Variant report

Variant	rs11893310
Chromosome Location	chr2:172238442-172238443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172238421..172241638-chr2:172288610..172290527,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11674632	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11677795	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11679835	0.86[EUR][1000 genomes]
rs11691073	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11694321	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11902733	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12105780	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12989392	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12989938	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13000846	0.80[EUR][1000 genomes]
rs13002817	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13003130	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13005615	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13023973	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031794	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2111459	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2356707	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36140780	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67077741	0.88[AMR][1000 genomes];0.95[EUR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172222200-172289600	Weak transcription	Gastric	stomach
3	chr2:172222400-172240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:172223000-172242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:172229400-172246800	Weak transcription	NH-A	brain
6	chr2:172231400-172248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:172231800-172239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:172231800-172240800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:172231800-172243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:172231800-172248200	Weak transcription	Esophagus	oesophagus
11	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:172232200-172238800	Weak transcription	Liver	Liver
13	chr2:172232200-172242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:172232600-172242000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:172232800-172241800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:172235400-172244600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:172235600-172243400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:172237800-172244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
21	chr2:172238200-172243400	Weak transcription	Primary B cells from cord blood	blood

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