Variant report

Variant	rs62468404
Chromosome Location	chr7:66593927-66593928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13225388	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv966838	chr7:66548076-66617503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1802655	chr7:66576034-66634666	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv1816643	chr7:66576034-66634666	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	esv1840497	chr7:66576034-66634666	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	esv1851064	chr7:66576034-66634666	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62468404	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs62468404	STAG3L4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66495200-66597200	Weak transcription	Right Ventricle	heart
2	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:66543400-66600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:66547000-66594200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:66547600-66594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:66547600-66594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:66547800-66602800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:66554600-66595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:66564800-66594400	Weak transcription	NH-A	brain
15	chr7:66566400-66605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:66566800-66594000	Weak transcription	Lung	lung
17	chr7:66568800-66594200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:66570600-66595800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:66570800-66595400	Weak transcription	Ovary	ovary
20	chr7:66575800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:66576000-66600600	Weak transcription	Fetal Lung	lung
22	chr7:66576600-66616600	Weak transcription	Fetal Stomach	stomach
23	chr7:66584200-66594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:66584200-66606600	Weak transcription	HSMMtube	muscle
25	chr7:66584400-66595600	Weak transcription	Placenta	Placenta
26	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:66585000-66595600	Weak transcription	Adipose Nuclei	Adipose
28	chr7:66585000-66622400	Weak transcription	HSMM	muscle
29	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:66585800-66594000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66586000-66594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:66586400-66594000	Weak transcription	Left Ventricle	heart
34	chr7:66589000-66605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:66591400-66596000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:66591400-66620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:66591600-66594400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:66591800-66594800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:66592400-66596000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:66592600-66595000	Enhancers	Primary T cells from cord blood	blood
42	chr7:66592600-66596000	Enhancers	HepG2	liver
43	chr7:66592800-66594000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr7:66592800-66594200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:66592800-66594800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:66592800-66595000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:66592800-66595000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:66592800-66595800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:66593000-66594600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:66593000-66596000	Enhancers	Primary B cells from peripheral blood	blood

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