Variant report

Variant	rs12283229
Chromosome Location	chr11:120295772-120295773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120294351..120296424-chr11:120305682..120307197,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10437691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs11217917	1.00[YRI][hapmap]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12280403	1.00[AMR][1000 genomes]
rs12281995	1.00[YRI][hapmap]
rs12285146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286309	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12288495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288854	1.00[AMR][1000 genomes]
rs12288900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290756	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123749	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
7	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:120275600-120302600	Weak transcription	K562	blood
9	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
12	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
13	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:120280400-120299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:120284800-120298800	Weak transcription	NH-A	brain
16	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
17	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
18	chr11:120285600-120319800	Weak transcription	Gastric	stomach
19	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
21	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:120290400-120296200	Strong transcription	HSMM	muscle
24	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:120290800-120302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:120291600-120296200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
29	chr11:120292200-120295800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:120292400-120296400	Strong transcription	HepG2	liver
31	chr11:120293000-120309000	Weak transcription	Fetal Stomach	stomach
32	chr11:120293200-120295800	Weak transcription	Left Ventricle	heart
33	chr11:120293200-120295800	Weak transcription	Lung	lung
34	chr11:120293200-120298600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:120293200-120298800	Weak transcription	Fetal Kidney	kidney
36	chr11:120293200-120302600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
38	chr11:120294800-120296000	Genic enhancers	NHDF-Ad	bronchial
39	chr11:120294800-120296600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:120294800-120296800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:120295000-120295800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:120295000-120295800	Strong transcription	Fetal Lung	lung
43	chr11:120295000-120296000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:120295000-120296000	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:120295000-120296000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:120295000-120296000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:120295000-120296000	Enhancers	HMEC	breast
48	chr11:120295000-120296000	Genic enhancers	NHLF	lung
49	chr11:120295000-120296200	Strong transcription	Fetal Brain Male	brain
50	chr11:120295000-120296400	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links