Variant report

Variant	rs7788819
Chromosome Location	chr7:38226658-38226659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38219568..38221988-chr7:38224913..38228070,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1019180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10233340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282407	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10480164	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951552	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531618	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860522	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159501	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35997004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723738	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55864286	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6462817	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6462818	0.87[AFR][1000 genomes]
rs6975531	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784752	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795499	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription 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	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7788819	STARD3NL	cis	Thyroid	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
6	chr7:38219800-38227800	Weak transcription	Lung	lung
7	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:38220200-38227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:38220200-38227800	Weak transcription	Brain Substantia Nigra	brain
10	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
12	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
13	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
14	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:38220400-38227400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:38220400-38228000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:38220400-38228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:38220400-38230000	Weak transcription	Fetal Lung	lung
19	chr7:38220400-38232400	Weak transcription	Fetal Brain Male	brain
20	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:38220800-38228000	Weak transcription	Fetal Brain Female	brain
22	chr7:38220800-38231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:38221000-38236400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:38221000-38246800	Weak transcription	Primary T cells from cord blood	blood
25	chr7:38221400-38228000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:38222400-38227400	Weak transcription	Dnd41	blood
27	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:38224000-38231400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:38224200-38235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:38224200-38235800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:38224200-38235800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:38224600-38227000	Enhancers	HSMM	muscle
33	chr7:38224600-38227000	Enhancers	NH-A	brain
34	chr7:38224600-38227200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:38224600-38227600	Enhancers	HSMMtube	muscle
36	chr7:38224600-38227600	Enhancers	Osteobl	bone
37	chr7:38224800-38227000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:38224800-38228000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:38224800-38229800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:38224800-38230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:38225000-38226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:38225000-38227000	Enhancers	Psoas Muscle	Psoas
43	chr7:38225000-38227000	Enhancers	HUVEC	blood vessel
44	chr7:38225000-38229200	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:38225000-38229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:38225000-38229600	Enhancers	Primary B cells from cord blood	blood
47	chr7:38225000-38247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:38225200-38227000	Enhancers	NHDF-Ad	bronchial
49	chr7:38225200-38227400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:38225200-38227800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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