Variant report

Variant	rs10081219
Chromosome Location	chr7:65676481-65676482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10232498	1.00[EUR][1000 genomes]
rs10234562	1.00[EUR][1000 genomes]
rs10236404	1.00[EUR][1000 genomes]
rs10246941	1.00[EUR][1000 genomes]
rs10247708	1.00[EUR][1000 genomes]
rs10256705	1.00[EUR][1000 genomes]
rs10266831	1.00[EUR][1000 genomes]
rs10272408	1.00[EUR][1000 genomes]
rs11505274	1.00[EUR][1000 genomes]
rs11971942	1.00[EUR][1000 genomes]
rs11979489	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12112556	1.00[EUR][1000 genomes]
rs28447397	1.00[EUR][1000 genomes]
rs28566023	1.00[EUR][1000 genomes]
rs55983755	1.00[EUR][1000 genomes]
rs61593141	1.00[EUR][1000 genomes]
rs73699720	1.00[EUR][1000 genomes]
rs73699756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65671400-65677000	Weak transcription	Placenta	Placenta
2	chr7:65671400-65678800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:65671600-65685400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:65671600-65689000	Weak transcription	Pancreas	Pancrea
5	chr7:65671800-65677600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:65671800-65677600	Weak transcription	Spleen	Spleen
7	chr7:65671800-65682200	Weak transcription	Left Ventricle	heart
8	chr7:65672000-65677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:65672200-65677200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:65672200-65677400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:65672200-65677600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:65672200-65678000	Weak transcription	HSMM	muscle
13	chr7:65672200-65678800	Weak transcription	HUVEC	blood vessel
14	chr7:65672200-65687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
16	chr7:65672400-65677000	Weak transcription	Fetal Brain Male	brain
17	chr7:65672400-65678800	Weak transcription	NH-A	brain
18	chr7:65672600-65676600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:65672600-65687600	Weak transcription	Brain Germinal Matrix	brain
20	chr7:65673000-65689000	Weak transcription	HMEC	breast
21	chr7:65673200-65677200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:65673200-65677600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:65673400-65677200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:65673400-65677200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:65673400-65677600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:65673400-65677800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:65673400-65678000	Weak transcription	NHDF-Ad	bronchial
28	chr7:65673400-65678800	Weak transcription	NHEK	skin
29	chr7:65673400-65689000	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:65673600-65676800	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:65673600-65682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:65674000-65688800	Weak transcription	Ovary	ovary
33	chr7:65674200-65676600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:65675400-65677000	Weak transcription	Fetal Intestine Large	intestine
35	chr7:65675600-65678800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:65675600-65685400	Weak transcription	Esophagus	oesophagus
37	chr7:65675800-65676800	Weak transcription	Fetal Lung	lung
38	chr7:65675800-65678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:65675800-65678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:65675800-65679200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:65676000-65676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:65676000-65678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:65676000-65679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:65676000-65681000	Weak transcription	Liver	Liver
45	chr7:65676000-65684400	Weak transcription	HepG2	liver
46	chr7:65676000-65689000	Weak transcription	Lung	lung
47	chr7:65676000-65696200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
49	chr7:65676200-65676800	Enhancers	Stomach Mucosa	stomach
50	chr7:65676200-65677600	Enhancers	NHLF	lung

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