Variant report

Variant	rs73402323
Chromosome Location	chr11:9194106-9194107
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	MAX	chr11:9193928-9194406	ECC-1	luminal epithelium:	n/a	n/a
2	SETDB1	chr11:9194021-9194344	U2OS	brain:	n/a	n/a
3	PAX5	chr11:9194031-9194295	GM12878	blood:	n/a	n/a
4	CHD2	chr11:9193959-9194213	K562	blood:	n/a	n/a

Variant related genes	Relation type
DENND5A	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs11601190	0.93[AFR][1000 genomes]
rs11601229	0.99[AFR][1000 genomes]
rs11606969	0.93[AFR][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]
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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AFR][1000 genomes];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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	0.83[AFR][1000 genomes];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[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	0.82[AFR][1000 genomes];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]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	0.92[AFR][1000 genomes];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	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:4 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
3	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:9166000-9200600	Weak transcription	Colonic Mucosa	Colon
5	chr11:9169200-9198400	Weak transcription	Thymus	Thymus
6	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
7	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:9172200-9197800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:9172200-9199600	Weak transcription	Gastric	stomach
11	chr11:9173000-9199400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:9173400-9199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:9173600-9199600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:9174000-9194800	Weak transcription	Fetal Kidney	kidney
15	chr11:9174000-9198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:9174000-9199400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:9178200-9195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:9180000-9199600	Weak transcription	Aorta	Aorta
20	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:9182600-9198000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:9182600-9199000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:9182600-9199600	Weak transcription	Fetal Brain Male	brain
25	chr11:9183000-9195400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:9184000-9195200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:9184000-9195400	Strong transcription	Fetal Stomach	stomach
28	chr11:9184000-9195600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:9184200-9208200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:9184200-9216800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:9186000-9195400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:9186000-9195400	Strong transcription	Adipose Nuclei	Adipose
33	chr11:9186800-9195400	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:9186800-9215800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:9187000-9195400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:9187200-9195000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:9187200-9195200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:9187200-9197800	Weak transcription	Brain Germinal Matrix	brain
39	chr11:9187600-9201800	Weak transcription	Pancreas	Pancrea
40	chr11:9188800-9195000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:9189000-9195200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr11:9189200-9195200	Strong transcription	Placenta	Placenta
43	chr11:9189400-9194200	Strong transcription	Primary T cells from cord blood	blood
44	chr11:9189400-9195200	Strong transcription	Primary B cells from cord blood	blood
45	chr11:9189800-9194200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:9190000-9198400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:9190400-9195400	Strong transcription	HepG2	liver
48	chr11:9190400-9197800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:9191000-9194200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:9191600-9194600	Weak transcription	Brain Hippocampus Middle	brain

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