Variant report

Variant	rs11883651
Chromosome Location	chr2:33491608-33491609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41400425..41402576-chr2:33491310..33492810,2	K562	blood:
2	chr2:33491310..33492830-chr3:73158437..73159956,2	K562	blood:
3	chr17:41392284..41394674-chr2:33491310..33492810,2	K562	blood:
4	chr2:33171933..33174048-chr2:33491328..33494220,2	MCF-7	breast:
5	chr17:41463791..41467360-chr2:33489830..33492830,6	K562	blood:
6	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:
7	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1453845	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123769	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3769531	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs3769535	0.88[CEU][hapmap]
rs3816479	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3820913	0.81[JPT][hapmap]
rs870858	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:33486600-33493400	Weak transcription	Fetal Kidney	kidney
6	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:33487200-33492200	Weak transcription	Right Atrium	heart
8	chr2:33487800-33492000	Strong transcription	Osteobl	bone
9	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:33488200-33492400	Strong transcription	Liver	Liver
11	chr2:33489800-33492600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr2:33489800-33493000	Strong transcription	Aorta	Aorta
13	chr2:33490000-33492400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr2:33490000-33493000	Enhancers	HMEC	breast
15	chr2:33490000-33499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:33490200-33493800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:33490600-33492400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:33490600-33492600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:33491000-33492000	Strong transcription	Fetal Heart	heart
21	chr2:33491000-33492200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:33491000-33492400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr2:33491000-33492400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:33491000-33492400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:33491000-33492400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr2:33491000-33492400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr2:33491000-33492400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr2:33491000-33492400	ZNF genes & repeats	Fetal Stomach	stomach
29	chr2:33491000-33492400	ZNF genes & repeats	Gastric	stomach
30	chr2:33491000-33492400	ZNF genes & repeats	Lung	lung
31	chr2:33491000-33492400	ZNF genes & repeats	Spleen	Spleen
32	chr2:33491000-33492400	ZNF genes & repeats	Dnd41	blood
33	chr2:33491000-33492400	ZNF genes & repeats	NH-A	brain
34	chr2:33491000-33492600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:33491000-33492600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:33491000-33492600	ZNF genes & repeats	Ovary	ovary
37	chr2:33491000-33492600	ZNF genes & repeats	NHLF	lung
38	chr2:33491200-33491800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:33491200-33491800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:33491200-33491800	ZNF genes & repeats	Brain Angular Gyrus	brain
41	chr2:33491200-33491800	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr2:33491200-33492000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:33491200-33492000	ZNF genes & repeats	Fetal Brain Female	brain
44	chr2:33491200-33492000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr2:33491200-33492000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr2:33491200-33492000	ZNF genes & repeats	A549	lung
47	chr2:33491200-33492200	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr2:33491200-33492200	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr2:33491200-33492200	ZNF genes & repeats	Placenta	Placenta
50	chr2:33491200-33492400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links