Variant report

Variant	rs2514203
Chromosome Location	chr11:57829302-57829303
allele	A/G
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	POLR2A	chr11:57829229-57829678	U87	brain:	n/a	n/a
2	STAT3	chr11:57829270-57829909	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:57828979-57829795	MCF10A-Er-Src	breast:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
4	RCOR1	chr11:57828258-57830293	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:57829198-57829605	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr11:57828783-57829660	HepG2	liver:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
7	TCF12	chr11:57829157-57829853	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:57829229-57829632	U87	brain:	n/a	n/a
9	JUN	chr11:57828829-57829656	HepG2	liver:	n/a	chr11:57829438-57829446 chr11:57829464-57829473 chr11:57829460-57829473
10	CEBPB	chr11:57829149-57829448	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOS	chr11:57828717-57829824	MCF10A-Er-Src	breast:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
12	FOSL2	chr11:57829153-57829793	SK-N-SH	brain:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
13	FOS	chr11:57828797-57829883	MCF10A-Er-Src	breast:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
14	NFIC	chr11:57829146-57829855	SK-N-SH	brain:	n/a	n/a
15	SPI1	chr11:57829291-57829588	GM12891	blood:	n/a	chr11:57829481-57829494 chr11:57829484-57829493 chr11:57829481-57829494
16	GATA2	chr11:57829267-57829627	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr11:57829240-57829795	SK-N-SH	brain:	n/a	chr11:57829438-57829446 chr11:57829464-57829473
18	STAT3	chr11:57829192-57829990	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr11:57829197-57829840	IMR90	lung:	n/a	n/a
20	PBX3	chr11:57829248-57829722	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr11:57829096-57829761	SK-N-SH	brain:	n/a	n/a
22	MYC	chr11:57829196-57829787	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr11:57829158-57829860	SK-N-SH	brain:	n/a	n/a
24	RCOR1	chr11:57828925-57829399	HepG2	liver:	n/a	n/a
25	STAT3	chr11:57829153-57829847	MCF10A-Er-Src	breast:	n/a	n/a
26	ATF1	chr11:57829297-57829610	K562	blood:	n/a	n/a
27	MYBL2	chr11:57828672-57829349	HepG2	liver:	n/a	n/a
28	FOS	chr11:57829276-57829713	MCF10A-Er-Src	breast:	n/a	chr11:57829438-57829446 chr11:57829464-57829473

Variant related genes	Relation type
ENSG00000255146	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11229181	1.00[EUR][1000 genomes]
rs11229182	1.00[EUR][1000 genomes]
rs12273150	1.00[EUR][1000 genomes]
rs12295135	1.00[EUR][1000 genomes]
rs1447176	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17152248	1.00[EUR][1000 genomes]
rs17152254	1.00[EUR][1000 genomes]
rs17152435	1.00[EUR][1000 genomes]
rs17152440	1.00[EUR][1000 genomes]
rs17152444	1.00[EUR][1000 genomes]
rs17152453	1.00[EUR][1000 genomes]
rs17152457	1.00[EUR][1000 genomes]
rs17152464	1.00[EUR][1000 genomes]
rs17152465	1.00[EUR][1000 genomes]
rs17152479	1.00[EUR][1000 genomes]
rs2084298	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2122804	1.00[EUR][1000 genomes]
rs2441954	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs2441978	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2443451	1.00[EUR][1000 genomes]
rs2513723	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2513725	0.81[YRI][hapmap]
rs2514185	1.00[EUR][1000 genomes]
rs2514198	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs686459	1.00[CEU][hapmap]
rs896298	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs896299	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975831	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[EUR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2514203	ACSS1	trans	lymphoblastoid	RTeQTL
rs2514203	C9orf16	trans	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57824600-57830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:57824600-57830600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:57824800-57830000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:57824800-57830200	Enhancers	NHLF	lung
5	chr11:57825000-57830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:57825000-57830600	Enhancers	HMEC	breast
7	chr11:57825200-57830600	Enhancers	NHEK	skin
8	chr11:57825400-57830000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:57825800-57829600	Enhancers	Fetal Intestine Large	intestine
10	chr11:57825800-57830000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:57826200-57829400	Enhancers	HSMM	muscle
12	chr11:57826400-57829400	Weak transcription	NHDF-Ad	bronchial
13	chr11:57826400-57838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
15	chr11:57826600-57830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:57827200-57829400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:57827200-57830000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:57827200-57830200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:57827200-57830200	Enhancers	NH-A	brain
20	chr11:57827200-57830400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:57827200-57830600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:57827400-57829400	Enhancers	Fetal Intestine Small	intestine
23	chr11:57827400-57830000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:57827600-57829800	Weak transcription	Right Atrium	heart
25	chr11:57827600-57830000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:57827600-57830000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:57827600-57830200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:57828200-57829400	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:57828400-57829600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:57828400-57830200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:57828600-57829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:57828600-57829400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:57828600-57835200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:57829000-57829400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:57829000-57830000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:57829000-57830000	Enhancers	Osteobl	bone
37	chr11:57829200-57830400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:57829200-57830800	Enhancers	HepG2	liver

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