Variant report

Variant	rs35343813
Chromosome Location	chr2:152804175-152804176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152803348..152805157-chr2:152810668..152812299,2	K562	blood:
2	chr2:152683277..152685736-chr2:152803172..152805723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10208254	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1105617	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12465422	0.92[CHB][hapmap]
rs12470410	0.92[CHB][hapmap]
rs12471646	1.00[ASW][hapmap];0.88[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12472173	0.86[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12479128	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12992504	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13011110	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13394161	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs1401780	0.82[JPT][hapmap]
rs1519708	0.92[CHB][hapmap]
rs1519712	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1519713	0.84[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1543197	0.85[EUR][1000 genomes]
rs17270332	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17326047	0.83[MEX][hapmap]
rs2001435	0.82[EUR][1000 genomes]
rs2461835	0.82[JPT][hapmap]
rs36052741	0.80[AMR][1000 genomes]
rs3892133	0.83[EUR][1000 genomes]
rs4524119	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4664067	0.82[JPT][hapmap]
rs4664508	1.00[JPT][hapmap]
rs4664514	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4664523	0.92[CHB][hapmap]
rs6433727	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433733	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433754	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6708698	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6718430	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6719674	0.92[CHB][hapmap]
rs6720927	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6727569	0.92[CHB][hapmap];0.82[CHD][hapmap];0.83[MEX][hapmap]
rs6727592	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729612	0.84[ASW][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6729655	0.86[CHD][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes]
rs6734642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736449	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs6745978	0.92[CHB][hapmap]
rs6751763	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6755890	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6756595	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7349251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558481	0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7564060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564177	0.82[CHB][hapmap];0.86[CHD][hapmap];0.80[MEX][hapmap]
rs7565405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571637	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7582231	0.83[MEX][hapmap]
rs7584868	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7602165	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607621	0.84[EUR][1000 genomes]
rs952340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956745	0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35343813	FMNL2	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152799600-152804800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:152799800-152804200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:152799800-152804800	Enhancers	HMEC	breast
4	chr2:152801200-152805000	Enhancers	Placenta	Placenta
5	chr2:152801800-152804600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:152801800-152805000	Enhancers	NHEK	skin
7	chr2:152802000-152809800	Weak transcription	HepG2	liver
8	chr2:152802800-152804400	Enhancers	Fetal Brain Male	brain
9	chr2:152802800-152805000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:152802800-152805000	Enhancers	Fetal Thymus	thymus
11	chr2:152803000-152805400	Enhancers	Brain Substantia Nigra	brain
12	chr2:152803400-152804400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:152803600-152804200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:152803600-152804200	Enhancers	Primary B cells from cord blood	blood
15	chr2:152803600-152804200	Active TSS	Primary hematopoietic stem cells	blood
16	chr2:152803600-152804200	Enhancers	Colonic Mucosa	Colon
17	chr2:152803600-152804200	Active TSS	Stomach Smooth Muscle	stomach
18	chr2:152803600-152804400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:152803600-152804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:152803600-152804400	Enhancers	Pancreas	Pancrea
21	chr2:152803600-152804400	Enhancers	Psoas Muscle	Psoas
22	chr2:152803600-152804600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:152803600-152804600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:152803600-152804600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:152803600-152804600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:152803600-152804600	Enhancers	Lung	lung
27	chr2:152803600-152804600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:152803600-152804600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:152803600-152804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:152803600-152804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:152803600-152804800	Weak transcription	Fetal Brain Female	brain
32	chr2:152803600-152805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:152803800-152804200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:152803800-152804200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:152803800-152804200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:152803800-152804200	Enhancers	Brain Germinal Matrix	brain
37	chr2:152803800-152804200	Flanking Active TSS	Fetal Kidney	kidney
38	chr2:152803800-152804200	Active TSS	Left Ventricle	heart
39	chr2:152803800-152804200	Enhancers	Stomach Mucosa	stomach
40	chr2:152803800-152804400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:152803800-152804400	Active TSS	Brain Hippocampus Middle	brain
42	chr2:152803800-152804400	Active TSS	Duodenum Mucosa	Duodenum
43	chr2:152803800-152804400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr2:152803800-152804400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:152803800-152804400	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:152803800-152804400	Flanking Active TSS	Right Atrium	heart
47	chr2:152803800-152804600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr2:152803800-152804800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:152803800-152805000	Enhancers	Fetal Lung	lung
50	chr2:152804000-152804200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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