Variant report

Variant	rs1712406
Chromosome Location	chr15:42504202-42504203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42503423..42505275-chr15:42506860..42509777,2	K562	blood:
2	chr15:42503775..42505358-chr15:42508277..42510017,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10152909	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070363	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324804	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12440779	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12442769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915387	0.96[ASN][1000 genomes]
rs12915946	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12916523	0.81[AFR][1000 genomes]
rs12917071	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1616957	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619537	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626437	0.94[ASN][1000 genomes]
rs1630294	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678987	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678988	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678989	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678990	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1679000	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1679001	0.92[ASN][1000 genomes]
rs1679008	0.92[ASN][1000 genomes]
rs1679011	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1703748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1703751	0.90[ASN][1000 genomes]
rs1703753	0.92[ASN][1000 genomes]
rs1712390	0.94[ASN][1000 genomes]
rs1712391	0.92[ASN][1000 genomes]
rs1712397	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1712407	0.92[ASN][1000 genomes]
rs1712408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1712409	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1712410	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1712417	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1712420	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1712422	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1712442	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412671	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412674	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2620378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2620379	0.92[ASN][1000 genomes]
rs2620380	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2620381	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2620383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620387	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663092	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677751	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28767320	0.88[ASN][1000 genomes]
rs2928333	0.92[ASN][1000 genomes]
rs4268723	0.81[AFR][1000 genomes]
rs4923934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924635	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4924636	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924638	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs583541	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs588695	0.90[ASN][1000 genomes]
rs590540	0.92[ASN][1000 genomes]
rs593910	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs598441	0.90[ASN][1000 genomes]
rs602270	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609660	0.90[ASN][1000 genomes]
rs613090	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613131	0.90[ASN][1000 genomes]
rs613157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614774	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs615023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs616071	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621365	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627478	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629255	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs633310	0.96[ASN][1000 genomes]
rs633483	0.92[ASN][1000 genomes]
rs635617	0.92[ASN][1000 genomes]
rs635669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs635690	0.94[ASN][1000 genomes]
rs635919	0.92[ASN][1000 genomes]
rs636604	0.94[ASN][1000 genomes]
rs637445	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs638240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641119	0.92[ASN][1000 genomes]
rs644627	0.94[ASN][1000 genomes]
rs645304	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647581	0.92[ASN][1000 genomes]
rs648720	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650910	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660033	0.92[ASN][1000 genomes]
rs663454	0.92[ASN][1000 genomes]
rs665262	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs665718	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs668973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670329	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670421	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs672946	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677845	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677895	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs683227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685521	0.92[ASN][1000 genomes]
rs7169941	0.82[AFR][1000 genomes]
rs7181577	0.92[ASN][1000 genomes]
rs8023678	0.88[AFR][1000 genomes]
rs8023923	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8024390	0.81[AFR][1000 genomes]
rs8030650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8031735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036917	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783720	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	chr15:42501000-42505000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:42501000-42505200	Weak transcription	Fetal Brain Male	brain
6	chr15:42501000-42508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:42501000-42510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:42501000-42510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:42501000-42510800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:42501000-42511000	Weak transcription	Colonic Mucosa	Colon
11	chr15:42501000-42512600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:42501000-42512800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:42501000-42513600	Strong transcription	HSMM	muscle
14	chr15:42501000-42518600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:42501000-42518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:42501000-42520800	Weak transcription	Psoas Muscle	Psoas
17	chr15:42501000-42534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:42501000-42536600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:42501000-42536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:42501000-42538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:42501200-42505000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:42501200-42505400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:42501200-42505600	Strong transcription	NHLF	lung
24	chr15:42501200-42506000	Strong transcription	GM12878-XiMat	blood
25	chr15:42501200-42513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:42501200-42514200	Weak transcription	Right Ventricle	heart
27	chr15:42501200-42514600	Weak transcription	Pancreas	Pancrea
28	chr15:42501200-42523200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:42501200-42532400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:42501400-42504800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:42501400-42506000	Strong transcription	Placenta	Placenta
32	chr15:42501400-42508200	Strong transcription	HSMMtube	muscle
33	chr15:42501400-42512600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:42501400-42512800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:42501400-42513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:42501600-42505800	Strong transcription	NHEK	skin
37	chr15:42501600-42506000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr15:42501600-42507000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:42501600-42512600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:42501600-42512800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:42501600-42513000	Strong transcription	Liver	Liver
42	chr15:42501800-42536800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:42502000-42505000	Strong transcription	HMEC	breast
44	chr15:42502000-42505200	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:42502000-42505800	Strong transcription	Fetal Brain Female	brain
46	chr15:42502000-42507000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:42502000-42511400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:42502000-42512600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr15:42502000-42512800	Strong transcription	Osteobl	bone
50	chr15:42502000-42521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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