Variant report

Variant	rs680419
Chromosome Location	chr11:100736580-100736581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100731277..100733335-chr11:100735831..100738169,2	K562	blood:
2	chr11:100736156..100739603-chr11:100739743..100742359,3	MCF-7	breast:
3	chr11:100735806..100738064-chr11:100763432..100765862,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs480244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753301	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654257	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs655175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs659066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932488	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100722800-100746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100722800-100747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:100726400-100738400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:100728800-100740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:100728800-100741000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:100731400-100738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:100731600-100738200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:100732000-100740600	Weak transcription	Fetal Intestine Large	intestine
10	chr11:100732600-100737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:100732600-100737200	Weak transcription	NHEK	skin
12	chr11:100733800-100746000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:100734200-100736600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:100734200-100737200	Weak transcription	Placenta	Placenta
15	chr11:100734200-100748400	Weak transcription	Left Ventricle	heart
16	chr11:100734400-100740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:100734400-100740200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:100734400-100747400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:100734400-100747600	Weak transcription	Fetal Stomach	stomach
20	chr11:100734400-100747600	Weak transcription	Right Atrium	heart
21	chr11:100734600-100738800	Weak transcription	Fetal Lung	lung
22	chr11:100734600-100740600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:100734600-100741200	Weak transcription	Fetal Intestine Small	intestine
24	chr11:100734800-100736600	Weak transcription	Fetal Heart	heart
25	chr11:100734800-100736800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:100734800-100740200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:100734800-100743200	Weak transcription	HSMM	muscle
28	chr11:100735000-100736600	Enhancers	K562	blood
29	chr11:100735000-100740600	Weak transcription	Stomach Mucosa	stomach
30	chr11:100735400-100736800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:100736200-100737600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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