Variant report

Variant	rs3980880
Chromosome Location	chr7:66750999-66751000
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10950063	0.93[AFR][1000 genomes]
rs17180957	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv8129	chr7:66735416-66766669	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv13926	chr7:66735980-66767830	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv15711	chr7:66739334-66760817	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1815733	chr7:66740199-66764833	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1816968	chr7:66740199-66764833	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1849318	chr7:66740199-66764833	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1849777	chr7:66740451-66757324	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1805917	chr7:66742559-66758574	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv970519	chr7:66742783-66756319	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv970872	chr7:66742783-66776118	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	esv1823138	chr7:66743740-66764633	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1846171	chr7:66743740-66764633	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1847491	chr7:66743740-66764633	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1822204	chr7:66743740-66765298	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66694800-66766600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:66701600-66766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:66717400-66766200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:66717400-66766400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:66717600-66756200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:66717800-66766400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:66719000-66766400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:66719800-66766200	Weak transcription	Spleen	Spleen
9	chr7:66721800-66756000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:66723800-66766400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:66725800-66766200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:66725800-66766400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:66727600-66766200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:66728600-66766600	Weak transcription	Brain Angular Gyrus	brain
15	chr7:66729000-66767000	Weak transcription	Gastric	stomach
16	chr7:66733200-66766600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:66733400-66766800	Weak transcription	Lung	lung
18	chr7:66736400-66766600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:66742200-66766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:66742400-66766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:66742600-66766800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:66747600-66766600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:66748200-66766800	Weak transcription	Ovary	ovary
24	chr7:66748400-66766400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:66749000-66764800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:66749600-66766400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:66749600-66766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:66749600-66766600	Weak transcription	Brain Anterior Caudate	brain
29	chr7:66749600-66766600	Weak transcription	Fetal Intestine Large	intestine
30	chr7:66750200-66752600	Strong transcription	Fetal Stomach	stomach
31	chr7:66750200-66753000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:66750200-66753400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:66750200-66753800	Weak transcription	Liver	Liver
34	chr7:66750200-66756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:66750400-66751000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:66750400-66765600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:66750800-66754400	Weak transcription	Colonic Mucosa	Colon

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