Variant report

Variant	rs9934251
Chromosome Location	chr16:75266607-75266608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75266448..75270263-chr16:75270931..75275548,5	MCF-7	breast:
2	chr16:75263871..75266298-chr16:75266366..75267894,2	K562	blood:
3	chr16:75265202..75266707-chr16:75338501..75340604,2	MCF-7	breast:
4	chr16:75262796..75265611-chr16:75265904..75267442,2	MCF-7	breast:
5	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
6	chr16:75265485..75267197-chr16:75295049..75296582,2	K562	blood:
7	chr16:75266181..75268162-chr16:75280238..75282418,2	K562	blood:
8	chr16:75266558..75268435-chr16:75272216..75274328,2	K562	blood:
9	chr16:75260323..75263123-chr16:75264222..75267022,3	K562	blood:
10	chr16:75265697..75267828-chr16:75295082..75297407,2	K562	blood:
11	chr16:75259171..75262723-chr16:75263223..75268032,5	MCF-7	breast:
12	chr16:75265003..75270372-chr16:75282943..75286802,5	K562	blood:
13	chr16:75244083..75246522-chr16:75263997..75266825,2	MCF-7	breast:
14	chr16:75259599..75261544-chr16:75263829..75267105,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240338	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000153774	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10221003	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335245	0.82[EUR][1000 genomes]
rs55824876	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58383536	0.92[EUR][1000 genomes]
rs9319482	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9934251	CFDP1	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75254000-75267600	Weak transcription	Fetal Brain Male	brain
2	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
3	chr16:75256600-75267600	Weak transcription	Fetal Heart	heart
4	chr16:75256600-75267600	Weak transcription	Right Atrium	heart
5	chr16:75259400-75267400	Weak transcription	Psoas Muscle	Psoas
6	chr16:75260000-75267800	Weak transcription	Stomach Mucosa	stomach
7	chr16:75260800-75267600	Strong transcription	Fetal Intestine Small	intestine
8	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
9	chr16:75261000-75267000	Strong transcription	Fetal Stomach	stomach
10	chr16:75261000-75267200	Strong transcription	NHLF	lung
11	chr16:75261000-75267600	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr16:75261000-75267600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:75261000-75268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:75261000-75268000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:75261200-75268000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr16:75261400-75267600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:75261400-75267800	Strong transcription	NHDF-Ad	bronchial
18	chr16:75261400-75268000	Strong transcription	Esophagus	oesophagus
19	chr16:75261400-75268000	Strong transcription	Gastric	stomach
20	chr16:75261400-75268000	Strong transcription	HUVEC	blood vessel
21	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:75261600-75267400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:75261600-75267600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:75261600-75267600	Strong transcription	Adipose Nuclei	Adipose
26	chr16:75261600-75268000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:75261600-75268000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:75261600-75268000	Strong transcription	NHEK	skin
29	chr16:75261800-75267200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:75261800-75267400	Strong transcription	Brain Anterior Caudate	brain
31	chr16:75261800-75267600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:75261800-75267600	Strong transcription	Colonic Mucosa	Colon
33	chr16:75261800-75267600	Strong transcription	Fetal Intestine Large	intestine
34	chr16:75261800-75267800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:75261800-75268000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:75261800-75268000	Strong transcription	HepG2	liver
37	chr16:75261800-75268000	Weak transcription	K562	blood
38	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:75262000-75267200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr16:75262000-75267400	Strong transcription	Liver	Liver
41	chr16:75262000-75267600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:75262000-75268000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:75262000-75268000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr16:75262000-75270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:75262400-75267800	Strong transcription	NH-A	brain
48	chr16:75262600-75267600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:75262800-75267400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links