Variant report

Variant	rs2137977
Chromosome Location	chr15:77575505-77575506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77573695..77576435-chr15:77580239..77581887,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1015813	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10519158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11853625	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11853633	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11853696	0.81[ASN][1000 genomes]
rs11854182	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11854466	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11856513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11856538	0.88[JPT][hapmap]
rs11857330	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11857804	0.97[EUR][1000 genomes]
rs12148274	0.82[ASN][1000 genomes]
rs12324211	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs12324366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12902446	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12912963	0.82[ASN][1000 genomes]
rs13379686	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13380152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13380202	0.85[ASN][1000 genomes]
rs1374201	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1446313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16968730	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17381652	0.85[CHB][hapmap]
rs17381821	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17383078	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17384809	0.85[ASN][1000 genomes]
rs17385059	0.85[ASN][1000 genomes]
rs17385296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17385352	0.85[ASN][1000 genomes]
rs17468413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17470529	0.83[ASN][1000 genomes]
rs17470952	0.81[ASN][1000 genomes]
rs17471480	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17471697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs1867780	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2044453	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2292594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2307141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28437977	0.83[ASN][1000 genomes]
rs2864079	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2864840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs34572155	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3784787	0.83[ASN][1000 genomes]
rs3784788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4592615	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4638539	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4886852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4886857	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886864	0.83[ASN][1000 genomes]
rs4886865	0.83[ASN][1000 genomes]
rs55881066	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55994208	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56070388	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58792939	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59831220	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60079927	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60761381	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60863150	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7163620	0.93[ASN][1000 genomes]
rs7173670	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7182221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74025074	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74025104	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74025105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74026913	0.80[ASN][1000 genomes]
rs74027548	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74027549	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7496431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8035526	0.83[ASN][1000 genomes]
rs907398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9806326	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1044270	chr15:77534919-77611256	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542445	chr15:77534919-77611256	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv869991	chr15:77545316-77578885	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv33934	chr15:77548764-77579524	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2137977	TSPAN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77520200-77578800	Weak transcription	Small Intestine	intestine
2	chr15:77527000-77576200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:77528800-77577200	Weak transcription	Spleen	Spleen
4	chr15:77528800-77579200	Weak transcription	Brain Angular Gyrus	brain
5	chr15:77541800-77589800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:77542200-77580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:77544400-77581000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:77544600-77589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:77545200-77576200	Weak transcription	HSMM	muscle
10	chr15:77559400-77578800	Weak transcription	Ovary	ovary
11	chr15:77559600-77576200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:77559600-77578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:77559800-77579400	Weak transcription	Brain Anterior Caudate	brain
14	chr15:77559800-77585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:77560000-77576600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:77562000-77580200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:77562200-77576000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:77562200-77589600	Weak transcription	Primary T cells from cord blood	blood
19	chr15:77563400-77577400	Weak transcription	Fetal Kidney	kidney
20	chr15:77565200-77576400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:77565400-77578800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:77566000-77576400	Weak transcription	Fetal Intestine Large	intestine
23	chr15:77567600-77580200	Weak transcription	Fetal Lung	lung
24	chr15:77568400-77578600	Weak transcription	Esophagus	oesophagus
25	chr15:77568800-77578000	Weak transcription	Thymus	Thymus
26	chr15:77570000-77579400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:77570400-77576400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:77571600-77576400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:77571800-77578800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:77571800-77579400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:77571800-77579600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:77571800-77585600	Weak transcription	Right Ventricle	heart
33	chr15:77572000-77578600	Weak transcription	Placenta	Placenta
34	chr15:77572000-77582000	Weak transcription	Left Ventricle	heart
35	chr15:77572200-77580000	Weak transcription	HSMMtube	muscle
36	chr15:77572600-77580800	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:77573000-77577800	Weak transcription	K562	blood
38	chr15:77573200-77575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:77573400-77576000	Weak transcription	Dnd41	blood
40	chr15:77573400-77576200	Weak transcription	Liver	Liver
41	chr15:77573600-77576400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:77573600-77578600	Weak transcription	Primary B cells from cord blood	blood
43	chr15:77573600-77580600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr15:77573600-77589400	Weak transcription	Fetal Stomach	stomach
45	chr15:77573800-77576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:77574000-77576800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:77574200-77575600	Enhancers	Rectal Smooth Muscle	rectum
48	chr15:77574200-77575800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:77574200-77576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:77574200-77576400	Enhancers	NHDF-Ad	bronchial

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