Variant report

Variant	rs894072
Chromosome Location	chr2:191272150-191272151
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	PML	chr2:191272148-191273885	GM12878	blood:	n/a	n/a
2	MXI1	chr2:191271838-191274774	SK-N-SH	brain:	n/a	n/a
3	EP300	chr2:191272142-191272162	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:191272048-191274022	H1-neurons	neurons:	n/a	n/a
5	MTA3	chr2:191271884-191274182	GM12878	blood:	n/a	n/a
6	SIN3A	chr2:191272069-191274071	H1-hESC	embryonic stem cell:	n/a	chr2:191273595-191273608 chr2:191273560-191273573 chr2:191273592-191273600 chr2:191273201-191273212 chr2:191272886-191272895
7	MTA3	chr2:191271952-191272796	GM12878	blood:	n/a	n/a
8	STAT5A	chr2:191272009-191272703	GM12878	blood:	n/a	n/a
9	HCFC1	chr2:191272147-191272331	K562	blood:	n/a	n/a
10	SP1	chr2:191272003-191272413	H1-hESC	embryonic stem cell:	n/a	n/a
11	RUNX3	chr2:191272106-191272952	GM12878	blood:	n/a	n/a
12	NFIC	chr2:191272129-191272653	GM12878	blood:	n/a	n/a
13	MAZ	chr2:191272142-191273853	K562	blood:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
14	POLR2A	chr2:191272017-191274003	H1-neurons	neurons:	n/a	n/a
15	REST	chr2:191272116-191274221	H1-neurons	neurons:	n/a	chr2:191272509-191272519 chr2:191273563-191273576 chr2:191273171-191273184 chr2:191272886-191272896 chr2:191272815-191272825 chr2:191273190-191273208
16	RCOR1	chr2:191272129-191272734	K562	blood:	n/a	n/a
17	BCLAF1	chr2:191272093-191273052	GM12878	blood:	n/a	chr2:191272794-191272807 chr2:191272840-191272853 chr2:191272839-191272848 chr2:191272842-191272851
18	RUNX3	chr2:191272087-191273048	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:
2	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:
3	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
4	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region
ENSG00000151690	Chromatin interaction
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10169169	0.86[ASN][1000 genomes]
rs10171376	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10173975	0.86[ASN][1000 genomes]
rs10179262	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10185147	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10189140	0.86[ASN][1000 genomes]
rs10202274	0.87[ASN][1000 genomes]
rs10204342	0.86[ASN][1000 genomes]
rs10208737	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs10209340	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10211375	0.86[ASN][1000 genomes]
rs10737936	0.82[CHB][hapmap]
rs11553601	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs11695439	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13031452	0.86[ASN][1000 genomes]
rs13384743	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13386210	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs13388162	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13395233	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs13398741	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13405215	0.88[ASN][1000 genomes]
rs13410179	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[ASN][1000 genomes]
rs13412663	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13412823	0.85[ASN][1000 genomes]
rs13412835	0.85[ASN][1000 genomes]
rs13417310	0.86[ASN][1000 genomes]
rs13418943	0.88[ASN][1000 genomes]
rs13429315	0.88[ASN][1000 genomes]
rs1837686	0.99[ASN][1000 genomes]
rs3811608	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4283453	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes]
rs4853712	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs56715527	0.97[ASN][1000 genomes]
rs58210597	0.88[ASN][1000 genomes]
rs58253207	0.88[ASN][1000 genomes]
rs58433478	0.94[ASN][1000 genomes]
rs58708643	0.99[ASN][1000 genomes]
rs6434401	0.82[CHB][hapmap]
rs6717050	0.84[ASN][1000 genomes]
rs72903349	0.96[ASN][1000 genomes]
rs72903383	1.00[ASN][1000 genomes]
rs72905242	0.94[ASN][1000 genomes]
rs73054092	0.86[ASN][1000 genomes]
rs7556716	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7560045	0.86[ASN][1000 genomes]
rs7562013	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs7564107	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs7574844	0.86[ASN][1000 genomes]
rs7584379	0.86[ASN][1000 genomes]
rs7594994	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs7609330	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8962	1.00[CHB][hapmap]
rs9288174	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs9967829	0.82[CHB][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs894072	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs894072	ASNSD1	cis	parietal	SCAN
rs894072	TMEM194B	cis	cerebellum	SCAN
rs894072	MFSD6	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191269400-191272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:191269600-191272200	Weak transcription	A549	lung
3	chr2:191269800-191272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:191269800-191272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:191269800-191272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:191270000-191272200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:191270000-191272200	Weak transcription	Placenta	Placenta
8	chr2:191270000-191272200	Weak transcription	NHEK	skin
9	chr2:191270200-191272200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:191270200-191272200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:191270200-191272400	Weak transcription	Hela-S3	cervix
12	chr2:191271400-191272200	Enhancers	K562	blood
13	chr2:191271600-191272200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:191271600-191272400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:191271600-191272600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:191271800-191272200	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:191271800-191272200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr2:191271800-191272200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:191271800-191272200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:191271800-191272400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:191271800-191272400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:191271800-191272400	Bivalent Enhancer	HepG2	liver
23	chr2:191271800-191272800	Flanking Active TSS	Dnd41	blood
24	chr2:191271800-191273800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:191272000-191272200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr2:191272000-191272200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:191272000-191272200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr2:191272000-191272200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:191272000-191272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:191272000-191272200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:191272000-191272200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr2:191272000-191272200	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr2:191272000-191272200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:191272000-191272200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:191272000-191272200	Enhancers	Adipose Nuclei	Adipose
37	chr2:191272000-191272200	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:191272000-191272200	Active TSS	Brain Germinal Matrix	brain
39	chr2:191272000-191272200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:191272000-191272200	Active TSS	Fetal Brain Male	brain
41	chr2:191272000-191272200	Active TSS	Fetal Brain Female	brain
42	chr2:191272000-191272200	Enhancers	Fetal Kidney	kidney
43	chr2:191272000-191272200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr2:191272000-191272200	Bivalent Enhancer	Fetal Lung	lung
45	chr2:191272000-191272200	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:191272000-191272200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:191272000-191272200	Enhancers	Stomach Mucosa	stomach
48	chr2:191272000-191272200	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:191272000-191272200	Enhancers	GM12878-XiMat	blood
50	chr2:191272000-191272200	Bivalent/Poised TSS	NHDF-Ad	bronchial

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