Variant report

Variant	rs3755197
Chromosome Location	chr2:36757349-36757350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36753244..36754904-chr2:36755959..36758615,2	K562	blood:
2	chr2:36755319..36758210-chr2:36763751..36765429,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10184223	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10189344	0.82[MEX][hapmap]
rs11681392	0.83[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11694761	0.83[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs1523785	0.88[CEU][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2287082	0.83[CEU][hapmap];0.82[GIH][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs2293254	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs3770820	0.80[ASN][1000 genomes]
rs3770821	0.85[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs3770822	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770832	0.88[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs3770833	0.88[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs3815552	0.85[EUR][1000 genomes]
rs6721081	0.83[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3755197	FEZ2	cis	cerebellum	SCAN
rs3755197	FEZ2	cis	multi-tissue	Pritchard
rs3755197	FAM82A1	cis	cerebellum	SCAN
rs3755197	SULT6B1	cis	parietal	SCAN
rs3755197	CDC42EP3	cis	parietal	SCAN
rs3755197	STRN	cis	cerebellum	SCAN
rs3755197	CRIM1	cis	cerebellum	SCAN
rs3755197	FEZ2	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
4	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
5	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
6	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:36739400-36757400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:36745000-36757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
11	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
12	chr2:36747800-36774200	Weak transcription	Liver	Liver
13	chr2:36748000-36757400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:36748000-36757400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:36748200-36757400	Weak transcription	Fetal Heart	heart
18	chr2:36749200-36758000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
21	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
22	chr2:36749800-36764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:36749800-36764200	Weak transcription	Spleen	Spleen
24	chr2:36750000-36765200	Weak transcription	Gastric	stomach
25	chr2:36750800-36759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:36750800-36763200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:36750800-36764400	Weak transcription	Esophagus	oesophagus
28	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:36751000-36758000	Weak transcription	Aorta	Aorta
30	chr2:36751000-36759000	Weak transcription	Fetal Kidney	kidney
31	chr2:36751000-36759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:36751000-36761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:36751000-36764200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:36751200-36757400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:36751200-36758000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
38	chr2:36751400-36763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:36751400-36764200	Weak transcription	Fetal Brain Female	brain
40	chr2:36751400-36764200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:36751600-36759000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:36751600-36759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:36751600-36764400	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:36751600-36764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:36751800-36759000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:36752400-36759400	Genic enhancers	Osteobl	bone
48	chr2:36752600-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:36752800-36760600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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