Variant report

Variant	rs6948086
Chromosome Location	chr7:7648951-7648952
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7648154..7650779-chr7:7652193..7654912,3	K562	blood:
2	chr7:7645252..7648963-chr7:7651944..7654788,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10236714	0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs10250880	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11772656	0.93[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13438316	1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs1557996	0.93[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051911	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079387	0.82[ASN][1000 genomes]
rs2158755	0.93[CEU][hapmap]
rs2881867	0.93[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3807857	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs4725006	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777893	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7781543	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7793675	0.97[ASN][1000 genomes]
rs7801325	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6948086	MIOS	cis	parietal	SCAN
rs6948086	RPA3	cis	parietal	SCAN
rs6948086	COL28A1	cis	cerebellum	SCAN
rs6948086	MIOS	cis	cerebellum	SCAN
rs6948086	COL28A1	cis	parietal	SCAN
rs6948086	RADIL	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
3	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
6	chr7:7610600-7654400	Weak transcription	Gastric	stomach
7	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
9	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
10	chr7:7622600-7650400	Weak transcription	HUVEC	blood vessel
11	chr7:7635000-7650000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:7636200-7651400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:7636600-7652000	Weak transcription	Hela-S3	cervix
14	chr7:7637400-7649200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:7637600-7651400	Weak transcription	Thymus	Thymus
16	chr7:7637600-7658000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:7638000-7651600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:7639600-7649000	Weak transcription	Fetal Lung	lung
19	chr7:7639600-7649400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:7639600-7653800	Weak transcription	Fetal Heart	heart
21	chr7:7639600-7657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:7639800-7649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:7639800-7649200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:7639800-7651800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:7639800-7674600	Weak transcription	A549	lung
26	chr7:7640000-7650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:7640000-7651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:7645600-7649000	Strong transcription	Primary B cells from cord blood	blood
29	chr7:7645600-7649000	Strong transcription	HSMM	muscle
30	chr7:7645600-7649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:7645600-7649200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:7645600-7649200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:7645600-7649200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:7645600-7649200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:7645600-7649200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:7645600-7649200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:7645600-7649200	Strong transcription	Adipose Nuclei	Adipose
38	chr7:7645600-7649400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:7645600-7649800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:7645600-7650800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:7645800-7649000	Strong transcription	Osteobl	bone
42	chr7:7646800-7650600	Weak transcription	Fetal Thymus	thymus
43	chr7:7647000-7649000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:7647000-7649200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:7647000-7649400	Weak transcription	Brain Anterior Caudate	brain
46	chr7:7647000-7649400	Weak transcription	HMEC	breast
47	chr7:7647000-7650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:7647000-7650600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:7647000-7651200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr7:7647000-7654000	Weak transcription	Left Ventricle	heart

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