Variant report

Variant	rs7115754
Chromosome Location	chr11:9877047-9877048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10840327	1.00[CHD][hapmap]
rs11042500	1.00[CHD][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs11042543	1.00[CHD][hapmap]
rs11042561	1.00[CHD][hapmap]
rs11042595	1.00[CHD][hapmap]
rs11601212	1.00[CHD][hapmap]
rs11603291	1.00[CHD][hapmap]
rs11608212	0.88[LWK][hapmap]
rs171493	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs17355675	1.00[CHD][hapmap]
rs17355751	0.88[LWK][hapmap]
rs360166	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4910071	1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs4910075	1.00[CHD][hapmap]
rs4910081	1.00[CHD][hapmap]
rs4910084	1.00[CHD][hapmap]
rs56067762	0.81[AFR][1000 genomes]
rs6483781	1.00[YRI][hapmap]
rs7110027	1.00[YRI][hapmap]
rs7938647	1.00[CHD][hapmap]
rs7949493	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7115754	SNORA23	cis	parietal	SCAN
rs7115754	OR10A6	cis	cerebellum	SCAN
rs7115754	OVCH2	cis	cerebellum	SCAN
rs7115754	DNHD1	cis	parietal	SCAN
rs7115754	PTH	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9818600-9881400	Weak transcription	Spleen	Spleen
2	chr11:9830400-9880400	Weak transcription	Thymus	Thymus
3	chr11:9830800-9880600	Weak transcription	Fetal Brain Male	brain
4	chr11:9833600-9878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:9834600-9877200	Weak transcription	Right Ventricle	heart
6	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
7	chr11:9838600-9879800	Weak transcription	Fetal Thymus	thymus
8	chr11:9851200-9880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:9851600-9880400	Weak transcription	Small Intestine	intestine
10	chr11:9853400-9877400	Weak transcription	Brain Substantia Nigra	brain
11	chr11:9854000-9877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:9854000-9880600	Weak transcription	Colonic Mucosa	Colon
13	chr11:9856600-9880000	Weak transcription	Fetal Heart	heart
14	chr11:9859800-9880200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:9861400-9877400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:9861400-9879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:9861400-9879800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:9861400-9879800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:9861400-9880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:9863000-9879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:9863400-9877600	Weak transcription	HMEC	breast
22	chr11:9863400-9880000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:9863600-9879800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:9863800-9883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:9865000-9879800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:9865800-9877200	Weak transcription	Gastric	stomach
27	chr11:9866000-9880400	Weak transcription	Esophagus	oesophagus
28	chr11:9866000-9880400	Weak transcription	Pancreas	Pancrea
29	chr11:9868400-9877200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:9868600-9883400	Weak transcription	HSMMtube	muscle
31	chr11:9868800-9877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:9868800-9877200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:9868800-9877200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:9868800-9877400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:9868800-9877400	Weak transcription	Brain Angular Gyrus	brain
36	chr11:9868800-9879800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:9869000-9877400	Weak transcription	Lung	lung
38	chr11:9870600-9878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:9871600-9877200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:9871600-9877400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9871800-9877200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:9872000-9877200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:9872000-9877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:9872000-9877400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:9872200-9879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:9873400-9878400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:9873400-9878400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:9873600-9878200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:9873600-9880000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:9874200-9877800	Weak transcription	NH-A	brain

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