Variant report

Variant	rs10236767
Chromosome Location	chr7:7611849-7611850
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7606446..7610698-chr7:7610910..7617094,11	MCF-7	breast:
2	chr7:7610480..7614145-chr7:7617850..7622479,5	K562	blood:

Variant related genes	Relation type
ENSG00000164654	Chromatin interaction
ENSG00000272894	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10230869	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10486174	0.92[CEU][hapmap]
rs10486179	0.92[CEU][hapmap]
rs10486182	0.92[CEU][hapmap]
rs10952061	0.89[EUR][1000 genomes]
rs11767285	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11771272	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11981494	0.88[CHB][hapmap]
rs12532693	0.88[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs12533006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13244586	0.81[EUR][1000 genomes]
rs13312659	0.92[CEU][hapmap]
rs1544465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1544466	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17151557	0.86[GIH][hapmap]
rs17168463	0.83[GIH][hapmap]
rs17168516	0.84[GIH][hapmap]
rs17168755	0.86[JPT][hapmap]
rs1971649	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2023999	0.83[GIH][hapmap]
rs2108069	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286209	0.84[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2348337	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2348338	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823842	1.00[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs4720740	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724999	0.81[CEU][hapmap]
rs4725000	0.96[CEU][hapmap]
rs6463703	0.85[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs6943655	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6966277	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6968507	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6972842	0.84[CHB][hapmap]
rs6973736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6977450	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6977577	0.96[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs6977800	0.92[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs73674582	0.80[EUR][1000 genomes]
rs7459399	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7778306	0.92[CEU][hapmap]
rs7779415	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794706	0.93[ASN][1000 genomes]
rs7796700	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9690858	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10236767	AIMP2	cis	parietal	SCAN
rs10236767	RADIL	cis	parietal	SCAN
rs10236767	COL28A1	cis	cerebellum	SCAN
rs10236767	COL28A1	cis	parietal	SCAN
rs10236767	MIOS	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7612400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
4	chr7:7607400-7648200	Weak transcription	Lung	lung
5	chr7:7607600-7612000	Weak transcription	Ovary	ovary
6	chr7:7607600-7612200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:7607600-7613400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:7607800-7621400	Weak transcription	Aorta	Aorta
11	chr7:7608000-7612800	Weak transcription	HSMMtube	muscle
12	chr7:7608200-7612200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:7608200-7612400	Weak transcription	Fetal Intestine Large	intestine
14	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:7608400-7648600	Weak transcription	NH-A	brain
17	chr7:7608600-7612200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:7608600-7612200	Weak transcription	HMEC	breast
19	chr7:7608600-7612400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:7608800-7620600	Weak transcription	Fetal Stomach	stomach
21	chr7:7608800-7621200	Weak transcription	Fetal Intestine Small	intestine
22	chr7:7608800-7622200	Weak transcription	HUVEC	blood vessel
23	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:7609000-7612000	Weak transcription	Placenta	Placenta
25	chr7:7609000-7612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:7609000-7612400	Weak transcription	Fetal Brain Female	brain
27	chr7:7609000-7621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:7609000-7621200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:7609200-7612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:7609200-7613200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:7609200-7613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:7609400-7612200	Weak transcription	Thymus	Thymus
33	chr7:7609400-7612400	Weak transcription	Small Intestine	intestine
34	chr7:7609400-7612400	Weak transcription	NHDF-Ad	bronchial
35	chr7:7609400-7612600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:7609400-7621000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:7609400-7621000	Weak transcription	Brain Substantia Nigra	brain
38	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
39	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
40	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:7609600-7612000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:7609600-7612000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:7609600-7612000	Weak transcription	Fetal Kidney	kidney
46	chr7:7609600-7612200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:7609600-7612200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:7609600-7612200	Weak transcription	Liver	Liver
49	chr7:7609600-7612200	Weak transcription	Left Ventricle	heart
50	chr7:7609600-7612200	Weak transcription	Rectal Mucosa Donor 31	rectum

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