Variant report

Variant	rs38316
Chromosome Location	chr7:70061363-70061364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17492269	0.86[ASN][1000 genomes]
rs38303	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38315	0.83[ASN][1000 genomes]
rs38317	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38318	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38319	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38320	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38321	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38322	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38323	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38324	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38326	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70060000-70061400	Enhancers	Spleen	Spleen
2	chr7:70060200-70062000	Bivalent Enhancer	Placenta	Placenta
3	chr7:70060200-70062600	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr7:70060400-70061400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr7:70060400-70061400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:70060400-70061400	Bivalent Enhancer	Fetal Thymus	thymus
7	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
8	chr7:70060600-70061400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:70060600-70061400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:70060600-70061400	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:70060600-70061600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:70060600-70061600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:70060600-70061600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:70060600-70061600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:70060600-70061600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:70060600-70061600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:70060600-70061800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:70060600-70061800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:70060600-70061800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70060600-70061800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:70060600-70061800	Bivalent Enhancer	Fetal Lung	lung
22	chr7:70060600-70061800	Bivalent/Poised TSS	NH-A	brain
23	chr7:70060600-70062000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr7:70060600-70062200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:70060600-70062400	Bivalent Enhancer	Fetal Brain Male	brain
26	chr7:70060600-70062400	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:70060800-70061400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:70060800-70061400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:70060800-70061400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr7:70060800-70061400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:70060800-70061400	Flanking Active TSS	Ovary	ovary
32	chr7:70060800-70061400	Bivalent/Poised TSS	HSMM	muscle
33	chr7:70060800-70061400	Bivalent/Poised TSS	HSMMtube	muscle
34	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:70060800-70061600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:70060800-70061600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:70060800-70061600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:70060800-70061600	Active TSS	Brain Angular Gyrus	brain
40	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr7:70060800-70061600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr7:70060800-70061600	Active TSS	Right Atrium	heart
43	chr7:70060800-70061600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr7:70060800-70061600	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:70060800-70061800	Active TSS	Aorta	Aorta
48	chr7:70060800-70061800	Active TSS	Brain Hippocampus Middle	brain
49	chr7:70060800-70061800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:70060800-70061800	Active TSS	Gastric	stomach

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