Variant report

Variant	rs16977318
Chromosome Location	chr15:57510907-57510908
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	MXI1	chr15:57509838-57512067	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57508073..57512585-chr15:57540435..57543693,4	K562	blood:

Variant related genes	Relation type
TCF12	TF binding region
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1020890	1.00[ASW][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs10518903	1.00[AMR][1000 genomes]
rs12101548	1.00[AMR][1000 genomes]
rs12102210	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs1350906	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1381557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1462155	1.00[ASW][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs16977249	1.00[AMR][1000 genomes]
rs16977287	1.00[AMR][1000 genomes]
rs16977313	1.00[AMR][1000 genomes]
rs16977342	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs16977346	1.00[AMR][1000 genomes]
rs16977350	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16977357	1.00[AMR][1000 genomes]
rs16977361	1.00[AMR][1000 genomes]
rs16977392	1.00[AMR][1000 genomes]
rs16977394	1.00[AMR][1000 genomes]
rs2011721	1.00[AMR][1000 genomes]
rs2126399	1.00[ASW][hapmap];0.86[MKK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585077	1.00[AMR][1000 genomes]
rs2591072	1.00[AMR][1000 genomes]
rs2591074	1.00[AMR][1000 genomes]
rs2615216	1.00[AMR][1000 genomes]
rs2615217	1.00[AMR][1000 genomes]
rs2615232	1.00[AMR][1000 genomes]
rs2615249	0.82[AFR][1000 genomes]
rs2733197	1.00[AMR][1000 genomes]
rs2733302	1.00[AMR][1000 genomes]
rs28404473	1.00[AMR][1000 genomes]
rs28495648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59762811	1.00[AMR][1000 genomes]
rs60129657	1.00[AMR][1000 genomes]
rs8031933	1.00[AMR][1000 genomes]
rs8037049	1.00[AMR][1000 genomes]
rs8039780	1.00[AMR][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	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
3	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
5	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
6	chr15:57487200-57511200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:57488200-57511600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:57491400-57511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:57491600-57515200	Weak transcription	GM12878-XiMat	blood
10	chr15:57492400-57511600	Weak transcription	Left Ventricle	heart
11	chr15:57501200-57524400	Weak transcription	Thymus	Thymus
12	chr15:57505200-57511400	Enhancers	Fetal Lung	lung
13	chr15:57506000-57511600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:57506600-57511000	Weak transcription	Fetal Intestine Small	intestine
15	chr15:57506800-57511400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr15:57507000-57519800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:57507400-57511200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:57507400-57511800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:57507600-57511000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:57508000-57511200	Enhancers	Stomach Mucosa	stomach
21	chr15:57508200-57522800	Weak transcription	Fetal Thymus	thymus
22	chr15:57508600-57511000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:57508600-57511200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:57508600-57511200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:57508600-57511600	Weak transcription	Aorta	Aorta
26	chr15:57508600-57512600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:57508600-57524400	Weak transcription	HepG2	liver
28	chr15:57508800-57511600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr15:57508800-57511600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:57508800-57511600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:57508800-57515200	Weak transcription	K562	blood
32	chr15:57509200-57511000	Weak transcription	A549	lung
33	chr15:57509200-57526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:57509600-57511800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:57509600-57514200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:57509800-57511000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr15:57509800-57511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:57509800-57511600	Enhancers	Fetal Stomach	stomach
39	chr15:57509800-57512000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:57510000-57511000	Active TSS	HSMMtube	muscle
41	chr15:57510000-57511200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr15:57510000-57511400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:57510000-57511400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:57510000-57511600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr15:57510000-57511800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:57510000-57511800	Enhancers	Primary B cells from peripheral blood	blood
47	chr15:57510000-57511800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:57510000-57511800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:57510000-57511800	Enhancers	Colon Smooth Muscle	Colon
50	chr15:57510000-57511800	Enhancers	Skeletal Muscle Female	skeletal muscle

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