Variant report

Variant	rs7931491
Chromosome Location	chr11:9303121-9303122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9286396..9288555-chr11:9303070..9305468,2	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10743100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4372456	1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[AMR][1000 genomes];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]
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]
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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	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:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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

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	chr11:9287600-9304800	Weak transcription	NHEK	skin
5	chr11:9287600-9319200	Weak transcription	NHLF	lung
6	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:9287800-9312200	Weak transcription	K562	blood
8	chr11:9287800-9328400	Weak transcription	A549	lung
9	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
11	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
13	chr11:9289600-9311600	Weak transcription	HepG2	liver
14	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:9293800-9311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:9296000-9307600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:9296600-9307400	Weak transcription	Lung	lung
20	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
22	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
23	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
24	chr11:9296800-9307800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
27	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:9296800-9333200	Weak transcription	Ovary	ovary
29	chr11:9297000-9307800	Weak transcription	HUVEC	blood vessel
30	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
33	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:9299200-9303600	Weak transcription	Fetal Lung	lung
35	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
36	chr11:9299400-9305600	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:9299600-9312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:9301200-9303800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:9301400-9303200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:9301400-9303800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:9301600-9303200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:9301600-9303200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:9301600-9303200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:9301600-9303200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr11:9301600-9303200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:9301600-9303400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:9301600-9303400	Enhancers	Dnd41	blood
48	chr11:9301600-9305200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:9301600-9305400	Strong transcription	Fetal Intestine Large	intestine
50	chr11:9301600-9305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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