Variant report

Variant	rs17391612
Chromosome Location	chr1:94478847-94478848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:94478144-94479328	H1-hESC	embryonic stem cell:	n/a	chr1:94478426-94478435 chr1:94478426-94478435 chr1:94479090-94479099 chr1:94478427-94478434 chr1:94478234-94478244 chr1:94479090-94479099 chr1:94479091-94479098 chr1:94479089-94479099 chr1:94479089-94479099
2	GATA1	chr1:94478033-94479283	PBDE	blood:	n/a	chr1:94478810-94478831 chr1:94478813-94478829 chr1:94478257-94478266 chr1:94478817-94478826 chr1:94478813-94478829
3	E2F6	chr1:94477037-94479451	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr1:94478070-94479282	K562	blood:	n/a	chr1:94478426-94478435 chr1:94478426-94478435 chr1:94479090-94479099 chr1:94478427-94478434 chr1:94478234-94478244 chr1:94479090-94479099 chr1:94479091-94479098 chr1:94479089-94479099 chr1:94479089-94479099
5	RCOR1	chr1:94478673-94479144	K562	blood:	n/a	n/a
6	BHLHE40	chr1:94478242-94479148	K562	blood:	n/a	chr1:94478467-94478483
7	JUND	chr1:94478788-94479123	K562	blood:	n/a	n/a
8	TEAD4	chr1:94478587-94478991	K562	blood:	n/a	n/a
9	TAL1	chr1:94478713-94478965	K562	blood:	n/a	chr1:94478751-94478760 chr1:94478748-94478763

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94478608..94480498-chr1:94484594..94486437,2	MCF-7	breast:

Variant related genes	Relation type
ABCA4	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10874828	0.90[JPT][hapmap]
rs10874829	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11165062	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165063	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110808	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2065712	0.86[CHD][hapmap]
rs2275029	0.81[CHD][hapmap]
rs2275031	0.81[CHD][hapmap]
rs3789391	0.82[JPT][hapmap]
rs4147857	0.81[CHD][hapmap]
rs4147859	0.97[ASN][1000 genomes]
rs4147861	0.97[ASN][1000 genomes]
rs4147862	0.81[CHD][hapmap]
rs4147863	0.81[CHD][hapmap]
rs4147866	0.86[ASN][1000 genomes]
rs55691342	0.85[ASN][1000 genomes]
rs55694362	0.97[ASN][1000 genomes]
rs56166161	0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17391612	C1orf146	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94475400-94485600	Weak transcription	NH-A	brain
3	chr1:94476400-94479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94476400-94479200	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:94476400-94479400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:94476400-94480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:94476600-94479400	Enhancers	Placenta	Placenta
8	chr1:94476600-94479600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:94476800-94479200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:94476800-94480400	Enhancers	Fetal Intestine Large	intestine
11	chr1:94477000-94479000	Enhancers	Right Atrium	heart
12	chr1:94477000-94479400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:94477000-94479800	Enhancers	Fetal Intestine Small	intestine
14	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:94477200-94479200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:94477200-94479200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:94477200-94480400	Weak transcription	HMEC	breast
18	chr1:94477400-94479800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr1:94477400-94480000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:94477400-94480200	Enhancers	Brain Germinal Matrix	brain
21	chr1:94477600-94479200	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:94477600-94479200	Enhancers	HepG2	liver
23	chr1:94477600-94479400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:94477600-94479400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr1:94477800-94479000	Weak transcription	HSMM	muscle
26	chr1:94477800-94479800	Weak transcription	Spleen	Spleen
27	chr1:94478000-94479600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr1:94478000-94479800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr1:94478200-94479000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:94478200-94479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:94478400-94479600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:94478400-94480000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr1:94478400-94480400	Weak transcription	Osteobl	bone
34	chr1:94478600-94479000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr1:94478600-94479000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr1:94478600-94479000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:94478600-94480000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:94478800-94479000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr1:94478800-94479400	Enhancers	Colonic Mucosa	Colon
40	chr1:94478800-94479400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:94478800-94479600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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