Variant report

Variant	rs28529291
Chromosome Location	chr2:100831772-100831773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100828123..100832534-chr2:100834410..100837969,5	K562	blood:
2	chr2:100830080..100832586-chr2:100833849..100837310,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10166685	1.00[AMR][1000 genomes]
rs10195002	1.00[AMR][1000 genomes]
rs10197691	1.00[AMR][1000 genomes]
rs11885543	1.00[AMR][1000 genomes]
rs12328904	1.00[AMR][1000 genomes]
rs13392606	1.00[AMR][1000 genomes]
rs13397862	1.00[AMR][1000 genomes]
rs13399298	1.00[AMR][1000 genomes]
rs13399343	1.00[AMR][1000 genomes]
rs13400243	1.00[AMR][1000 genomes]
rs13400704	1.00[AMR][1000 genomes]
rs13416518	1.00[AMR][1000 genomes]
rs13427006	1.00[AMR][1000 genomes]
rs13429281	1.00[AMR][1000 genomes]
rs17023784	1.00[AMR][1000 genomes]
rs17023787	1.00[AMR][1000 genomes]
rs17023795	1.00[AMR][1000 genomes]
rs17023813	1.00[AMR][1000 genomes]
rs17023822	1.00[AMR][1000 genomes]
rs17023879	1.00[AMR][1000 genomes]
rs57419659	1.00[AMR][1000 genomes]
rs6707671	1.00[AMR][1000 genomes]
rs6708691	1.00[AMR][1000 genomes]
rs7583182	1.00[AMR][1000 genomes]
rs7586717	1.00[AMR][1000 genomes]
rs7601715	1.00[AMR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100825200-100832400	Weak transcription	Fetal Brain Female	brain
2	chr2:100826400-100832200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:100827800-100832200	Enhancers	Psoas Muscle	Psoas
4	chr2:100827800-100832200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:100828800-100832400	Enhancers	Fetal Heart	heart
6	chr2:100829000-100832200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:100829000-100832400	Enhancers	Left Ventricle	heart
8	chr2:100829200-100832200	Enhancers	Aorta	Aorta
9	chr2:100829200-100832200	Enhancers	Fetal Muscle Leg	muscle
10	chr2:100829200-100832400	Enhancers	Right Ventricle	heart
11	chr2:100829200-100832800	Enhancers	Colon Smooth Muscle	Colon
12	chr2:100829400-100831800	Enhancers	Fetal Lung	lung
13	chr2:100829800-100831800	Enhancers	Fetal Intestine Small	intestine
14	chr2:100830200-100832000	Enhancers	HepG2	liver
15	chr2:100830200-100832400	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:100830200-100832400	Enhancers	Fetal Stomach	stomach
17	chr2:100830400-100831800	Enhancers	Right Atrium	heart
18	chr2:100830400-100832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:100831200-100832000	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:100831200-100832600	Weak transcription	Pancreas	Pancrea
21	chr2:100831200-100832600	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:100831200-100832800	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:100831400-100832400	Weak transcription	Colonic Mucosa	Colon
24	chr2:100831400-100832400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:100831400-100833400	Enhancers	Liver	Liver
26	chr2:100831400-100840200	Weak transcription	Lung	lung
27	chr2:100831600-100832200	Weak transcription	Stomach Mucosa	stomach
28	chr2:100831600-100832600	Enhancers	Skeletal Muscle Male	skeletal muscle

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