Variant report

Variant	rs1703755
Chromosome Location	chr15:42505176-42505177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42503423..42505275-chr15:42506860..42509777,2	K562	blood:
2	chr15:42503775..42505358-chr15:42508277..42510017,2	K562	blood:
3	chr15:42499311..42503091-chr15:42504609..42507000,4	MCF-7	breast:
4	chr15:42500866..42502665-chr15:42505005..42506653,2	K562	blood:

Variant related genes	Relation type
ENSG00000166887	Chromatin interaction
ENSG00000261002	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10775126	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10851407	0.89[EUR][1000 genomes]
rs10851408	0.89[EUR][1000 genomes]
rs10851409	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11070370	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs11631917	0.89[EUR][1000 genomes]
rs11631983	0.91[CEU][hapmap];0.92[CHB][hapmap];0.88[EUR][1000 genomes]
rs12438369	0.90[CEU][hapmap]
rs12438453	0.82[CEU][hapmap]
rs12438562	0.82[EUR][1000 genomes]
rs12441642	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs12441700	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs12594162	0.89[EUR][1000 genomes]
rs12917101	0.89[EUR][1000 genomes]
rs1359003	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs1359004	0.91[CEU][hapmap];0.92[CHB][hapmap]
rs1619030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624183	0.92[CHB][hapmap];0.87[YRI][hapmap]
rs1659212	0.91[CEU][hapmap];0.92[CHB][hapmap]
rs1659213	0.83[CHB][hapmap]
rs1659217	0.82[EUR][1000 genomes]
rs1659218	0.83[CHB][hapmap]
rs1659219	0.82[CHB][hapmap]
rs1659222	0.82[CHB][hapmap]
rs1678985	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678991	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678992	0.83[CHB][hapmap]
rs1678993	0.83[CHB][hapmap]
rs1679002	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1679009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1679010	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1679012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1703750	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]
rs1703754	0.92[CHB][hapmap]
rs1712418	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1712421	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2138831	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2289295	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs2407707	0.91[CEU][hapmap]
rs2412682	0.89[EUR][1000 genomes]
rs2412685	0.89[EUR][1000 genomes]
rs2412705	0.82[EUR][1000 genomes]
rs2620386	0.82[CHB][hapmap]
rs2918459	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs2918460	0.83[CHB][hapmap]
rs2918461	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs3743006	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs4329897	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs4923940	0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs4923943	0.84[EUR][1000 genomes]
rs4924645	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4924648	0.89[EUR][1000 genomes]
rs4924653	0.88[CEU][hapmap];0.92[CHB][hapmap];0.81[EUR][1000 genomes]
rs4924658	0.90[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs4924660	0.84[EUR][1000 genomes]
rs4924674	1.00[CEU][hapmap]
rs58313689	0.88[EUR][1000 genomes]
rs59132828	0.82[EUR][1000 genomes]
rs598360	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs622442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633934	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493027	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs660126	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677878	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678778	0.92[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs681029	0.92[CHB][hapmap]
rs7086	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7163986	0.81[CEU][hapmap];0.91[CHB][hapmap]
rs7166785	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs7168709	0.91[CEU][hapmap];0.92[CHB][hapmap]
rs7175863	0.82[EUR][1000 genomes]
rs7177120	0.81[EUR][1000 genomes]
rs7179709	0.83[CHB][hapmap]
rs7181742	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs7183015	0.90[CEU][hapmap];0.92[CHB][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs7183546	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs751572	0.90[CEU][hapmap];0.91[CHB][hapmap]
rs765830	0.82[EUR][1000 genomes]
rs8024113	0.92[CHB][hapmap]
rs8024732	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs8025601	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs8031315	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs8033080	0.91[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8036046	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036187	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036380	0.82[EUR][1000 genomes]
rs8036596	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs8037020	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs9672382	0.94[EUR][1000 genomes]
rs9920921	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[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	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
6	nsv1054102	chr15:42493052-42528765	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500600-42505200	Weak transcription	Spleen	Spleen
2	chr15:42500600-42513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
4	chr15:42501000-42505200	Weak transcription	Fetal Brain Male	brain
5	chr15:42501000-42508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:42501000-42510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:42501000-42510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:42501000-42510800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:42501000-42511000	Weak transcription	Colonic Mucosa	Colon
10	chr15:42501000-42512600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:42501000-42512800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:42501000-42513600	Strong transcription	HSMM	muscle
13	chr15:42501000-42518600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:42501000-42518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:42501000-42520800	Weak transcription	Psoas Muscle	Psoas
16	chr15:42501000-42534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:42501000-42536600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:42501000-42536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:42501000-42538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:42501200-42505400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:42501200-42505600	Strong transcription	NHLF	lung
22	chr15:42501200-42506000	Strong transcription	GM12878-XiMat	blood
23	chr15:42501200-42513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:42501200-42514200	Weak transcription	Right Ventricle	heart
25	chr15:42501200-42514600	Weak transcription	Pancreas	Pancrea
26	chr15:42501200-42523200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:42501200-42532400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr15:42501400-42506000	Strong transcription	Placenta	Placenta
29	chr15:42501400-42508200	Strong transcription	HSMMtube	muscle
30	chr15:42501400-42512600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:42501400-42512800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:42501400-42513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:42501600-42505800	Strong transcription	NHEK	skin
34	chr15:42501600-42506000	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr15:42501600-42507000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:42501600-42512600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:42501600-42512800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:42501600-42513000	Strong transcription	Liver	Liver
39	chr15:42501800-42536800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:42502000-42505200	Strong transcription	Brain Hippocampus Middle	brain
41	chr15:42502000-42505800	Strong transcription	Fetal Brain Female	brain
42	chr15:42502000-42507000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr15:42502000-42511400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:42502000-42512600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:42502000-42512800	Strong transcription	Osteobl	bone
46	chr15:42502000-42521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:42502000-42535000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:42502200-42505600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:42502200-42505600	Strong transcription	Fetal Kidney	kidney
50	chr15:42502200-42505800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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