Variant report

Variant	rs4910448
Chromosome Location	chr11:9314585-9314586
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	chr11:9313564-9314609	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:9313506-9314797	K562	blood:	n/a	n/a
3	POLR2A	chr11:9314554-9315021	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9278298..9280527-chr11:9313092..9315469,2	K562	blood:

Variant related genes	Relation type
TMEM41B	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10743100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10840198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs11824009	1.00[TSI][hapmap]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	0.81[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4331093	0.92[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4372456	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	0.92[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs56306422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60602151	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7115224	1.00[TSI][hapmap]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73412059	1.00[AMR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	1.00[AMR][1000 genomes]
rs7942119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	0.92[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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
9	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr11:9287800-9328400	Weak transcription	A549	lung
6	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
8	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
10	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
14	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
15	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
16	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
18	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:9296800-9333200	Weak transcription	Ovary	ovary
20	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
23	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
25	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
28	chr11:9302400-9320200	Weak transcription	Stomach Mucosa	stomach
29	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
36	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
37	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
38	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:9302800-9318200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:9302800-9320600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:9302800-9321600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:9302800-9334600	Weak transcription	NH-A	brain
45	chr11:9303200-9315400	Weak transcription	HSMM	muscle
46	chr11:9303200-9318400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:9303200-9320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:9303400-9317000	Weak transcription	H1 Cell Line	embryonic stem cell

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