Variant report

Variant	rs68049253
Chromosome Location	chr7:99885221-99885222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081293	0.81[AFR][1000 genomes]
rs10256481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257030	0.97[AFR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	1.00[AMR][1000 genomes]
rs61246011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61611428	1.00[AMR][1000 genomes]
rs6958977	1.00[AMR][1000 genomes]
rs6968343	1.00[AMR][1000 genomes]
rs6970350	1.00[AMR][1000 genomes]
rs73399601	1.00[AMR][1000 genomes]
rs73401410	1.00[AMR][1000 genomes]
rs73401448	1.00[AMR][1000 genomes]
rs73401452	1.00[AMR][1000 genomes]
rs73401466	1.00[AMR][1000 genomes]
rs73401469	1.00[AMR][1000 genomes]
rs73401478	1.00[AMR][1000 genomes]
rs73403324	1.00[AMR][1000 genomes]
rs7796885	1.00[AMR][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	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases
11	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
12	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv1815812	chr7:99874387-99930879	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1803899	chr7:99875357-99930879	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv970913	chr7:99877685-99904859	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:99870200-99932800	Weak transcription	Ovary	ovary
3	chr7:99870400-99886200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:99870400-99901600	Weak transcription	Thymus	Thymus
5	chr7:99870400-99904600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:99870400-99917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:99870400-99917000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:99870400-99917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:99870600-99886400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:99870600-99887800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:99870600-99888400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:99870600-99888600	Weak transcription	GM12878-XiMat	blood
15	chr7:99870600-99890000	Weak transcription	Fetal Thymus	thymus
16	chr7:99870600-99898800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:99870600-99904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:99870600-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
20	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:99870800-99904600	Weak transcription	Dnd41	blood
23	chr7:99871000-99886200	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:99871000-99917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
26	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
27	chr7:99880400-99917800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:99882000-99903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:99882200-99885400	Weak transcription	Esophagus	oesophagus
30	chr7:99882200-99897200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:99883600-99886800	Strong transcription	Fetal Stomach	stomach
32	chr7:99883800-99885600	Strong transcription	Fetal Intestine Small	intestine
33	chr7:99884400-99916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:99884600-99888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:99885000-99885400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:99885000-99885600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:99885000-99885600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:99885000-99885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:99885200-99885400	Enhancers	Skeletal Muscle Male	skeletal muscle

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