fetal Stomach	stomach
10	chr8:61170400-61178800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61172600-61180600	Weak transcription	Placenta	Placenta
12	chr8:61172600-61185800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:61172800-61191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:61173000-61187600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:61174600-61178400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:61174600-61178800	Strong transcription	Fetal Intestine Large	intestine
17	chr8:61174600-61186600	Strong transcription	K562	blood
18	chr8:61175000-61178200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:61175000-61178200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:61175600-61177200	Strong transcription	Fetal Intestine Small	intestine

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