Variant report

Variant	rs556823
Chromosome Location	chr11:100738459-100738460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100732938..100736079-chr11:100738276..100741715,4	K562	blood:
2	chr11:100736156..100739603-chr11:100739743..100742359,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10750596	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224453	1.00[JPT][hapmap]
rs1145429	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943501	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513429	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529751	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs545547	1.00[JPT][hapmap]
rs550024	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590834	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614686	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623540	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629425	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629864	0.93[ASN][1000 genomes]
rs637127	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639926	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs658899	1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs661758	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667504	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682031	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683072	0.83[EUR][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:27 , 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	chr11:100728800-100740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:100728800-100741000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:100731400-100738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:100732000-100740600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:100733800-100746000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:100734200-100748400	Weak transcription	Left Ventricle	heart
10	chr11:100734400-100740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:100734400-100740200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:100734400-100747400	Weak transcription	Adipose Nuclei	Adipose
13	chr11:100734400-100747600	Weak transcription	Fetal Stomach	stomach
14	chr11:100734400-100747600	Weak transcription	Right Atrium	heart
15	chr11:100734600-100738800	Weak transcription	Fetal Lung	lung
16	chr11:100734600-100740600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:100734600-100741200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:100734800-100740200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:100734800-100743200	Weak transcription	HSMM	muscle
20	chr11:100735000-100740600	Weak transcription	Stomach Mucosa	stomach
21	chr11:100737200-100740000	Weak transcription	Fetal Heart	heart
22	chr11:100737600-100745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:100737800-100741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100738200-100739000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:100738200-100740000	Weak transcription	K562	blood
26	chr11:100738200-100744200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:100738400-100738600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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