Variant report

Variant	rs6573615
Chromosome Location	chr14:66046534-66046535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66045273..66047122-chr14:66055523..66058182,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10138671	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs10142283	0.84[CEU][hapmap]
rs10143206	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs10144979	0.84[CEU][hapmap]
rs10152007	0.88[CEU][hapmap]
rs10873191	0.88[CEU][hapmap];0.89[GIH][hapmap];0.87[TSI][hapmap]
rs1113962	0.84[CEU][hapmap]
rs11158595	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs11158603	0.88[CEU][hapmap];0.80[GIH][hapmap]
rs11158605	0.88[CEU][hapmap]
rs11158607	0.88[CEU][hapmap]
rs1121885	0.88[CEU][hapmap]
rs11623662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628765	0.84[CEU][hapmap]
rs11844682	0.88[CEU][hapmap]
rs12433597	0.88[CEU][hapmap]
rs12587057	0.88[CEU][hapmap]
rs12885842	0.80[CEU][hapmap]
rs12895401	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1889731	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs1953415	0.88[CEU][hapmap]
rs1953418	0.88[CEU][hapmap]
rs1956010	0.84[CEU][hapmap]
rs1958559	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1958560	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1959144	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs1959145	0.89[ASN][1000 genomes]
rs1999725	0.83[ASW][hapmap];0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2064695	1.00[CEU][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2092914	0.88[CEU][hapmap]
rs2183277	0.88[CEU][hapmap]
rs2184601	0.84[CEU][hapmap]
rs2210805	0.84[CEU][hapmap]
rs2268955	1.00[CEU][hapmap]
rs2268956	0.88[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs2411356	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2411815	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs2411820	0.84[CEU][hapmap]
rs2411823	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2898814	0.84[CEU][hapmap]
rs2898818	0.88[CEU][hapmap]
rs3825639	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs4359350	0.83[ASN][1000 genomes]
rs4587890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899178	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902399	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs4902404	0.88[CEU][hapmap]
rs6573609	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573611	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573616	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs7140341	0.88[CEU][hapmap]
rs7140695	0.84[CEU][hapmap]
rs7141536	0.83[CEU][hapmap]
rs7142906	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs7144345	0.88[CEU][hapmap]
rs7144971	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs7145500	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7145759	0.84[CEU][hapmap]
rs7146993	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs7147002	0.88[CEU][hapmap]
rs7147536	0.88[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7147636	0.81[CEU][hapmap]
rs7150448	0.84[CEU][hapmap]
rs7151561	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs7157109	0.84[CEU][hapmap]
rs7158153	0.85[CEU][hapmap]
rs7160780	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8007497	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs8010726	0.84[CEU][hapmap]
rs8011224	0.84[CEU][hapmap];0.94[CHB][hapmap];0.88[ASN][1000 genomes]
rs8012834	0.87[ASN][1000 genomes]
rs8013442	0.83[ASN][1000 genomes]
rs8016322	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8019762	0.88[CEU][hapmap]
rs8022053	0.82[ASN][1000 genomes]
rs8022080	0.88[ASN][1000 genomes]
rs9323461	0.88[CEU][hapmap]
rs9972106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription 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	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573615	FUT8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65995400-66061000	Weak transcription	Gastric	stomach
2	chr14:66022400-66047800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:66022400-66052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:66023200-66052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:66023200-66054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:66026800-66048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:66032000-66060200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:66032600-66060800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:66033200-66053600	Weak transcription	Small Intestine	intestine
10	chr14:66035800-66054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:66035800-66057400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:66039200-66054400	Weak transcription	Primary T cells from cord blood	blood
13	chr14:66039600-66047600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:66039800-66058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:66039800-66061200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:66041000-66059000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:66041000-66060800	Weak transcription	Dnd41	blood
18	chr14:66041200-66060800	Weak transcription	GM12878-XiMat	blood
19	chr14:66041200-66061000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:66041600-66049400	Weak transcription	Primary B cells from cord blood	blood
21	chr14:66042600-66047600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:66043400-66052000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:66043800-66061000	Weak transcription	Fetal Intestine Small	intestine
24	chr14:66045800-66046600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:66046200-66046600	Enhancers	Adipose Nuclei	Adipose
26	chr14:66046400-66046600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:66046400-66047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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