Variant report

Variant	rs2237156
Chromosome Location	chr6:15391208-15391209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15390639..15392366-chr6:15393786..15395577,2	MCF-7	breast:
2	chr6:15380099..15382775-chr6:15390368..15393017,2	K562	blood:
3	chr6:15211485..15213299-chr6:15388946..15391826,2	K562	blood:
4	chr6:15210476..15213974-chr6:15388595..15391826,3	K562	blood:
5	chr6:15390400..15392545-chr6:15407665..15410299,2	MCF-7	breast:
6	chr6:15384835..15386815-chr6:15389020..15391947,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1474588	0.84[CEU][hapmap]
rs2072819	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2076055	0.80[CEU][hapmap]
rs2237121	0.84[MEX][hapmap];0.83[TSI][hapmap]
rs2237124	0.83[MEX][hapmap];0.84[TSI][hapmap]
rs2237141	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2237145	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs2237149	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237150	0.96[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237152	0.84[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2237153	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2237154	0.91[CHB][hapmap]
rs2237155	0.91[CHB][hapmap]
rs2237157	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2237158	0.91[CHB][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs2299045	0.84[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs2299048	0.81[CEU][hapmap]
rs2299053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299056	0.91[CHB][hapmap]
rs3778652	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs4085876	0.84[CEU][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs4109434	0.91[CHB][hapmap]
rs7754701	0.84[CEU][hapmap]
rs9349978	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9358059	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9358060	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370817	0.80[CEU][hapmap]
rs9383051	0.96[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs9383054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9464785	0.92[EUR][1000 genomes]
rs9464787	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9476820	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9476827	0.84[CEU][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1019927	chr6:15351240-15419257	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv538145	chr6:15351240-15419257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2237156	MYL1	trans	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15365000-15402800	Weak transcription	Dnd41	blood
2	chr6:15382600-15393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:15385000-15391800	Enhancers	Primary T cells from cord blood	blood
4	chr6:15385200-15398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:15385400-15393000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:15387000-15391800	Weak transcription	HMEC	breast
7	chr6:15387200-15392400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:15387800-15399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:15388000-15399200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:15388800-15392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:15388800-15392400	Enhancers	Fetal Lung	lung
12	chr6:15388800-15393000	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:15388800-15393000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:15388800-15393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:15388800-15393000	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:15389000-15391400	Enhancers	Spleen	Spleen
17	chr6:15389000-15391600	Enhancers	Fetal Muscle Leg	muscle
18	chr6:15389000-15391800	Enhancers	Fetal Stomach	stomach
19	chr6:15389000-15391800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:15389000-15392200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:15389000-15392200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:15389000-15392200	Enhancers	Adipose Nuclei	Adipose
23	chr6:15389000-15392200	Enhancers	Brain Angular Gyrus	brain
24	chr6:15389000-15392400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:15389000-15392400	Enhancers	Right Ventricle	heart
26	chr6:15389000-15392800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:15389000-15392800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:15389000-15392800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:15389000-15392800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:15389000-15392800	Enhancers	Left Ventricle	heart
31	chr6:15389000-15392800	Enhancers	Psoas Muscle	Psoas
32	chr6:15389000-15392800	Enhancers	Right Atrium	heart
33	chr6:15389000-15393000	Enhancers	Brain Hippocampus Middle	brain
34	chr6:15389000-15393000	Enhancers	Brain Substantia Nigra	brain
35	chr6:15389000-15393000	Enhancers	Fetal Kidney	kidney
36	chr6:15389000-15393200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:15389000-15393400	Enhancers	Fetal Brain Male	brain
38	chr6:15389200-15391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:15389200-15391800	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:15389200-15392000	Enhancers	Brain Germinal Matrix	brain
41	chr6:15389200-15392200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:15389200-15392800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr6:15389200-15393400	Enhancers	Fetal Brain Female	brain
44	chr6:15389400-15391400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:15389400-15392200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:15389400-15392800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:15389400-15393000	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:15389400-15393800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:15389600-15391800	Enhancers	Stomach Mucosa	stomach
50	chr6:15389800-15397600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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