Variant report

Variant	rs11234418
Chromosome Location	chr11:85521426-85521427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85393932..85396795-chr11:85520364..85521949,2	MCF-7	breast:
2	chr11:85374332..85377604-chr11:85518032..85524824,7	MCF-7	breast:
3	chr11:85520346..85521861-chr11:85552981..85555359,2	MCF-7	breast:
4	chr11:85428619..85430275-chr11:85519411..85522192,2	MCF-7	breast:
5	chr11:85520588..85523121-chr11:85904931..85907542,2	MCF-7	breast:
6	chr11:85519803..85521941-chr11:85564201..85565920,2	MCF-7	breast:
7	chr11:85397382..85399853-chr11:85520148..85522002,2	MCF-7	breast:
8	chr11:85411666..85413624-chr11:85519059..85521959,2	MCF-7	breast:
9	chr11:85467606..85469318-chr11:85519137..85521764,2	MCF-7	breast:
10	chr11:85520681..85523600-chr11:85778386..85780657,2	MCF-7	breast:
11	chr11:85371938..85377336-chr11:85519037..85522510,5	MCF-7	breast:
12	chr11:85520966..85522059-chr11:85536950..85537673,3	MCF-7	breast:
13	chr11:85520161..85523649-chr11:85564385..85567428,4	MCF-7	breast:
14	chr11:85520628..85521546-chr11:85565642..85566152,2	MCF-7	breast:
15	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction
ENSG00000215504	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000254502	Chromatin interaction
ENSG00000150676	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10501597	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898409	0.85[ASN][1000 genomes]
rs11234386	1.00[EUR][1000 genomes]
rs11234387	1.00[EUR][1000 genomes]
rs11234388	1.00[EUR][1000 genomes]
rs11234390	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234391	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234393	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234395	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234397	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234404	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234408	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234409	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12286030	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286043	0.93[ASN][1000 genomes]
rs12286206	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12365370	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17148355	1.00[EUR][1000 genomes]
rs17811120	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2044393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276018	1.00[EUR][1000 genomes]
rs2304343	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3891432	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85520000-85521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:85520000-85521800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:85520000-85522400	Active TSS	Stomach Mucosa	stomach
4	chr11:85520200-85522000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:85520200-85522000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:85520200-85522000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr11:85520200-85522200	Active TSS	Gastric	stomach
8	chr11:85520400-85521600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:85520400-85521600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:85520400-85521600	Weak transcription	Aorta	Aorta
11	chr11:85520400-85521600	Active TSS	Stomach Smooth Muscle	stomach
12	chr11:85520400-85521600	Enhancers	Spleen	Spleen
13	chr11:85520400-85522000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr11:85520400-85522600	Enhancers	Fetal Brain Male	brain
15	chr11:85520400-85522800	Bivalent/Poised TSS	Thymus	Thymus
16	chr11:85520600-85521600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:85520600-85522000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:85520600-85522000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr11:85520600-85522000	Flanking Active TSS	HSMM	muscle
20	chr11:85520600-85522600	Active TSS	NHDF-Ad	bronchial
21	chr11:85520600-85523600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:85520800-85521600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:85520800-85521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:85520800-85521600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr11:85520800-85521600	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr11:85520800-85521800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:85520800-85522000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr11:85520800-85522000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:85520800-85522000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr11:85520800-85522000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr11:85520800-85522000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:85520800-85522000	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:85520800-85522000	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr11:85520800-85522200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:85520800-85522600	Active TSS	Esophagus	oesophagus
36	chr11:85520800-85522800	Active TSS	Fetal Kidney	kidney
37	chr11:85520800-85523000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:85521000-85521600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:85521000-85521600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr11:85521000-85521600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr11:85521000-85521600	Active TSS	Liver	Liver
42	chr11:85521000-85521600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr11:85521000-85521600	Flanking Active TSS	Fetal Stomach	stomach
44	chr11:85521000-85521600	Enhancers	Pancreas	Pancrea
45	chr11:85521000-85521600	Enhancers	Psoas Muscle	Psoas
46	chr11:85521000-85521600	Enhancers	Hela-S3	cervix
47	chr11:85521000-85521800	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr11:85521000-85521800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr11:85521000-85522000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr11:85521000-85522000	Flanking Active TSS	Lung	lung

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