Variant report

Variant	rs6573604
Chromosome Location	chr14:65787941-65787942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:65787087-65789016	GM12878	blood:	n/a	n/a
2	ESR1	chr14:65787626-65788012	T-47D	breast:	n/a	chr14:65787796-65787813 chr14:65787874-65787889 chr14:65787874-65787891
3	ESR1	chr14:65787658-65788069	T-47D	breast:	n/a	chr14:65787796-65787813 chr14:65787874-65787889 chr14:65787874-65787891
4	MEF2A	chr14:65787887-65788928	GM12878	blood:	n/a	n/a
5	CEBPB	chr14:65787234-65788793	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:65787698-65788482	GM18505	blood:	n/a	n/a
7	EBF1	chr14:65787448-65788678	GM12878	blood:	n/a	chr14:65787767-65787776 chr14:65787765-65787778 chr14:65787766-65787777 chr14:65787767-65787776 chr14:65787767-65787777
8	BCLAF1	chr14:65787607-65788818	GM12878	blood:	n/a	chr14:65787669-65787678 chr14:65787613-65787622
9	IKZF1	chr14:65787522-65788730	GM12878	blood:	n/a	n/a
10	SPI1	chr14:65787662-65788632	GM12878	blood:	n/a	chr14:65787947-65787960 chr14:65787946-65787959 chr14:65787728-65787741
11	ESR1	chr14:65787683-65788104	T-47D	breast:	n/a	chr14:65787796-65787813 chr14:65787874-65787889 chr14:65787874-65787891
12	POLR2A	chr14:65787451-65788954	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:65787559-65788856	GM12891	blood:	n/a	n/a
14	PML	chr14:65787392-65788897	GM12878	blood:	n/a	chr14:65787614-65787623
15	NFATC1	chr14:65787575-65788752	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:65787869-65788526	GM12891	blood:	n/a	n/a
17	FOXM1	chr14:65787538-65788780	GM12878	blood:	n/a	n/a
18	MTA3	chr14:65787500-65788998	GM12878	blood:	n/a	n/a
19	EP300	chr14:65787717-65788672	GM12878	blood:	n/a	chr14:65788215-65788229 chr14:65787944-65787958 chr14:65787948-65787957
20	SP1	chr14:65787902-65788655	GM12878	blood:	n/a	n/a
21	IRF4	chr14:65787569-65788781	GM12878	blood:	n/a	n/a
22	BCLAF1	chr14:65787773-65788802	GM12878	blood:	n/a	n/a
23	ESR1	chr14:65787639-65788063	T-47D	breast:	n/a	chr14:65787796-65787813 chr14:65787874-65787889 chr14:65787874-65787891
24	RUNX3	chr14:65787498-65788935	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:65787874-65788486	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:65787626-65788532	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:65787627-65788528	GM12891	blood:	n/a	n/a
28	POLR2A	chr14:65787398-65789209	GM12892	blood:	n/a	n/a
29	RUNX3	chr14:65787669-65788929	GM12878	blood:	n/a	n/a
30	ZNF263	chr14:65787534-65788196	HEK293-T-REx	kidney:	n/a	chr14:65787733-65787742 chr14:65787734-65787755
31	POLR2A	chr14:65787410-65788545	GM12892	blood:	n/a	n/a
32	FOXM1	chr14:65787683-65788933	GM12878	blood:	n/a	n/a
33	WRNIP1	chr14:65787688-65788239	GM12878	blood:	n/a	n/a
34	CTCF	chr14:65787900-65788050	GM12868	blood:	n/a	chr14:65788035-65788043
35	RELA	chr14:65787584-65788795	GM19099	blood:	n/a	n/a
36	EBF1	chr14:65787516-65788373	GM12878	blood:	n/a	chr14:65787767-65787776 chr14:65787765-65787778 chr14:65787766-65787777 chr14:65787767-65787776 chr14:65787767-65787777
37	ESR1	chr14:65787689-65788082	T-47D	breast:	n/a	chr14:65787796-65787813 chr14:65787874-65787889 chr14:65787874-65787891
38	NFIC	chr14:65787869-65788778	GM12878	blood:	n/a	n/a
39	MEF2A	chr14:65787829-65788892	GM12878	blood:	n/a	n/a
40	EBF1	chr14:65787513-65788329	GM12878	blood:	n/a	chr14:65787767-65787776 chr14:65787765-65787778 chr14:65787766-65787777 chr14:65787767-65787776 chr14:65787767-65787777
41	NFATC1	chr14:65787414-65788827	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:65787597-65788542	GM12892	blood:	n/a	n/a
43	MEF2C	chr14:65787868-65788770	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:65787646-65788479	GM12878	blood:	n/a	n/a
45	BCL11A	chr14:65787939-65788747	GM12878	blood:	n/a	n/a
46	MTA3	chr14:65787291-65788962	GM12878	blood:	n/a	n/a
47	ATF2	chr14:65787868-65788766	GM12878	blood:	n/a	n/a
48	ATF2	chr14:65787548-65788919	GM12878	blood:	n/a	n/a
49	STAT5A	chr14:65787811-65788783	GM12878	blood:	n/a	n/a
50	PAX5	chr14:65787928-65788499	GM12878	blood:	n/a	chr14:65788184-65788193

No.	Distal block	Cell Line	Cell type
1	chr14:65787866..65790196-chr14:65801828..65804356,2	MCF-7	breast:
2	chr14:65584840..65585848-chr14:65787349..65788348,7	MCF-7	breast:
3	chr14:65786705..65788416-chr14:65789425..65792152,2	MCF-7	breast:
4	chr14:65787676..65790459-chr14:65877446..65879191,2	MCF-7	breast:
5	chr14:65584842..65585718-chr14:65787405..65788348,4	MCF-7	breast:
6	chr14:65584759..65585412-chr14:65787360..65787996,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258760	TF binding region
ENSG00000033170	Chromatin interaction
ENSG00000266740	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10134589	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142617	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144975	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847263	0.81[AFR][1000 genomes]
rs17102587	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902383	0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4902385	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57071950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573600	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156013	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8004239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012054	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8013568	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8017974	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8019473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573604	FUT8	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65785600-65788000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr14:65785600-65788000	Weak transcription	Fetal Thymus	thymus
3	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
4	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:65786200-65788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:65786200-65789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65786200-65789000	Enhancers	NHEK	skin
8	chr14:65786400-65789000	Enhancers	Hela-S3	cervix
9	chr14:65787400-65788200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:65787400-65788400	Enhancers	Fetal Intestine Small	intestine
11	chr14:65787400-65788400	Enhancers	Small Intestine	intestine
12	chr14:65787400-65788600	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:65787400-65788600	Enhancers	A549	lung
14	chr14:65787400-65788800	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:65787400-65789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:65787400-65789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:65787400-65789000	Enhancers	Placenta	Placenta
18	chr14:65787600-65788000	Weak transcription	Thymus	Thymus
19	chr14:65787600-65788200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:65787600-65788200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:65787600-65788400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:65787600-65788400	Enhancers	K562	blood
23	chr14:65787600-65788600	Enhancers	Stomach Mucosa	stomach
24	chr14:65787600-65788800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:65787600-65788800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr14:65787600-65789000	Enhancers	Primary T cells from cord blood	blood
27	chr14:65787600-65789000	Enhancers	HMEC	breast
28	chr14:65787800-65788000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr14:65787800-65788400	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:65787800-65788400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:65787800-65788400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:65787800-65788400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:65787800-65788400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:65787800-65788400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:65787800-65788400	Enhancers	Esophagus	oesophagus
36	chr14:65787800-65788400	Enhancers	Fetal Intestine Large	intestine
37	chr14:65787800-65788400	Enhancers	Lung	lung
38	chr14:65787800-65788400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:65787800-65788400	Enhancers	NHDF-Ad	bronchial
40	chr14:65787800-65788600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:65787800-65788600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:65787800-65788800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:65787800-65789200	Enhancers	Primary T helper cells PMA-I stimulated	--

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