Variant report

Variant	rs7118897
Chromosome Location	chr11:68360680-68360681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10501398	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs10896334	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10896337	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10896338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs10896339	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10896341	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10896347	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap]
rs10896348	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs11228251	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs11228256	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap]
rs11228258	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs11228262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11228269	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap]
rs11228279	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11228284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11228287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11228292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs11228293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11822059	0.92[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs1193699	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12226585	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12271290	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs12272917	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12281742	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs12283755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap]
rs12284933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs12294029	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2155730	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2186937	0.81[MEX][hapmap]
rs2236708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs2282563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2513277	0.92[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2840367	0.92[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs3736228	0.81[MEX][hapmap]
rs3740628	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs3740629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs3740631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs3758643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap]
rs3867143	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4316515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs488381	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs4988291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs624003	0.84[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6591340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6591341	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs6591344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7102273	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7102898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs7104345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7104877	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs7106259	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap]
rs7107622	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs7108376	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs7109294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs7113287	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7116994	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7119422	0.92[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs7123564	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap]
rs7124078	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs7126340	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7126451	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs7127948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7925275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs7936582	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs7944870	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap]
rs7950900	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs948315	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs948316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7118897	CD248	cis	cerebellum	SCAN
rs7118897	C11orf85	cis	parietal	SCAN
rs7118897	SHANK2	cis	cerebellum	SCAN
rs7118897	TM7SF2	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
6	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
7	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
10	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:68319800-68384000	Strong transcription	Liver	Liver
12	chr11:68321000-68361800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:68324400-68362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:68324600-68361600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:68325600-68361200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:68328800-68362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:68328800-68380600	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:68336800-68383800	Strong transcription	Dnd41	blood
22	chr11:68337000-68384000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:68337200-68381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:68337200-68384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:68337400-68361800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:68337400-68383400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:68337400-68383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:68337600-68384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:68337800-68361600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:68341800-68383400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:68342200-68385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:68347800-68374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:68351000-68383200	Strong transcription	Fetal Intestine Large	intestine
34	chr11:68351200-68362000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:68351200-68373000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:68351200-68383800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:68351600-68360800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:68351600-68361600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:68351600-68366200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:68351600-68384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:68351800-68361800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:68351800-68362000	Strong transcription	Osteobl	bone
43	chr11:68351800-68363400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:68351800-68382800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:68352000-68363200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:68352000-68376400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:68352000-68383600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:68352200-68361200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:68352400-68361600	Strong transcription	Adipose Nuclei	Adipose
50	chr11:68352400-68361800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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