Variant report

Variant	rs577192
Chromosome Location	chr2:169709104-169709105
allele	C/T
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	JUN	chr2:169707367-169709802	K562	blood:	n/a	chr2:169709702-169709714 chr2:169709661-169709669 chr2:169709239-169709248
2	POLR2A	chr2:169701379-169710346	K562	blood:	n/a	n/a
3	CHD2	chr2:169709101-169709301	K562	blood:	n/a	n/a
4	JUND	chr2:169708171-169709250	K562	blood:	n/a	chr2:169709239-169709248
5	TBL1XR1	chr2:169708219-169709266	K562	blood:	n/a	n/a
6	CREB1	chr2:169708017-169709384	K562	blood:	n/a	n/a
7	NFYB	chr2:169709035-169709421	K562	blood:	n/a	chr2:169709240-169709250
8	NR2F2	chr2:169707930-169709349	K562	blood:	n/a	n/a
9	NR2F2	chr2:169708143-169709294	K562	blood:	n/a	n/a
10	IRF1	chr2:169708149-169709236	K562	blood:	n/a	n/a
11	CUX1	chr2:169707957-169709438	K562	blood:	n/a	chr2:169708196-169708207
12	TEAD4	chr2:169707975-169709241	K562	blood:	n/a	n/a
13	STAT5A	chr2:169707996-169709211	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:169629254..169632077-chr2:169708619..169710261,2	K562	blood:
2	chr2:169708518..169710215-chr2:169719291..169720993,2	K562	blood:
3	chr2:169708194..169710093-chr2:169710266..169712297,2	K562	blood:

Variant related genes	Relation type
NOSTRIN	TF binding region
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2461385	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2685800	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2685801	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs475467	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs477309	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs479661	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs494859	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs498041	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs499160	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs504393	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs509988	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs511778	0.96[EUR][1000 genomes]
rs525428	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs533492	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs534771	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs539400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs560494	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs576338	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs580507	1.00[EUR][1000 genomes]
rs581363	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs577192	DYNC1I2	cis	cerebellum	SCAN
rs577192	COBLL1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:169683400-169717600	Weak transcription	Ovary	ovary
3	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
6	chr2:169693600-169711200	Weak transcription	Lung	lung
7	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
8	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
9	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
10	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:169703200-169713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:169703600-169714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
17	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:169704800-169709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
22	chr2:169705200-169711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
24	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:169706200-169717600	Weak transcription	Pancreas	Pancrea
26	chr2:169706400-169711200	Weak transcription	NH-A	brain
27	chr2:169706400-169713000	Weak transcription	Psoas Muscle	Psoas
28	chr2:169706600-169713200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:169706600-169721600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:169706800-169711600	Strong transcription	Fetal Thymus	thymus
32	chr2:169706800-169713400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:169706800-169718400	Weak transcription	Liver	Liver
34	chr2:169707000-169709600	Weak transcription	HepG2	liver
35	chr2:169707000-169711600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:169707000-169721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:169707200-169712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:169707200-169714800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:169707400-169710200	Strong transcription	Adipose Nuclei	Adipose
40	chr2:169707400-169713400	Strong transcription	Dnd41	blood
41	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:169707600-169709400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:169708000-169709200	Enhancers	NHEK	skin
44	chr2:169708200-169709200	Enhancers	HUVEC	blood vessel
45	chr2:169708200-169709200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:169708200-169709400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:169708200-169711400	Strong transcription	Fetal Intestine Small	intestine
48	chr2:169708400-169709400	Strong transcription	Colonic Mucosa	Colon
49	chr2:169708400-169710000	Strong transcription	Placenta	Placenta
50	chr2:169708600-169712800	Weak transcription	Fetal Stomach	stomach

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