Variant report

Variant	rs12801715
Chromosome Location	chr11:100682388-100682389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100558223..100560082-chr11:100680729..100682747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165895	Chromatin interaction
ENSG00000248027	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10791427	0.92[ASN][1000 genomes]
rs11224461	0.97[ASN][1000 genomes]
rs11224474	0.92[ASN][1000 genomes]
rs11823529	0.85[ASN][1000 genomes]
rs12417529	0.93[ASN][1000 genomes]
rs12419467	0.92[ASN][1000 genomes]
rs12419937	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17651772	0.85[ASN][1000 genomes]
rs35472062	0.84[ASN][1000 genomes]
rs35473622	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3858410	0.88[ASN][1000 genomes]
rs3858412	0.85[ASN][1000 genomes]
rs4754701	0.94[ASN][1000 genomes]
rs536090	0.83[ASN][1000 genomes]
rs582409	0.83[ASN][1000 genomes]
rs588615	0.80[ASN][1000 genomes]
rs595030	0.82[ASN][1000 genomes]
rs600906	0.83[ASN][1000 genomes]
rs607890	0.83[ASN][1000 genomes]
rs612090	0.82[ASN][1000 genomes]
rs614615	0.85[ASN][1000 genomes]
rs626558	0.82[ASN][1000 genomes]
rs660736	0.82[ASN][1000 genomes]
rs662449	0.84[ASN][1000 genomes]
rs685611	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100660400-100683600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:100667200-100685200	Weak transcription	Primary B cells from cord blood	blood
4	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
5	chr11:100673600-100687600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:100680000-100684000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:100680200-100683400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:100680200-100683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:100680200-100684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:100680200-100686200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:100680400-100683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:100680400-100687400	Weak transcription	Fetal Heart	heart
13	chr11:100680600-100683400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:100680600-100683400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:100680600-100683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:100680600-100687400	Weak transcription	Left Ventricle	heart
17	chr11:100680600-100689000	Weak transcription	Psoas Muscle	Psoas
18	chr11:100680600-100691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:100680800-100687400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:100681000-100685800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:100681200-100682600	Weak transcription	Fetal Intestine Small	intestine
23	chr11:100681200-100684200	Enhancers	Liver	Liver
24	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
25	chr11:100681400-100683600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:100681400-100701000	Weak transcription	HSMM	muscle
27	chr11:100681800-100685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:100682000-100687400	Weak transcription	NHEK	skin
29	chr11:100682000-100688400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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