Variant report

Variant	rs16839699
Chromosome Location	chr4:7157705-7157706
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7151546..7154999-chr4:7157110..7159286,3	K562	blood:
2	chr4:7155562..7157749-chr4:7159124..7161784,3	K562	blood:
3	chr4:7154359..7156507-chr4:7156687..7158772,2	MCF-7	breast:
4	chr4:7156869..7158917-chr4:7168840..7170668,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11932499	0.85[EUR][1000 genomes]
rs12507403	0.82[EUR][1000 genomes]
rs12511333	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6816089	0.82[EUR][1000 genomes]
rs6846459	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9291130	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878538	chr4:7102597-7158467	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv878539	chr4:7121880-7163405	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv461192	chr4:7153642-7197393	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv593559	chr4:7153642-7197393	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv461193	chr4:7154743-7197393	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv593560	chr4:7154743-7197393	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv461194	chr4:7154743-7219933	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv593561	chr4:7154743-7219933	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16839699	SORCS2	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7150400-7158800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:7155600-7158000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7156400-7159400	Enhancers	Fetal Stomach	stomach
5	chr4:7156400-7159800	Enhancers	Fetal Muscle Leg	muscle
6	chr4:7156600-7158200	Enhancers	NHEK	skin
7	chr4:7156600-7159800	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:7156800-7159200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:7157000-7158000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:7157000-7158000	Enhancers	HMEC	breast
11	chr4:7157000-7158200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:7157000-7158600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7157000-7158600	Enhancers	K562	blood
14	chr4:7157000-7159000	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:7157000-7159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:7157000-7159800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:7157200-7157800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:7157200-7158000	Weak transcription	Fetal Lung	lung
19	chr4:7157200-7158000	Enhancers	Fetal Thymus	thymus
20	chr4:7157200-7158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:7157200-7158200	Weak transcription	Fetal Kidney	kidney
22	chr4:7157200-7158400	Enhancers	Esophagus	oesophagus
23	chr4:7157200-7158400	Enhancers	Fetal Intestine Large	intestine
24	chr4:7157200-7158400	Enhancers	Fetal Intestine Small	intestine
25	chr4:7157200-7158400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:7157200-7158400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:7157200-7158400	Enhancers	HUVEC	blood vessel
28	chr4:7157200-7158800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7157200-7159200	Enhancers	Ovary	ovary
30	chr4:7157200-7159400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:7157400-7157800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:7157400-7157800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:7157400-7157800	Enhancers	NH-A	brain
34	chr4:7157400-7158200	Bivalent Enhancer	HepG2	liver
35	chr4:7157400-7159000	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:7157600-7157800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:7157600-7157800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:7157600-7157800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr4:7157600-7157800	Enhancers	Spleen	Spleen
40	chr4:7157600-7158000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:7157600-7158000	Bivalent Enhancer	Placenta	Placenta
42	chr4:7157600-7158000	Enhancers	Stomach Mucosa	stomach
43	chr4:7157600-7158400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:7157600-7158400	Enhancers	Lung	lung
45	chr4:7157600-7158600	Enhancers	Right Ventricle	heart
46	chr4:7157600-7158800	Enhancers	Colonic Mucosa	Colon
47	chr4:7157600-7158800	Enhancers	Left Ventricle	heart

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