Variant report

Variant	rs7124331
Chromosome Location	chr11:46626967-46626968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46626528..46628093-chr11:46638381..46640955,2	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11820768	1.00[MEX][hapmap]
rs12576204	1.00[MEX][hapmap]
rs3136494	1.00[MEX][hapmap]
rs35569076	1.00[MEX][hapmap]
rs4400757	1.00[MEX][hapmap]
rs7113453	0.88[AFR][1000 genomes]
rs7924928	0.98[MKK][hapmap]
rs7928869	0.93[MKK][hapmap]

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46615600-46636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:46615800-46637000	Weak transcription	Esophagus	oesophagus
3	chr11:46615800-46638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:46616000-46637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:46616000-46638400	Weak transcription	Aorta	Aorta
6	chr11:46616200-46627000	Weak transcription	Ovary	ovary
7	chr11:46616200-46633000	Weak transcription	Placenta	Placenta
8	chr11:46616200-46633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:46616200-46633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:46616200-46633400	Weak transcription	Fetal Brain Female	brain
11	chr11:46616200-46633400	Weak transcription	NHLF	lung
12	chr11:46616200-46633600	Weak transcription	Brain Germinal Matrix	brain
13	chr11:46616200-46634800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:46616200-46637000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:46616200-46637200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:46616200-46637200	Weak transcription	HMEC	breast
17	chr11:46616200-46637400	Weak transcription	Right Ventricle	heart
18	chr11:46616200-46637400	Weak transcription	Thymus	Thymus
19	chr11:46616200-46638000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:46616200-46638000	Weak transcription	Right Atrium	heart
21	chr11:46616200-46638400	Weak transcription	Spleen	Spleen
22	chr11:46616400-46628000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:46616400-46633000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:46616400-46633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:46616400-46633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:46616400-46633400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:46616400-46633400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:46616400-46637000	Weak transcription	A549	lung
29	chr11:46616400-46637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:46616400-46637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:46616400-46637600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:46616400-46637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:46616400-46638000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:46616600-46628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46616600-46633000	Weak transcription	Hela-S3	cervix
36	chr11:46619200-46638000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:46619400-46632800	Weak transcription	Stomach Mucosa	stomach
38	chr11:46619400-46633600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:46619400-46638000	Weak transcription	Small Intestine	intestine
40	chr11:46619600-46633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:46619600-46637200	Weak transcription	HSMM	muscle
42	chr11:46619800-46637400	Weak transcription	NH-A	brain
43	chr11:46622800-46637200	Weak transcription	NHDF-Ad	bronchial
44	chr11:46623000-46637200	Weak transcription	Osteobl	bone
45	chr11:46623600-46633200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:46623800-46629200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:46623800-46633400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:46623800-46637800	Weak transcription	Fetal Brain Male	brain
49	chr11:46625400-46628000	Weak transcription	HepG2	liver
50	chr11:46625400-46631000	Weak transcription	Fetal Intestine Small	intestine

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