Variant report

Variant	rs4930388
Chromosome Location	chr11:66472274-66472275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66471934..66475456-chr11:66489275..66492575,3	K562	blood:
2	chr11:66470545..66473342-chr11:66475887..66477965,2	MCF-7	breast:
3	chr11:66470858..66473364-chr11:66476236..66478567,4	K562	blood:
4	chr11:66470661..66472878-chr11:66474516..66476317,2	MCF-7	breast:
5	chr11:66463755..66465983-chr11:66469374..66472774,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11227537	1.00[AMR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes]
rs1791677	0.86[AFR][1000 genomes]
rs45620032	1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes]
rs548344	1.00[AMR][1000 genomes]
rs580850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670900	1.00[AMR][1000 genomes]
rs71457730	1.00[AMR][1000 genomes]
rs908693	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
2	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:66452800-66473800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:66456400-66494600	Weak transcription	Right Atrium	heart
7	chr11:66462600-66484000	Weak transcription	Brain Substantia Nigra	brain
8	chr11:66462800-66481000	Weak transcription	HMEC	breast
9	chr11:66462800-66484400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66463000-66485000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:66465600-66487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:66465800-66480200	Weak transcription	Fetal Brain Male	brain
13	chr11:66467200-66480200	Weak transcription	Ovary	ovary
14	chr11:66467400-66485200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:66468000-66480400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:66468200-66474600	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:66468400-66484600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:66468800-66472400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:66468800-66481400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:66468800-66481800	Weak transcription	Spleen	Spleen
21	chr11:66468800-66487800	Strong transcription	Fetal Brain Female	brain
22	chr11:66469200-66477800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:66469400-66472600	Weak transcription	Fetal Intestine Small	intestine
24	chr11:66469400-66473000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66469400-66481200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:66469600-66473600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:66469600-66474400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:66469600-66474600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:66469600-66486800	Weak transcription	A549	lung
30	chr11:66469800-66474600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:66469800-66484800	Weak transcription	HepG2	liver
32	chr11:66470200-66472800	Weak transcription	Hela-S3	cervix
33	chr11:66470200-66477200	Weak transcription	K562	blood
34	chr11:66471400-66477200	Strong transcription	Liver	Liver
35	chr11:66471600-66476600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:66471600-66489200	Strong transcription	Brain Germinal Matrix	brain
37	chr11:66471800-66472400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:66471800-66472400	Enhancers	NHEK	skin
39	chr11:66471800-66472800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:66471800-66473400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:66471800-66473400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:66471800-66476200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr11:66471800-66476600	Strong transcription	Brain Anterior Caudate	brain
44	chr11:66471800-66483200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:66471800-66483400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:66471800-66483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:66471800-66483600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:66471800-66485000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr11:66472000-66472600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:66472000-66473200	Strong transcription	Fetal Stomach	stomach

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