Variant report

Variant	rs4503787
Chromosome Location	chr16:81624839-81624840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81624368..81626630-chr16:81660607..81662818,2	MCF-7	breast:
2	chr16:81618056..81619938-chr16:81624471..81626536,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2317415	1.00[YRI][hapmap]

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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4503787	RIBC2	trans	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
2	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81616800-81640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:81617000-81634400	Weak transcription	Ovary	ovary
7	chr16:81617400-81626000	Weak transcription	Spleen	Spleen
8	chr16:81617400-81634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81617400-81634000	Weak transcription	Fetal Lung	lung
10	chr16:81617400-81648800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:81617600-81633400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:81617600-81634000	Weak transcription	HUVEC	blood vessel
13	chr16:81617800-81625000	Weak transcription	Left Ventricle	heart
14	chr16:81617800-81626200	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81618000-81625000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:81618000-81625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:81618000-81625200	Weak transcription	Colonic Mucosa	Colon
18	chr16:81618000-81627000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:81618000-81630200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:81618200-81634000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:81618400-81626800	Genic enhancers	A549	lung
22	chr16:81618400-81633000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:81618400-81633000	Weak transcription	NHDF-Ad	bronchial
24	chr16:81618600-81625200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:81618600-81626000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:81618600-81626800	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:81618800-81625000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:81619200-81630200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:81619600-81626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:81619800-81625200	Strong transcription	Primary T cells from cord blood	blood
31	chr16:81620000-81627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:81620000-81632800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:81620200-81632000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr16:81620200-81632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:81620800-81626600	Weak transcription	HMEC	breast
36	chr16:81621000-81625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:81621000-81633000	Weak transcription	Fetal Brain Female	brain
38	chr16:81621200-81625000	Weak transcription	Gastric	stomach
39	chr16:81621200-81625000	Strong transcription	HepG2	liver
40	chr16:81621200-81632000	Weak transcription	Hela-S3	cervix
41	chr16:81621200-81632600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:81621400-81625000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81621600-81625800	Weak transcription	Pancreas	Pancrea
44	chr16:81621600-81632800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:81621800-81625000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:81621800-81625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:81622200-81625800	Weak transcription	Liver	Liver
48	chr16:81622200-81632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:81622400-81625000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:81622400-81641400	Weak transcription	K562	blood

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