Variant report

Variant	rs1703750
Chromosome Location	chr15:42484469-42484470
allele	A/C
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	CEBPB	chr15:42484453-42484486	K562	blood:	n/a	n/a
2	RUNX3	chr15:42484180-42484581	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42478640..42481738-chr15:42484434..42487278,4	K562	blood:

Variant related genes	Relation type
VPS39	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10775126	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10851407	0.88[EUR][1000 genomes]
rs10851408	0.88[EUR][1000 genomes]
rs10851409	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11070370	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs11631917	0.88[EUR][1000 genomes]
rs11631983	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs11638784	0.82[EUR][1000 genomes]
rs12438369	0.90[CEU][hapmap]
rs12438453	0.91[CEU][hapmap]
rs12438562	0.85[EUR][1000 genomes]
rs12441642	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12441700	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs12594162	0.88[EUR][1000 genomes]
rs12917101	0.88[EUR][1000 genomes]
rs1359003	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs1359004	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes]
rs1619030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624183	0.92[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs1626437	0.81[JPT][hapmap]
rs1659212	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs1659213	0.83[CHB][hapmap]
rs1659217	0.85[EUR][1000 genomes]
rs1659218	0.83[CHB][hapmap]
rs1659219	0.82[CHB][hapmap]
rs1659222	0.82[CHB][hapmap]
rs1678985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678989	0.81[JPT][hapmap]
rs1678991	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678992	0.83[CHB][hapmap]
rs1678993	0.83[CHB][hapmap]
rs1679002	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679012	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1703754	0.92[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs1703755	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1712418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1712421	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2138831	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2289295	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[EUR][1000 genomes]
rs2407707	1.00[CEU][hapmap]
rs2412682	0.88[EUR][1000 genomes]
rs2412685	0.88[EUR][1000 genomes]
rs2412705	0.85[EUR][1000 genomes]
rs2620386	0.82[CHB][hapmap]
rs2918459	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[EUR][1000 genomes]
rs2918460	0.83[CHB][hapmap]
rs2918461	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes]
rs3743006	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes]
rs3850774	0.83[EUR][1000 genomes]
rs4329897	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[EUR][1000 genomes]
rs4923940	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[EUR][1000 genomes]
rs4923943	0.88[EUR][1000 genomes]
rs4924645	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4924648	0.88[EUR][1000 genomes]
rs4924653	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[EUR][1000 genomes]
rs4924658	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[EUR][1000 genomes]
rs4924660	0.88[EUR][1000 genomes]
rs4924674	1.00[CEU][hapmap]
rs57002846	0.81[EUR][1000 genomes]
rs58313689	0.87[EUR][1000 genomes]
rs59132828	0.85[EUR][1000 genomes]
rs598360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622714	0.81[ASN][1000 genomes]
rs624841	0.81[ASN][1000 genomes]
rs633934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493027	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[EUR][1000 genomes]
rs660126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678778	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs681029	0.92[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7166785	0.90[CEU][hapmap];0.92[CHB][hapmap]
rs7168709	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs7175863	0.85[EUR][1000 genomes]
rs7177120	0.84[EUR][1000 genomes]
rs7179709	0.83[CHB][hapmap]
rs7181742	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs7183015	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs7183546	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes]
rs73400993	0.83[EUR][1000 genomes]
rs751572	0.90[CEU][hapmap];0.91[CHB][hapmap]
rs765830	0.86[EUR][1000 genomes]
rs8024732	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs8025601	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs8031315	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs8033080	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8036046	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036380	0.85[EUR][1000 genomes]
rs8036596	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs8037020	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs9672382	0.93[EUR][1000 genomes]
rs9920921	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42450600-42485000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:42450600-42486200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42450600-42487400	Strong transcription	Primary B cells from cord blood	blood
4	chr15:42450800-42485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:42450800-42485200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:42451000-42484800	Strong transcription	Fetal Intestine Large	intestine
7	chr15:42451000-42484800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr15:42451000-42485000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:42451000-42485000	Strong transcription	Thymus	Thymus
10	chr15:42451000-42487600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:42451200-42484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:42451200-42484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:42451200-42485800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:42451200-42486200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:42451200-42487600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr15:42451400-42484800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:42451400-42485000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:42451800-42485000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:42452200-42484800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:42452200-42484800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:42452200-42485200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr15:42452600-42484600	Strong transcription	Fetal Thymus	thymus
23	chr15:42457000-42485200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:42457800-42485000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr15:42460000-42499200	Weak transcription	A549	lung
26	chr15:42460000-42499800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:42463200-42484800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:42464200-42484800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:42464400-42484800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:42464400-42484800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:42465600-42486400	Weak transcription	Fetal Heart	heart
32	chr15:42466000-42498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:42467200-42484800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr15:42467400-42484800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:42468200-42485000	Strong transcription	Adipose Nuclei	Adipose
36	chr15:42468400-42484800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:42469000-42485000	Strong transcription	Fetal Stomach	stomach
38	chr15:42469200-42485000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:42469200-42485000	Strong transcription	Primary T cells from cord blood	blood
40	chr15:42469400-42484800	Strong transcription	Osteobl	bone
41	chr15:42469800-42484800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:42470000-42485000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr15:42470200-42484800	Strong transcription	Left Ventricle	heart
44	chr15:42470200-42485000	Strong transcription	Fetal Brain Female	brain
45	chr15:42473400-42484800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:42474000-42484800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:42474400-42485000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:42474600-42484800	Strong transcription	Brain Hippocampus Middle	brain
49	chr15:42474600-42484800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:42474600-42484800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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