Variant report

Variant	rs62362011
Chromosome Location	chr5:75878644-75878645
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	chr5:75878372..75880301-chr5:75883948..75885454,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11948140	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11951829	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11952193	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11952962	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1393098	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1501689	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873476	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873483	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873519	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2005247	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736395	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3913473	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913474	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913475	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704328	0.82[EUR][1000 genomes]
rs4704334	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4704335	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704337	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704341	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4704342	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4704343	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4704344	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58542602	0.82[EUR][1000 genomes]
rs62361989	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361990	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62361991	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361992	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62361993	0.84[EUR][1000 genomes]
rs62361994	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62361997	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62362012	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62362013	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62362014	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62362016	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62362017	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62362019	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362020	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362022	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362035	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362036	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362037	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362038	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362039	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62362043	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72775801	0.83[EUR][1000 genomes]
rs72777503	0.85[EUR][1000 genomes]
rs72777520	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72777522	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62362011	IQGAP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:75861200-75889600	Weak transcription	Fetal Stomach	stomach
6	chr5:75862200-75885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:75862800-75880200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:75865400-75885800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:75867800-75886000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:75868000-75884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:75868000-75885200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:75868000-75885400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:75871400-75878800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:75873600-75903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:75874000-75892400	Weak transcription	Spleen	Spleen
16	chr5:75874200-75882000	Weak transcription	Esophagus	oesophagus
17	chr5:75875000-75879200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:75875200-75884000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:75876400-75879400	Enhancers	Liver	Liver
20	chr5:75876600-75879200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:75876600-75879200	Enhancers	Fetal Intestine Large	intestine
22	chr5:75876600-75879200	Enhancers	Fetal Intestine Small	intestine
23	chr5:75876600-75879200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:75876600-75879600	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:75877000-75879200	Genic enhancers	Primary hematopoietic stem cells	blood
26	chr5:75877000-75879200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:75877000-75879200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:75877000-75880200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:75877000-75885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:75877000-75902800	Weak transcription	Adipose Nuclei	Adipose
31	chr5:75877200-75879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:75877200-75880200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:75877400-75880200	Weak transcription	Gastric	stomach
34	chr5:75877400-75902800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:75877600-75879200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:75877800-75879000	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:75877800-75879000	Enhancers	NH-A	brain
38	chr5:75877800-75879200	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:75877800-75879400	Enhancers	K562	blood
40	chr5:75878000-75879200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:75878200-75879000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:75878200-75879200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:75878200-75879200	Enhancers	Primary B cells from cord blood	blood
44	chr5:75878200-75879400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:75878200-75879400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:75878200-75879600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:75878400-75878800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:75878400-75879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:75878400-75879000	Enhancers	Small Intestine	intestine
50	chr5:75878400-75879200	Enhancers	H9 Cell Line	embryonic stem cell

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