Variant report

Variant	rs11975850
Chromosome Location	chr7:7651358-7651359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7650609..7654175-chr7:7655062..7657334,4	K562	blood:
2	chr7:7644642..7646276-chr7:7649240..7651895,2	K562	blood:

Variant related genes	Relation type
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11971028	0.82[EUR][1000 genomes]
rs11975945	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11977239	0.91[EUR][1000 genomes]
rs11981494	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16878582	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17168333	0.81[CEU][hapmap]
rs17168584	0.83[EUR][1000 genomes]
rs17168755	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs17168783	0.91[EUR][1000 genomes]
rs17523883	0.87[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2286210	0.93[EUR][1000 genomes]
rs3757533	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs56806536	0.93[EUR][1000 genomes]
rs6463699	0.81[CEU][hapmap]
rs6956562	0.93[EUR][1000 genomes]
rs6967447	0.81[CEU][hapmap]
rs6972842	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7787734	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7796672	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7804360	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9690845	0.91[EUR][1000 genomes]
rs9690858	0.80[CEU][hapmap];0.91[EUR][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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
2	chr7:7610600-7654400	Weak transcription	Gastric	stomach
3	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
5	chr7:7636200-7651400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:7636600-7652000	Weak transcription	Hela-S3	cervix
7	chr7:7637600-7651400	Weak transcription	Thymus	Thymus
8	chr7:7637600-7658000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:7638000-7651600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:7639600-7653800	Weak transcription	Fetal Heart	heart
11	chr7:7639600-7657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:7639800-7651800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:7639800-7674600	Weak transcription	A549	lung
14	chr7:7647000-7654000	Weak transcription	Left Ventricle	heart
15	chr7:7647000-7656800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:7647200-7651800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:7647200-7652400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:7647200-7656400	Weak transcription	Dnd41	blood
19	chr7:7647400-7651600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:7647600-7652200	Weak transcription	Placenta	Placenta
21	chr7:7647600-7653800	Weak transcription	K562	blood
22	chr7:7647800-7651400	Weak transcription	Fetal Brain Female	brain
23	chr7:7647800-7651600	Weak transcription	Fetal Kidney	kidney
24	chr7:7647800-7651800	Weak transcription	NHDF-Ad	bronchial
25	chr7:7647800-7652600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:7647800-7655600	Weak transcription	GM12878-XiMat	blood
27	chr7:7647800-7657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:7648000-7656600	Weak transcription	Primary T cells from cord blood	blood
29	chr7:7648200-7651800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:7648600-7651400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:7648600-7652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:7648600-7652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:7648600-7660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:7648800-7651800	Weak transcription	NH-A	brain
35	chr7:7649000-7679000	Weak transcription	HSMM	muscle
36	chr7:7649200-7652600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:7649200-7653000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:7649200-7653000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:7649200-7654200	Weak transcription	Adipose Nuclei	Adipose
40	chr7:7649200-7657600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:7649400-7651600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:7649800-7657800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:7650200-7657200	Weak transcription	Primary B cells from cord blood	blood
44	chr7:7650800-7652800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:7651200-7653000	Weak transcription	Muscle Satellite Cultured Cells	--

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