Variant report

Variant	rs687037
Chromosome Location	chr11:77596104-77596105
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10899404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs11237280	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237318	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11600140	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11606549	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11607032	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12285765	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1783544	0.92[EUR][1000 genomes]
rs2154972	0.90[EUR][1000 genomes]
rs24356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs2508189	0.90[EUR][1000 genomes]
rs34130561	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824865	1.00[YRI][hapmap]
rs4322421	0.89[EUR][1000 genomes]
rs4344516	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs484363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs537811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs56218634	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs588217	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs598071	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs614495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs621456	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs623173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs623907	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs635195	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs636971	0.94[EUR][1000 genomes]
rs643388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs648601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs648896	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs650171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs663674	0.88[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs667225	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs668701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670090	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs684813	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs694845	0.94[EUR][1000 genomes]
rs695046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7123080	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs72947668	0.83[AMR][1000 genomes]
rs72949616	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72949618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs7951033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs947841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv555453	chr11:77577494-77618441	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs687037	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77569000-77597600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
3	chr11:77578600-77597400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:77578800-77601400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:77579200-77625000	Weak transcription	HMEC	breast
6	chr11:77579800-77597800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:77580000-77597800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:77580200-77597400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:77580800-77597800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:77581000-77597400	Weak transcription	Psoas Muscle	Psoas
11	chr11:77582000-77598000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
14	chr11:77584600-77597800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:77584800-77596400	Strong transcription	Liver	Liver
16	chr11:77584800-77597800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:77585000-77596200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:77585200-77597800	Strong transcription	Fetal Stomach	stomach
19	chr11:77585600-77597600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:77586200-77596400	Strong transcription	Fetal Brain Female	brain
21	chr11:77586200-77597600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:77586200-77597600	Strong transcription	Lung	lung
23	chr11:77586400-77597800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:77586600-77597800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:77586600-77597800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:77586600-77597800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:77586600-77625000	Weak transcription	Stomach Mucosa	stomach
28	chr11:77586800-77597400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:77586800-77597800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:77587200-77617600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:77587400-77597600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:77587600-77597800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:77587800-77603800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:77588200-77614000	Weak transcription	Right Ventricle	heart
35	chr11:77589200-77597400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:77589200-77597800	Strong transcription	Thymus	Thymus
37	chr11:77589400-77597800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:77589600-77597800	Strong transcription	Fetal Intestine Small	intestine
39	chr11:77590000-77596800	Weak transcription	A549	lung
40	chr11:77590600-77597400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:77590600-77597600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:77590600-77597800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:77590600-77597800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:77590600-77598000	Strong transcription	Fetal Thymus	thymus
45	chr11:77590600-77600800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:77590800-77597800	Strong transcription	Fetal Lung	lung
47	chr11:77591000-77597400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:77591000-77597800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:77591000-77597800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:77591200-77605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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