Variant report

Variant	rs2096219
Chromosome Location	chr10:97635516-97635517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1340837	0.88[ASN][1000 genomes]
rs4075311	0.97[ASN][1000 genomes]
rs4918974	0.80[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2096219	TCTN3	Cis_1M	lymphoblastoid	RTeQTL
rs2096219	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs2096219	ENTPD1	cis	multi-tissue	Pritchard
rs2096219	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97601600-97635600	Weak transcription	Fetal Brain Male	brain
2	chr10:97601800-97647800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:97602400-97655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:97619600-97655000	Weak transcription	HUVEC	blood vessel
5	chr10:97621000-97640600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:97621000-97666800	Weak transcription	Gastric	stomach
7	chr10:97622800-97666600	Weak transcription	Thymus	Thymus
8	chr10:97623800-97666600	Weak transcription	Right Ventricle	heart
9	chr10:97625200-97635800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:97625200-97636800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:97625200-97655200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:97625400-97648600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:97625400-97649200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:97625400-97666400	Weak transcription	Osteobl	bone
15	chr10:97626000-97637000	Weak transcription	HSMMtube	muscle
16	chr10:97626200-97638000	Weak transcription	Fetal Kidney	kidney
17	chr10:97626400-97666400	Weak transcription	Pancreas	Pancrea
18	chr10:97626800-97639600	Weak transcription	HepG2	liver
19	chr10:97626800-97654200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:97628000-97635600	Weak transcription	HMEC	breast
21	chr10:97628000-97666800	Weak transcription	Esophagus	oesophagus
22	chr10:97628200-97647800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:97628200-97655600	Weak transcription	Brain Anterior Caudate	brain
24	chr10:97628400-97636000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:97628400-97657600	Weak transcription	Hela-S3	cervix
26	chr10:97629200-97647800	Weak transcription	NHEK	skin
27	chr10:97629200-97655200	Weak transcription	NH-A	brain
28	chr10:97629200-97663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:97630000-97636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:97630400-97636800	Strong transcription	Primary T cells from cord blood	blood
31	chr10:97631000-97635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:97631200-97639200	Weak transcription	Dnd41	blood
33	chr10:97631200-97663000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr10:97631400-97636600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:97631800-97635600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr10:97631800-97636400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:97631800-97636600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:97631800-97636600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:97631800-97636800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:97632200-97660400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:97632200-97667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:97632400-97636400	Strong transcription	Liver	Liver
43	chr10:97633000-97636800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:97633200-97655600	Weak transcription	Psoas Muscle	Psoas
45	chr10:97633200-97655800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr10:97633400-97648000	Weak transcription	Aorta	Aorta
47	chr10:97633400-97655200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:97633400-97655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:97633400-97656000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:97633400-97659800	Weak transcription	Colon Smooth Muscle	Colon

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