Variant report

Variant	rs17012759
Chromosome Location	chr2:33515711-33515712
allele	A/G
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	TCF12	chr2:33515710-33517267	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33513308..33515964-chr2:33519124..33522873,3	K562	blood:

Variant related genes	Relation type
LTBP1	TF binding region
RNA5SP91	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11894366	1.00[EUR][1000 genomes]
rs17012711	1.00[YRI][hapmap]
rs17012717	1.00[EUR][1000 genomes]
rs17012719	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs17012722	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17012726	1.00[EUR][1000 genomes]
rs17012731	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17012736	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17012740	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012783	1.00[EUR][1000 genomes]
rs3769531	0.82[YRI][hapmap]
rs3769535	0.83[YRI][hapmap]
rs41329047	1.00[EUR][1000 genomes]
rs6716750	1.00[EUR][1000 genomes]
rs6716764	0.83[YRI][hapmap]
rs73925691	1.00[EUR][1000 genomes]
rs7560761	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7599038	1.00[EUR][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	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
6	nsv1011020	chr2:33508811-33527784	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
8	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
9	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:33501400-33516600	Weak transcription	K562	blood
11	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:33502400-33516000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:33502400-33516600	Weak transcription	Pancreas	Pancrea
14	chr2:33502400-33516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:33502400-33516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:33502400-33516800	Weak transcription	Esophagus	oesophagus
17	chr2:33502600-33515800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:33503600-33518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:33504000-33515800	Weak transcription	Fetal Brain Female	brain
21	chr2:33504200-33516000	Weak transcription	Fetal Brain Male	brain
22	chr2:33505000-33526200	Weak transcription	Placenta	Placenta
23	chr2:33506800-33515800	Weak transcription	Right Ventricle	heart
24	chr2:33507000-33528600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:33511800-33515800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:33513200-33516000	Enhancers	HUVEC	blood vessel
27	chr2:33513600-33516600	Weak transcription	Left Ventricle	heart
28	chr2:33514000-33515800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:33514600-33516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:33514800-33516600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:33515000-33516200	Enhancers	Ovary	ovary
32	chr2:33515000-33516400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:33515200-33515800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:33515200-33516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:33515200-33516000	Enhancers	A549	lung
36	chr2:33515200-33516200	Enhancers	NH-A	brain
37	chr2:33515200-33516400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:33515200-33516400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:33515200-33516400	Enhancers	NHLF	lung
40	chr2:33515200-33516600	Enhancers	Fetal Lung	lung
41	chr2:33515200-33516600	Enhancers	HSMMtube	muscle
42	chr2:33515200-33517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:33515200-33517000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:33515200-33517000	Enhancers	Fetal Stomach	stomach
45	chr2:33515200-33519200	Enhancers	Fetal Heart	heart
46	chr2:33515400-33515800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:33515400-33516400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:33515400-33516400	Enhancers	NHDF-Ad	bronchial
49	chr2:33515400-33516400	Enhancers	Osteobl	bone
50	chr2:33515400-33516600	Enhancers	Colon Smooth Muscle	Colon

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