Variant report

Variant	rs7944670
Chromosome Location	chr11:72880613-72880614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72874691..72878123-chr11:72880193..72884667,5	K562	blood:
2	chr11:72852106..72853764-chr11:72879372..72881639,3	MCF-7	breast:
3	chr11:72879570..72884410-chr11:72886325..72888856,4	K562	blood:
4	chr11:72879197..72882028-chr11:72901333..72903011,2	K562	blood:
5	chr11:72853282..72855493-chr11:72880501..72882111,2	K562	blood:
6	chr11:72531460..72534697-chr11:72878571..72880744,3	MCF-7	breast:
7	chr11:72879011..72882115-chr11:72882510..72884809,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000256568	Chromatin interaction
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1791051	0.86[AMR][1000 genomes]
rs56927892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58895180	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592511	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105289	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72875400-72884800	Weak transcription	Adipose Nuclei	Adipose
2	chr11:72876400-72882600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:72876800-72886800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:72878200-72881800	Enhancers	Fetal Heart	heart
5	chr11:72878600-72881400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:72878800-72883000	Enhancers	Spleen	Spleen
7	chr11:72879000-72887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:72879200-72886800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:72879400-72883800	Weak transcription	Ovary	ovary
10	chr11:72879400-72884000	Weak transcription	Liver	Liver
11	chr11:72879400-72884800	Weak transcription	HUVEC	blood vessel
12	chr11:72879600-72881000	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:72879800-72880800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:72879800-72881000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:72879800-72881000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:72879800-72882800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:72880000-72880800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:72880000-72881000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:72880000-72881200	Enhancers	HSMMtube	muscle
20	chr11:72880000-72881400	Enhancers	Right Ventricle	heart
21	chr11:72880000-72881600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:72880000-72881600	Enhancers	Placenta	Placenta
23	chr11:72880000-72882200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:72880000-72882200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:72880000-72882600	Enhancers	Left Ventricle	heart
26	chr11:72880200-72880800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:72880200-72880800	Enhancers	Fetal Muscle Leg	muscle
28	chr11:72880200-72880800	Weak transcription	Lung	lung
29	chr11:72880200-72881000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:72880200-72881200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:72880200-72881600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:72880400-72881400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:72880400-72885400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:72880400-72889800	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:72880600-72880800	Enhancers	Psoas Muscle	Psoas
36	chr11:72880600-72880800	Flanking Active TSS	HepG2	liver
37	chr11:72880600-72881400	Enhancers	Right Atrium	heart
38	chr11:72880600-72889600	Enhancers	GM12878-XiMat	blood

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