Variant report

Variant	rs72994789
Chromosome Location	chr2:161029709-161029710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161029621..161032240-chr2:161097556..161099652,2	MCF-7	breast:
2	chr2:161029423..161031683-chr2:161033296..161035758,2	MCF-7	breast:
3	chr2:161023086..161025481-chr2:161028463..161031210,2	MCF-7	breast:
4	chr2:161027893..161029945-chr2:161054838..161057768,2	MCF-7	breast:
5	chr2:161000112..161002842-chr2:161027169..161029887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115221	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs60483927	0.80[AFR][1000 genomes]
rs61402265	0.80[AFR][1000 genomes]
rs6735398	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994799	0.92[AFR][1000 genomes]
rs72996703	0.92[AFR][1000 genomes]
rs73008720	1.00[AMR][1000 genomes]
rs73008728	1.00[AMR][1000 genomes]
rs73008730	1.00[AMR][1000 genomes]
rs73008800	1.00[AMR][1000 genomes]
rs73010545	1.00[AMR][1000 genomes]
rs73012621	1.00[AMR][1000 genomes]
rs7587638	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
3	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
5	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:161016000-161030800	Strong transcription	HMEC	breast
7	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:161022200-161030800	Strong transcription	NHEK	skin
11	chr2:161023000-161037000	Weak transcription	Stomach Mucosa	stomach
12	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
13	chr2:161025400-161029800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:161026400-161030400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:161026400-161030800	Weak transcription	A549	lung
17	chr2:161026400-161037800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:161026800-161037400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:161027200-161030200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:161027200-161051400	Weak transcription	Gastric	stomach
21	chr2:161028800-161030600	Weak transcription	Fetal Kidney	kidney
22	chr2:161028800-161037400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:161029200-161031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:161029200-161037200	Weak transcription	Lung	lung
25	chr2:161029200-161037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:161029200-161037400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:161029200-161051000	Weak transcription	HSMM	muscle
28	chr2:161029400-161030800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle

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