Variant report

Variant	rs7929621
Chromosome Location	chr11:9276226-9276227
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	chr11:9267583..9270132-chr11:9274385..9279675,6	K562	blood:
2	chr11:9203394..9206265-chr11:9276047..9277871,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10454487	1.00[ASN][1000 genomes]
rs10840170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10840189	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042196	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042197	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042217	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042220	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042224	1.00[ASN][1000 genomes]
rs11042228	1.00[ASN][1000 genomes]
rs11042230	1.00[ASN][1000 genomes]
rs11042231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042232	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042233	1.00[ASN][1000 genomes]
rs11042240	1.00[ASN][1000 genomes]
rs11042241	1.00[ASN][1000 genomes]
rs11042242	0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042246	1.00[ASN][1000 genomes]
rs11042253	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11607384	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12286621	1.00[ASN][1000 genomes]
rs12360767	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12807631	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17257379	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2014868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2133215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2173406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4910037	0.87[EUR][1000 genomes]
rs4910443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs55962227	1.00[ASN][1000 genomes]
rs56294473	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693427	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs6486204	1.00[ASN][1000 genomes]
rs6486209	1.00[ASN][1000 genomes]
rs66554737	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67890540	0.90[EUR][1000 genomes]
rs7103472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7113467	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7114013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7121753	1.00[ASN][1000 genomes]
rs7129049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7130400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859676	1.00[ASN][1000 genomes]
rs72859678	1.00[ASN][1000 genomes]
rs72859693	1.00[ASN][1000 genomes]
rs7394454	1.00[ASN][1000 genomes]
rs7394869	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395631	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396115	1.00[CHB][hapmap]
rs7396130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7926864	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936622	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7938562	1.00[ASN][1000 genomes]
rs7940872	1.00[ASN][1000 genomes]
rs7945570	1.00[ASN][1000 genomes]
rs7945759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7949022	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7949349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9645644	1.00[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7929621	DNHD1	cis	cerebellum	SCAN
rs7929621	OR56A1	cis	cerebellum	SCAN
rs7929621	TMEM41B	cis	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:9257600-9276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:9264000-9276800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
10	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:9265200-9279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:9269400-9280000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:9270200-9282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:9271800-9280200	Weak transcription	HSMM	muscle
19	chr11:9272000-9278000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:9272000-9282000	Weak transcription	NHDF-Ad	bronchial
21	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
22	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
23	chr11:9272200-9279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:9272200-9281600	Weak transcription	Hela-S3	cervix
25	chr11:9272200-9281600	Weak transcription	Osteobl	bone
26	chr11:9272400-9281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:9272400-9282000	Weak transcription	NHLF	lung
28	chr11:9272400-9282800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:9272600-9281200	Weak transcription	Right Ventricle	heart
30	chr11:9272600-9281400	Weak transcription	Ovary	ovary
31	chr11:9272600-9281400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
33	chr11:9272800-9278000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:9273200-9276400	Enhancers	Primary T cells from cord blood	blood
35	chr11:9273200-9276600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:9273200-9276600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:9273200-9278200	Weak transcription	A549	lung
38	chr11:9273200-9282600	Weak transcription	Thymus	Thymus
39	chr11:9273200-9285400	Weak transcription	K562	blood
40	chr11:9273400-9278200	Weak transcription	NHEK	skin
41	chr11:9273400-9280000	Weak transcription	GM12878-XiMat	blood
42	chr11:9273400-9281200	Weak transcription	Primary B cells from cord blood	blood
43	chr11:9273600-9276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:9273600-9278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:9274000-9278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:9274400-9277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:9274400-9277600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:9274600-9277400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:9274600-9277600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:9274600-9277600	Strong transcription	Fetal Stomach	stomach

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