Variant report

Variant	rs7706007
Chromosome Location	chr5:37223041-37223042
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	chr5:37219759..37221366-chr5:37222603..37224859,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10056350	1.00[YRI][hapmap]
rs10491420	1.00[AMR][1000 genomes]
rs10941328	1.00[YRI][hapmap]
rs125684	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs150619	0.89[AFR][1000 genomes]
rs150620	1.00[ASW][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs150622	0.85[AFR][1000 genomes]
rs177811	0.89[AFR][1000 genomes]
rs2056872	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs216372	0.86[AFR][1000 genomes]
rs216373	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs216374	0.82[AFR][1000 genomes]
rs216375	0.89[AFR][1000 genomes]
rs216376	0.86[AFR][1000 genomes]
rs216378	0.85[AFR][1000 genomes]
rs216379	0.85[AFR][1000 genomes]
rs216381	0.85[AFR][1000 genomes]
rs216382	0.85[AFR][1000 genomes]
rs216383	0.85[AFR][1000 genomes]
rs216390	0.85[AFR][1000 genomes]
rs216391	0.85[AFR][1000 genomes]
rs216397	0.85[AFR][1000 genomes]
rs216399	1.00[ASW][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs216400	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs216401	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs217773	0.86[AFR][1000 genomes]
rs217774	0.86[AFR][1000 genomes]
rs217775	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs217779	1.00[ASW][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs217782	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs217783	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs217784	0.89[AFR][1000 genomes]
rs217785	0.89[AFR][1000 genomes]
rs217786	0.84[AFR][1000 genomes]
rs217791	0.89[AFR][1000 genomes]
rs217792	0.89[AFR][1000 genomes]
rs217796	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs217798	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs217800	0.85[AFR][1000 genomes]
rs217801	0.85[AFR][1000 genomes]
rs217815	0.85[AFR][1000 genomes]
rs217816	0.81[AFR][1000 genomes]
rs217824	0.85[AFR][1000 genomes]
rs217839	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs217852	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs217853	0.85[AFR][1000 genomes]
rs217854	0.85[AFR][1000 genomes]
rs217855	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs2548041	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2886592	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4869500	0.85[AFR][1000 genomes]
rs4869502	1.00[YRI][hapmap]
rs53429	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs56401	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs56402	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs56762878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594478	0.86[AFR][1000 genomes]
rs61739227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451315	1.00[YRI][hapmap]
rs73750913	1.00[AMR][1000 genomes]
rs73750921	1.00[AMR][1000 genomes]
rs73750931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750941	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750958	0.96[AFR][1000 genomes]
rs73750959	0.96[AFR][1000 genomes]
rs7715310	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
22	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7706007	FCER2	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
3	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:37185200-37226000	Weak transcription	HMEC	breast
6	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:37198600-37226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:37198600-37226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:37209400-37234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:37209600-37223800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:37209600-37224000	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:37209600-37226600	Weak transcription	NHLF	lung
13	chr5:37209600-37233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:37209600-37239800	Weak transcription	Small Intestine	intestine
15	chr5:37209600-37240200	Weak transcription	Colonic Mucosa	Colon
16	chr5:37209600-37248000	Weak transcription	Gastric	stomach
17	chr5:37209600-37248400	Weak transcription	NHEK	skin
18	chr5:37209800-37228600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:37210600-37228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:37210800-37228000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:37211000-37228200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:37211200-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:37211200-37237400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:37211800-37232600	Weak transcription	Esophagus	oesophagus
25	chr5:37211800-37234400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:37212400-37223600	Weak transcription	Brain Germinal Matrix	brain
27	chr5:37213400-37225400	Strong transcription	Osteobl	bone
28	chr5:37213400-37236200	Weak transcription	Right Ventricle	heart
29	chr5:37214000-37226400	Weak transcription	HepG2	liver
30	chr5:37214000-37233600	Weak transcription	Fetal Brain Male	brain
31	chr5:37214200-37223800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:37214400-37228000	Strong transcription	Adipose Nuclei	Adipose
33	chr5:37214600-37226600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:37215000-37224800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:37215000-37227600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:37215000-37230000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:37215000-37237000	Weak transcription	Fetal Heart	heart
38	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:37215200-37226600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:37215200-37227000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:37215200-37227000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:37215200-37232400	Weak transcription	Primary T cells from cord blood	blood
43	chr5:37215200-37233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:37215200-37234000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:37215200-37248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:37215400-37226600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:37215600-37227600	Weak transcription	Primary B cells from cord blood	blood
48	chr5:37215800-37223600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:37215800-37228600	Strong transcription	Dnd41	blood
50	chr5:37216000-37228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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