Variant report

Variant	rs6724949
Chromosome Location	chr2:160964100-160964101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:160955602..160957276-chr2:160963515..160965227,2	MCF-7	breast:
2	chr2:160944054..160944666-chr2:160963508..160964350,2	K562	blood:
3	chr2:160963372..160965662-chr2:161085963..161088165,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11890990	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2357863	1.00[MEX][hapmap]
rs2667034	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2925764	1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs2925765	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs2966388	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs3111394	1.00[YRI][hapmap]
rs56082404	0.99[AFR][1000 genomes]
rs59101427	1.00[AMR][1000 genomes]
rs6715928	1.00[AMR][1000 genomes]
rs73967991	1.00[AMR][1000 genomes]
rs73968013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968047	0.83[AFR][1000 genomes]
rs7602804	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606596	1.00[MEX][hapmap]
rs925408	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160950800-160967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:160953200-160970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:160954600-160970800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:160954800-160966200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:160955400-160965000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:160955800-160968800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:160956200-160965600	Strong transcription	HMEC	breast
9	chr2:160957000-160970200	Weak transcription	Pancreas	Pancrea
10	chr2:160957400-160981200	Weak transcription	Lung	lung
11	chr2:160958400-160965200	Strong transcription	NHEK	skin
12	chr2:160959200-161004200	Weak transcription	Gastric	stomach
13	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
14	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
15	chr2:160959800-160965800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:160960000-160966400	Weak transcription	HSMMtube	muscle
17	chr2:160960400-160965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:160960800-160964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:160961000-160965600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:160962000-160966200	Strong transcription	HSMM	muscle
21	chr2:160962400-160970800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:160962800-160971000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr2:160963800-160964400	Strong transcription	Fetal Intestine Large	intestine
24	chr2:160963800-160964400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:160963800-160969200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:160964000-160964200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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