Variant report

Variant	rs4331093
Chromosome Location	chr11:9311973-9311974
allele	A/G
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: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10770011	0.84[AFR][1000 genomes]
rs10840197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs10840203	0.83[AMR][1000 genomes]
rs11042254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824009	1.00[TSI][hapmap]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	0.92[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4243946	0.83[ASW][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4384389	0.90[AFR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910448	0.92[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4993930	0.93[AFR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7115224	1.00[TSI][hapmap]
rs7119158	1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7927382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7948651	1.00[EUR][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	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

No data

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	chr11:9302600-9312000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:9302600-9312200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:9302600-9312200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:9302600-9312200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:9302600-9312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:9302600-9312600	Weak transcription	Thymus	Thymus
39	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
46	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
47	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
48	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links