Variant report

Variant	rs10770010
Chromosome Location	chr11:9312034-9312035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9311929-9312868	K562	blood:	n/a	n/a
2	POLR2A	chr11:9311955-9312056	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
TMEM41B	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1039210	0.94[YRI][hapmap]
rs10743104	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10743105	0.88[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes]
rs10769995	0.89[YRI][hapmap]
rs10770002	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770003	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770004	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770009	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770013	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770016	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10840196	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840201	0.81[ASN][1000 genomes]
rs10840204	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840205	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840207	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042245	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042252	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042256	0.96[ASN][1000 genomes]
rs11042262	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042264	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042267	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042269	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042274	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11500788	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11602591	0.97[ASN][1000 genomes]
rs12574882	0.88[ASN][1000 genomes]
rs12577661	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12796666	0.94[ASN][1000 genomes]
rs12801814	0.95[ASN][1000 genomes]
rs2133216	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs34446443	0.98[ASN][1000 genomes]
rs34494849	0.91[ASN][1000 genomes]
rs34716494	0.95[ASN][1000 genomes]
rs35381016	0.96[ASN][1000 genomes]
rs35686957	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4325312	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4343026	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4369406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447178	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570580	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4601779	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4641476	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5014247	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs61875672	0.94[ASN][1000 genomes]
rs61875673	0.96[ASN][1000 genomes]
rs61877916	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486206	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs6486210	0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap]
rs6486231	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7101432	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104221	0.87[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs7112540	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs7114688	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs7116459	0.95[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7121013	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123970	0.89[YRI][hapmap]
rs7124178	0.89[ASN][1000 genomes]
rs71476818	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7358313	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7358392	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7395151	0.89[YRI][hapmap]
rs7395846	0.81[YRI][hapmap]
rs7396439	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap]
rs7952508	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9888193	0.87[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs9888229	0.87[CHB][hapmap];0.91[JPT][hapmap]

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	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised 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	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv32901	chr11:9311131-9328869	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10770010	CCKBR	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9287400-9332600	Weak transcription	HMEC	breast
3	chr11:9287400-9333000	Weak transcription	Gastric	stomach
4	chr11:9287600-9319200	Weak transcription	NHLF	lung
5	chr11:9287800-9312200	Weak transcription	K562	blood
6	chr11:9287800-9328400	Weak transcription	A549	lung
7	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
9	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
11	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
16	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
17	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
18	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
20	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:9296800-9333200	Weak transcription	Ovary	ovary
22	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
25	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
27	chr11:9299600-9312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:9301800-9312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
32	chr11:9302400-9320200	Weak transcription	Stomach Mucosa	stomach
33	chr11:9302600-9312200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:9302600-9312200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:9302600-9312200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:9302600-9312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:9302600-9312600	Weak transcription	Thymus	Thymus
38	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
45	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
46	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
47	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:9302800-9314200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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