Variant report

Variant	rs4788696
Chromosome Location	chr16:73070310-73070311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:73029969..73032717-chr16:73066881..73070752,3	MCF-7	breast:
2	chr16:73052543..73056273-chr16:73069076..73072380,4	MCF-7	breast:
3	chr16:73067802..73070400-chr16:73071930..73073928,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11075960	0.89[EUR][1000 genomes]
rs11075961	0.89[EUR][1000 genomes]
rs16971464	0.82[GIH][hapmap]
rs8062492	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4788696	FTSJD1	cis	parietal	SCAN
rs4788696	NRN1L	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
2	chr16:73059000-73072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:73059400-73076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:73060600-73072600	Enhancers	Fetal Lung	lung
5	chr16:73062400-73071800	Weak transcription	Spleen	Spleen
6	chr16:73063200-73073800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:73064600-73074400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr16:73065200-73072400	Enhancers	Fetal Muscle Leg	muscle
9	chr16:73065200-73072600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr16:73065200-73074000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:73067000-73070600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:73067000-73079200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:73067200-73071800	Weak transcription	Liver	Liver
14	chr16:73067200-73078400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:73067800-73070600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr16:73067800-73070800	Enhancers	Brain Substantia Nigra	brain
17	chr16:73067800-73081400	Weak transcription	Small Intestine	intestine
18	chr16:73068000-73077400	Weak transcription	NHDF-Ad	bronchial
19	chr16:73068200-73071000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr16:73068400-73070400	Genic enhancers	HepG2	liver
21	chr16:73068400-73071200	Weak transcription	A549	lung
22	chr16:73068400-73078000	Weak transcription	Hela-S3	cervix
23	chr16:73068800-73074200	Weak transcription	Adipose Nuclei	Adipose
24	chr16:73069000-73070800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:73069000-73071200	Weak transcription	Gastric	stomach
26	chr16:73069000-73071200	Weak transcription	Pancreas	Pancrea
27	chr16:73069400-73072200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr16:73069400-73072400	Enhancers	Fetal Muscle Trunk	muscle
29	chr16:73069400-73076800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:73069600-73070600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:73069600-73070600	Enhancers	Left Ventricle	heart
32	chr16:73069600-73070800	Enhancers	Brain Germinal Matrix	brain
33	chr16:73069600-73072200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:73069600-73072400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:73069600-73072400	Enhancers	Fetal Intestine Small	intestine
36	chr16:73069600-73072400	Enhancers	Fetal Stomach	stomach
37	chr16:73069600-73072600	Enhancers	Fetal Intestine Large	intestine
38	chr16:73069800-73070400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr16:73069800-73070400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr16:73069800-73070400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr16:73069800-73070400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr16:73069800-73070800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:73069800-73071000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:73069800-73071000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr16:73069800-73071200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr16:73069800-73071400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:73069800-73071400	Enhancers	Duodenum Mucosa	Duodenum
48	chr16:73069800-73071600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr16:73069800-73071600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr16:73069800-73072000	Flanking Active TSS	GM12878-XiMat	blood

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