Variant report

Variant	rs11229552
Chromosome Location	chr11:58400914-58400915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58345996..58348302-chr11:58399595..58402081,2	MCF-7	breast:
2	chr11:58399679..58402149-chr11:58838160..58840024,2	K562	blood:

Variant related genes	Relation type
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11229438	0.91[ASN][1000 genomes]
rs11229439	0.88[ASN][1000 genomes]
rs11229479	0.91[ASN][1000 genomes]
rs11229532	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11229537	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11229544	0.97[ASN][1000 genomes]
rs11541682	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12361887	0.91[ASN][1000 genomes]
rs12365551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17489568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938601	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1944051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186381	0.84[EUR][1000 genomes]
rs2298607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60483579	0.82[ASN][1000 genomes]
rs60767173	1.00[ASN][1000 genomes]
rs60998298	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7112350	0.94[ASN][1000 genomes]
rs73470773	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73470778	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7481388	0.97[ASN][1000 genomes]
rs7482383	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7484263	0.92[ASN][1000 genomes]
rs7945889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][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	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58392000-58406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:58392400-58402000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:58393000-58407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:58393200-58407000	Weak transcription	Thymus	Thymus
5	chr11:58393800-58401000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:58393800-58406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:58393800-58407800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:58394000-58407200	Weak transcription	Left Ventricle	heart
9	chr11:58394000-58407800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:58394600-58401600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:58394600-58407200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:58394600-58407200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:58394800-58407000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:58394800-58408200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:58395200-58402000	Weak transcription	GM12878-XiMat	blood
16	chr11:58395200-58403600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:58395200-58407000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:58395200-58407000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:58395600-58407200	Weak transcription	Dnd41	blood
20	chr11:58395800-58407800	Weak transcription	Fetal Thymus	thymus
21	chr11:58396200-58407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:58400000-58401000	Enhancers	Ovary	ovary
23	chr11:58400000-58403600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:58400000-58403600	Weak transcription	Pancreas	Pancrea
25	chr11:58400600-58401000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:58400600-58401200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:58400800-58401000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:58400800-58401000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:58400800-58401200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:58400800-58401400	Enhancers	H9 Cell Line	embryonic stem cell

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