Variant report

Variant	rs17024597
Chromosome Location	chr2:40141033-40141034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40140709..40141329-chr2:40986882..40987436,2	MCF-7	breast:
2	chr2:40140915..40141986-chr2:40781509..40782393,3	MCF-7	breast:
3	chr2:40140455..40141410-chr2:40986765..40987805,5	MCF-7	breast:
4	chr2:40140445..40141319-chr2:41925707..41926458,2	K562	blood:
5	chr2:40140472..40141253-chr2:40471871..40472400,2	MCF-7	breast:
6	chr2:40140525..40141334-chr2:42009019..42009970,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11886005	1.00[EUR][1000 genomes]
rs11901693	1.00[EUR][1000 genomes]
rs1476988	1.00[ASN][1000 genomes]
rs17024600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2373785	1.00[JPT][hapmap]
rs4670292	1.00[EUR][1000 genomes]
rs4670985	1.00[ASN][1000 genomes]
rs56191830	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58096789	1.00[EUR][1000 genomes]
rs58237739	1.00[EUR][1000 genomes]
rs59028392	1.00[ASN][1000 genomes]
rs60496607	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732101	1.00[JPT][hapmap]
rs6733262	1.00[ASN][1000 genomes]
rs6747284	1.00[JPT][hapmap]
rs6752871	1.00[ASN][1000 genomes]
rs72931476	1.00[EUR][1000 genomes]
rs72934810	1.00[EUR][1000 genomes]
rs72938202	1.00[EUR][1000 genomes]
rs73924957	1.00[EUR][1000 genomes]
rs73927414	1.00[ASN][1000 genomes]
rs73927415	1.00[ASN][1000 genomes]
rs917972	1.00[ASN][1000 genomes]
rs917979	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv430947	chr2:40080723-40141649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv998885	chr2:40123904-40182851	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv873893	chr2:40137942-40222206	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873894	chr2:40139250-40198380	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv873895	chr2:40139250-40207338	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv873896	chr2:40139250-40208665	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv873897	chr2:40139250-40225253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv963910	chr2:40139364-40155674	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40138400-40150400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:40138400-40150800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:40140000-40141800	Enhancers	Fetal Thymus	thymus
4	chr2:40140600-40141400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:40140600-40146800	Enhancers	Dnd41	blood
6	chr2:40141000-40141200	Flanking Active TSS	Fetal Lung	lung
7	chr2:40141000-40141200	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:40141000-40141400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:40141000-40141400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:40141000-40141400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:40141000-40141400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40141000-40141400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:40141000-40141400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:40141000-40141400	Enhancers	Fetal Brain Male	brain
15	chr2:40141000-40141400	Enhancers	Fetal Intestine Small	intestine
16	chr2:40141000-40141400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:40141000-40141400	Enhancers	Left Ventricle	heart
18	chr2:40141000-40141400	Enhancers	Pancreas	Pancrea
19	chr2:40141000-40141400	Enhancers	HMEC	breast
20	chr2:40141000-40141400	Enhancers	NH-A	brain
21	chr2:40141000-40141400	Enhancers	NHDF-Ad	bronchial
22	chr2:40141000-40141400	Enhancers	NHLF	lung
23	chr2:40141000-40141600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:40141000-40141600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:40141000-40141600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:40141000-40141600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:40141000-40141600	Enhancers	Fetal Heart	heart
28	chr2:40141000-40141600	Enhancers	Ovary	ovary
29	chr2:40141000-40141600	Enhancers	HSMMtube	muscle
30	chr2:40141000-40141600	Enhancers	Osteobl	bone
31	chr2:40141000-40141800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:40141000-40141800	Enhancers	Fetal Kidney	kidney
33	chr2:40141000-40141800	Enhancers	Thymus	Thymus
34	chr2:40141000-40141800	Enhancers	HSMM	muscle
35	chr2:40141000-40142000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:40141000-40142000	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:40141000-40142200	Enhancers	Fetal Stomach	stomach

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