Variant report

Variant	rs1789680
Chromosome Location	chr11:74990705-74990706
allele	A/T
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	MAZ	chr11:74989930-74990723	IMR90	lung:	n/a	chr11:74990479-74990489

No.	Distal block	Cell Line	Cell type
1	chr11:74990165..74992866-chr11:75095168..75097303,2	K562	blood:
2	chr11:74990481..74991855-chr11:75094739..75096203,15	MCF-7	breast:
3	chr11:74989818..74992484-chr11:75109235..75112045,2	K562	blood:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1621185	0.82[AFR][1000 genomes]
rs1789681	0.82[AFR][1000 genomes]
rs1789687	0.82[AFR][1000 genomes]
rs1789689	0.82[AFR][1000 genomes]
rs2282600	0.81[AFR][1000 genomes]
rs34559163	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
2	chr11:74972800-74991400	Weak transcription	Right Atrium	heart
3	chr11:74975200-74991200	Strong transcription	Fetal Stomach	stomach
4	chr11:74975600-74991400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:74975600-74999000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:74975800-74991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:74976200-74991800	Strong transcription	Lung	lung
8	chr11:74976600-74994200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:74978600-74995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:74979000-74994400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:74980000-74991200	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:74982000-74991000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:74982000-74991600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:74982200-74991400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr11:74982200-74991600	Strong transcription	Gastric	stomach
16	chr11:74983600-74996000	Weak transcription	Aorta	Aorta
17	chr11:74983800-74996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:74984600-74991200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:74985000-74991400	Weak transcription	NHLF	lung
20	chr11:74985200-74991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:74985400-74994600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:74985400-74995600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:74986400-74991000	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:74986600-74991200	Strong transcription	Brain Anterior Caudate	brain
25	chr11:74986600-74991600	Strong transcription	HepG2	liver
26	chr11:74986800-74991200	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:74987000-74991200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr11:74987200-74998800	Strong transcription	Fetal Brain Female	brain
29	chr11:74987200-74999400	Weak transcription	Fetal Kidney	kidney
30	chr11:74987400-74990800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:74987400-74991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:74987600-74990800	Strong transcription	Brain Angular Gyrus	brain
33	chr11:74987600-74991200	Strong transcription	Adipose Nuclei	Adipose
34	chr11:74987600-74991400	Strong transcription	Colon Smooth Muscle	Colon
35	chr11:74987800-74991000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:74987800-74991400	Strong transcription	Fetal Intestine Large	intestine
37	chr11:74987800-74991800	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr11:74987800-74998800	Strong transcription	Colonic Mucosa	Colon
39	chr11:74988000-74991000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:74988000-74991400	Strong transcription	Fetal Intestine Small	intestine
41	chr11:74988000-74991400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:74988200-74991400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:74988200-74994600	Strong transcription	Fetal Lung	lung
44	chr11:74988200-75002000	Weak transcription	Thymus	Thymus
45	chr11:74988200-75008600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:74988200-75012400	Weak transcription	Small Intestine	intestine
47	chr11:74988400-75005400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:74988600-74991800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:74988600-75001000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:74988800-75004200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links