Variant report

Variant	rs6977661
Chromosome Location	chr7:7454163-7454164
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	chr7:7446277..7450841-chr7:7451007..7455027,4	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10085771	0.87[EUR][1000 genomes]
rs10085830	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10225403	1.00[CEU][hapmap]
rs10226811	0.84[EUR][1000 genomes]
rs10229355	0.81[EUR][1000 genomes]
rs10234561	1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10234818	0.85[EUR][1000 genomes]
rs10236946	1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap]
rs10244711	0.89[CEU][hapmap]
rs10246954	1.00[CEU][hapmap]
rs10247676	0.91[CEU][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs10248825	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250746	0.91[CEU][hapmap]
rs10250756	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs10255190	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10255201	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10257694	1.00[CEU][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs10263223	1.00[CEU][hapmap]
rs10268438	0.87[EUR][1000 genomes]
rs10269244	0.88[EUR][1000 genomes]
rs10280546	1.00[CEU][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs10486160	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486161	1.00[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10486163	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486165	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10486166	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs10486168	0.91[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs10486171	0.91[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs10486173	0.91[CEU][hapmap]
rs10486175	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs10486176	0.81[CEU][hapmap]
rs11977826	0.83[CEU][hapmap]
rs12668945	0.91[CEU][hapmap]
rs12702613	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1294597	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1294598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1294599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1294601	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1294602	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1294603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1296103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227277	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13307616	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16878046	1.00[CEU][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16878052	1.00[CEU][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16878062	0.88[EUR][1000 genomes]
rs16878455	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs17151541	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17151547	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17167312	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17167323	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17167601	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17167624	1.00[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17167625	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17167690	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17167804	1.00[CEU][hapmap]
rs17168096	0.91[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs17168127	0.85[EUR][1000 genomes]
rs17168144	0.83[EUR][1000 genomes]
rs17168145	0.83[EUR][1000 genomes]
rs17168152	0.91[CEU][hapmap]
rs17168215	0.83[EUR][1000 genomes]
rs17168217	0.91[CEU][hapmap]
rs17168290	0.81[CEU][hapmap]
rs17168295	0.81[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap]
rs17168350	0.81[CEU][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs17168367	0.81[CEU][hapmap]
rs17168368	0.81[CEU][hapmap]
rs17168369	0.81[CEU][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs17510752	0.81[CEU][hapmap]
rs1860725	0.87[EUR][1000 genomes]
rs1997518	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2108065	0.81[CEU][hapmap]
rs2109772	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2286839	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28399265	0.81[EUR][1000 genomes]
rs28493883	0.85[EUR][1000 genomes]
rs28505765	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28669774	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34889595	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35462098	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757528	0.81[GIH][hapmap];0.92[TSI][hapmap]
rs3779375	0.81[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs4320465	0.81[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.96[TSI][hapmap]
rs4543457	0.91[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs55798422	0.87[EUR][1000 genomes]
rs55827101	0.87[EUR][1000 genomes]
rs55980077	0.87[EUR][1000 genomes]
rs56022797	0.85[EUR][1000 genomes]
rs56084871	0.87[EUR][1000 genomes]
rs56330916	0.87[EUR][1000 genomes]
rs57521604	0.83[EUR][1000 genomes]
rs57930817	0.85[EUR][1000 genomes]
rs58324484	0.81[EUR][1000 genomes]
rs60020853	0.87[EUR][1000 genomes]
rs60120688	0.87[EUR][1000 genomes]
rs60314248	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60668247	0.85[EUR][1000 genomes]
rs60977515	0.85[EUR][1000 genomes]
rs61543470	0.83[EUR][1000 genomes]
rs6463692	1.00[CEU][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs6945969	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6946064	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6946913	1.00[TSI][hapmap]
rs6947175	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6948300	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6949534	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6953394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955328	0.91[CEU][hapmap]
rs6957099	1.00[CEU][hapmap]
rs6957880	0.91[CEU][hapmap];0.80[CHD][hapmap];0.92[TSI][hapmap]
rs6960158	0.83[EUR][1000 genomes]
rs6962455	0.91[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6963106	0.91[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6964749	0.83[EUR][1000 genomes]
rs6965546	0.91[CEU][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6967835	1.00[CEU][hapmap]
rs6968394	0.90[CEU][hapmap]
rs6971367	0.87[EUR][1000 genomes]
rs6971414	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6971456	0.91[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs6972142	0.87[EUR][1000 genomes]
rs6975571	0.87[EUR][1000 genomes]
rs6979055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725933	0.85[EUR][1000 genomes]
rs725934	1.00[CEU][hapmap];0.80[CHD][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs73334107	0.86[EUR][1000 genomes]
rs73346330	0.87[EUR][1000 genomes]
rs7459128	0.81[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7778212	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7780426	0.87[EUR][1000 genomes]
rs7780713	0.90[EUR][1000 genomes]
rs7789255	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7798119	0.81[CEU][hapmap]
rs7804915	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7807121	0.81[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs7812265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929378	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs972766	0.81[CEU][hapmap];0.94[CHD][hapmap];0.96[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	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
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6977661	MIOS	cis	parietal	SCAN
rs6977661	COL28A1	cis	cerebellum	SCAN
rs6977661	FBXL18	cis	cerebellum	SCAN
rs6977661	COL28A1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7447800-7463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:7447800-7464200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7448800-7455000	Weak transcription	Stomach Mucosa	stomach
4	chr7:7451200-7464000	Weak transcription	Gastric	stomach
5	chr7:7452600-7456400	Enhancers	Fetal Intestine Large	intestine
6	chr7:7452800-7457000	Enhancers	Fetal Intestine Small	intestine
7	chr7:7453600-7457000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:7453800-7454200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr7:7453800-7455400	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:7454000-7454200	Flanking Active TSS	Colonic Mucosa	Colon
11	chr7:7454000-7454400	Enhancers	Small Intestine	intestine
12	chr7:7454000-7454600	Enhancers	Rectal Mucosa Donor 29	rectum

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