Variant report

Variant	rs12290980
Chromosome Location	chr11:34281220-34281221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34278605..34281312-chr11:34339472..34341100,2	K562	blood:
2	chr11:34278645..34281276-chr11:34285188..34287550,2	K562	blood:
3	chr11:34260780..34263020-chr11:34279926..34282268,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11032536	1.00[CEU][hapmap]
rs12289607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755170	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7949506	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr11:34273200-34284400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34273200-34284600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:34274000-34283400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:34274000-34284600	Weak transcription	NHEK	skin
5	chr11:34274000-34287400	Weak transcription	Primary T cells from cord blood	blood
6	chr11:34274000-34290400	Weak transcription	HSMMtube	muscle
7	chr11:34274200-34287600	Weak transcription	HSMM	muscle
8	chr11:34274200-34288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:34274600-34283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:34274600-34283400	Weak transcription	Psoas Muscle	Psoas
11	chr11:34274600-34285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:34274800-34284400	Weak transcription	Right Ventricle	heart
13	chr11:34275200-34283400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:34275800-34283200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:34276200-34284200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:34278200-34283200	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:34278400-34282800	Weak transcription	Fetal Lung	lung
18	chr11:34278400-34284000	Weak transcription	Fetal Heart	heart
19	chr11:34279200-34281800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:34279200-34282800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:34279400-34283400	Weak transcription	Left Ventricle	heart
22	chr11:34279600-34283400	Weak transcription	Right Atrium	heart
23	chr11:34280800-34281800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:34280800-34285800	Enhancers	Brain Germinal Matrix	brain
25	chr11:34281000-34283000	Weak transcription	HepG2	liver
26	chr11:34281000-34283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:34281200-34284400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:34281200-34284400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:34281200-34284600	Weak transcription	Rectal Mucosa Donor 31	rectum

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