Variant report

Variant	rs11247081
Chromosome Location	chr15:99865097-99865098
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	MAX	chr15:99864081-99865273	A549	lung:	n/a	n/a
2	MAFF	chr15:99864985-99865195	HepG2	liver:	n/a	chr15:99865123-99865141
3	STAT3	chr15:99864131-99865129	Hela-S3	cervix:	n/a	chr15:99865069-99865080
4	BCL3	chr15:99863946-99865300	A549	lung:	n/a	n/a
5	SP1	chr15:99863948-99865275	A549	lung:	n/a	n/a
6	E2F4	chr15:99864233-99865141	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr15:99864217-99865210	Hela-S3	cervix:	n/a	chr15:99865125-99865135
8	GATA3	chr15:99863925-99865178	A549	lung:	n/a	n/a
9	MAFK	chr15:99864246-99865268	IMR90	lung:	n/a	chr15:99865125-99865135
10	MAFK	chr15:99864962-99865250	HepG2	liver:	n/a	chr15:99865125-99865135
11	MAFF	chr15:99864934-99865270	K562	blood:	n/a	chr15:99865123-99865141
12	MAX	chr15:99863977-99865316	A549	lung:	n/a	n/a
13	JUN	chr15:99864148-99865121	Hela-S3	cervix:	n/a	chr15:99864980-99864989
14	TCF12	chr15:99863854-99865392	A549	lung:	n/a	n/a
15	STAT3	chr15:99865095-99865133	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr15:99864666-99865224	HepG2	liver:	n/a	chr15:99864948-99864963 chr15:99864941-99864953 chr15:99864923-99864935
17	EP300	chr15:99863966-99865304	A549	lung:	n/a	chr15:99865125-99865132 chr15:99864949-99864959 chr15:99864940-99864950
18	SP1	chr15:99863540-99865295	A549	lung:	n/a	n/a
19	FOXA2	chr15:99863813-99865262	A549	lung:	n/a	chr15:99864941-99864953 chr15:99864923-99864935 chr15:99864240-99864252
20	NFIC	chr15:99864017-99865105	ECC-1	luminal epithelium:	n/a	n/a
21	SP1	chr15:99864092-99865110	HCT-116	colon:	n/a	n/a
22	MAFK	chr15:99864952-99865275	HepG2	liver:	n/a	chr15:99865125-99865135
23	EP300	chr15:99863826-99865396	A549	lung:	n/a	chr15:99865125-99865132 chr15:99864949-99864959 chr15:99864940-99864950
24	EP300	chr15:99864125-99865220	Hela-S3	cervix:	n/a	chr15:99865125-99865132 chr15:99864949-99864959 chr15:99864940-99864950
25	STAT3	chr15:99864876-99865786	MCF10A-Er-Src	breast:	n/a	chr15:99865069-99865080

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99856389..99859314-chr15:99863031..99866195,3	MCF-7	breast:

Variant related genes	Relation type
LRRC28	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1033035	0.99[ASN][1000 genomes]
rs1033036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10902544	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11247074	0.87[AFR][1000 genomes]
rs11247075	0.87[AFR][1000 genomes]
rs11247079	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11853278	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592075	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12913897	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1472989	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812344	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1876927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175225	0.94[ASN][1000 genomes]
rs28520505	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696045	0.86[AFR][1000 genomes]
rs3851679	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3863401	0.98[ASN][1000 genomes]
rs58946939	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6598237	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6598238	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7167119	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7167542	0.94[ASN][1000 genomes]
rs7167899	0.86[ASN][1000 genomes]
rs7168227	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169906	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7171970	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173844	0.92[ASN][1000 genomes]
rs7181739	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7182425	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7182675	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8036160	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8040850	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8041923	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8042249	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8042667	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
18	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
20	esv3426665	chr15:99862575-99866059	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99793000-99866600	Weak transcription	Gastric	stomach
2	chr15:99833200-99875800	Weak transcription	Thymus	Thymus
3	chr15:99847400-99877200	Weak transcription	Ovary	ovary
4	chr15:99853000-99876000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:99853200-99875400	Weak transcription	Fetal Thymus	thymus
6	chr15:99853600-99875800	Weak transcription	Fetal Intestine Large	intestine
7	chr15:99854400-99876000	Weak transcription	Dnd41	blood
8	chr15:99858600-99876600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:99859400-99906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:99860600-99867200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:99860600-99867200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:99860600-99869200	Enhancers	HepG2	liver
13	chr15:99861000-99865600	Weak transcription	Psoas Muscle	Psoas
14	chr15:99861800-99876600	Weak transcription	Primary T cells from cord blood	blood
15	chr15:99862800-99865400	Flanking Active TSS	A549	lung
16	chr15:99863000-99865400	Enhancers	HSMM	muscle
17	chr15:99863000-99866800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:99863200-99881200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:99863200-99899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:99863400-99865200	Enhancers	NHLF	lung
21	chr15:99863600-99866000	Enhancers	Liver	Liver
22	chr15:99863800-99865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:99863800-99865200	Enhancers	Fetal Heart	heart
24	chr15:99864000-99865200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr15:99864000-99865200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr15:99864200-99865800	ZNF genes & repeats	GM12878-XiMat	blood
27	chr15:99864400-99902200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:99864600-99865200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr15:99864600-99865200	Enhancers	HSMMtube	muscle
30	chr15:99864600-99877200	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:99864800-99865200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:99864800-99865200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:99864800-99865200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:99864800-99865200	Enhancers	Adipose Nuclei	Adipose
35	chr15:99864800-99865200	Flanking Active TSS	HMEC	breast
36	chr15:99864800-99865200	Flanking Active TSS	Osteobl	bone
37	chr15:99864800-99865600	Weak transcription	Esophagus	oesophagus
38	chr15:99864800-99866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:99864800-99866600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:99864800-99866800	Enhancers	Left Ventricle	heart
41	chr15:99864800-99867200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:99864800-99867200	Enhancers	NHEK	skin
43	chr15:99864800-99881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:99864800-99884200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:99865000-99865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:99865000-99865400	Enhancers	NH-A	brain
47	chr15:99865000-99866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:99865000-99866800	Enhancers	Hela-S3	cervix

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