Variant report

Variant	rs7807121
Chromosome Location	chr7:7553540-7553541
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	chr7:7551131..7553753-chr7:7566696..7569417,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10085830	0.81[CEU][hapmap]
rs10225403	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs10234561	0.81[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs10236714	0.89[CEU][hapmap]
rs10236946	0.81[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs10244711	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10246954	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs10247676	0.91[CEU][hapmap];0.87[GIH][hapmap];0.80[TSI][hapmap]
rs10250746	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10250756	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10250860	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10255201	0.81[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs10257694	0.81[CEU][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10263223	0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs10263962	0.81[EUR][1000 genomes]
rs10280546	0.81[CEU][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs1029571	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10486160	0.81[CEU][hapmap]
rs10486161	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs10486163	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs10486165	0.81[CEU][hapmap]
rs10486166	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs10486168	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10486171	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs10486173	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10486175	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486176	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772657	0.88[CHB][hapmap];0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs11977826	0.83[CEU][hapmap]
rs12666561	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12668945	0.91[CEU][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12702613	0.81[CEU][hapmap]
rs1294597	0.81[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs1294598	0.81[CEU][hapmap]
rs1294599	0.81[CEU][hapmap]
rs1294603	0.81[CEU][hapmap]
rs13307616	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs13438316	0.90[CEU][hapmap]
rs16878046	0.81[CEU][hapmap]
rs16878052	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs16878455	1.00[CEU][hapmap]
rs17151547	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs17167312	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs17167323	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs17167601	0.81[CEU][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs17167624	0.81[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs17167625	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs17167690	0.81[CEU][hapmap]
rs17167804	0.81[CEU][hapmap];0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs17168096	0.91[CEU][hapmap]
rs17168127	0.82[AMR][1000 genomes]
rs17168144	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17168145	0.80[EUR][1000 genomes]
rs17168152	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17168215	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17168217	0.91[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17168290	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17168295	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17168350	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17168365	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17168367	1.00[CEU][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17168368	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17168369	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17510752	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1997518	0.81[CEU][hapmap]
rs2108065	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2109772	0.81[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs2158755	0.88[JPT][hapmap]
rs2286839	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs28498082	0.81[EUR][1000 genomes]
rs28505765	0.81[AMR][1000 genomes]
rs28753676	0.81[EUR][1000 genomes]
rs3757528	0.91[CEU][hapmap];0.83[TSI][hapmap]
rs3779375	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs4320465	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs4543457	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs55657147	0.82[EUR][1000 genomes]
rs55841745	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55924331	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56220786	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56677263	0.84[EUR][1000 genomes]
rs57090364	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57172214	0.85[EUR][1000 genomes]
rs57521604	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58324484	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58798360	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59521144	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61543470	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6463692	0.81[CEU][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs6945969	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6946064	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs6946913	0.91[CEU][hapmap];0.86[CHD][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947175	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs6948300	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6955328	0.91[CEU][hapmap]
rs6957099	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs6957880	0.91[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs6962455	0.91[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs6963106	0.91[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs6964749	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6965546	0.91[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs6966601	0.90[CEU][hapmap]
rs6967835	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs6968394	0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971414	0.81[AMR][1000 genomes]
rs6971456	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6977661	0.81[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs725934	0.81[CEU][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs73346316	0.84[EUR][1000 genomes]
rs73674580	0.81[EUR][1000 genomes]
rs7459128	1.00[CEU][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs7778212	0.90[CEU][hapmap]
rs7782245	0.80[CEU][hapmap]
rs7793675	0.90[CEU][hapmap]
rs7798119	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7800860	0.82[JPT][hapmap]
rs929378	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs929379	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs972766	1.00[CEU][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	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
3	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv606043	chr7:7473563-7571420	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv887473	chr7:7497676-7604913	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1027872	chr7:7516124-7600842	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1024107	chr7:7516124-7601638	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7807121	COL28A1	cis	parietal	SCAN
rs7807121	MIOS	cis	cerebellum	SCAN
rs7807121	COL28A1	cis	cerebellum	SCAN
rs7807121	MIOS	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7529000-7557600	Weak transcription	Pancreas	Pancrea
3	chr7:7546200-7555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:7546200-7556000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:7551000-7556400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:7551200-7563000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:7551600-7553600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:7551800-7561200	Weak transcription	Placenta	Placenta
9	chr7:7552200-7553800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:7552400-7553600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:7552400-7553600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:7552400-7553600	Enhancers	Stomach Mucosa	stomach
13	chr7:7552400-7553800	Enhancers	Fetal Intestine Large	intestine
14	chr7:7552400-7553800	Enhancers	Fetal Intestine Small	intestine
15	chr7:7552400-7554200	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:7552600-7553600	Enhancers	Fetal Stomach	stomach
17	chr7:7553000-7553600	Enhancers	Osteobl	bone
18	chr7:7553000-7555800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:7553000-7557200	Weak transcription	Fetal Kidney	kidney
20	chr7:7553200-7554800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:7553200-7554800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:7553200-7556000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:7553200-7557200	Weak transcription	NHDF-Ad	bronchial
24	chr7:7553400-7553600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:7553400-7553800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:7553400-7556800	Weak transcription	Muscle Satellite Cultured Cells	--

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