Variant report

Variant	rs11838544
Chromosome Location	chr13:111270968-111270969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111270726..111272560-chr13:111277400..111279622,2	MCF-7	breast:
2	chr13:111270127..111273388-chr13:111363315..111367711,4	MCF-7	breast:
3	chr13:111268040..111269954-chr13:111270156..111273298,3	K562	blood:
4	chr13:111270148..111271814-chr13:111272109..111273731,2	K562	blood:
5	chr13:111265984..111270011-chr13:111270710..111274775,8	MCF-7	breast:
6	chr13:111266965..111271727-chr13:111364973..111369025,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213995	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10467308	1.00[ASN][1000 genomes]
rs11838563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427561	1.00[ASN][1000 genomes]
rs12428009	1.00[ASN][1000 genomes]
rs55949519	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57658160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57696811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57813755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59764598	1.00[EUR][1000 genomes]
rs60690859	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718886	1.00[ASN][1000 genomes]
rs73629903	1.00[ASN][1000 genomes]
rs73629967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
4	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
9	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
11	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1038089	chr13:111229517-111274823	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
15	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv525124	chr13:111261267-111280002	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111269000-111272200	Enhancers	Pancreas	Pancrea
2	chr13:111269000-111277000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:111269000-111277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111269000-111287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:111269200-111271000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr13:111269200-111271000	Enhancers	Fetal Stomach	stomach
7	chr13:111269200-111271400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:111269200-111271400	Enhancers	Stomach Mucosa	stomach
9	chr13:111269200-111274600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:111269400-111271200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:111269400-111271200	Enhancers	Brain Anterior Caudate	brain
12	chr13:111269400-111271400	Enhancers	Fetal Intestine Small	intestine
13	chr13:111269400-111271400	Enhancers	Left Ventricle	heart
14	chr13:111269400-111271400	Enhancers	Psoas Muscle	Psoas
15	chr13:111269400-111271600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr13:111269400-111271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:111269400-111271600	Enhancers	Right Ventricle	heart
18	chr13:111269400-111271800	Enhancers	Rectal Smooth Muscle	rectum
19	chr13:111269400-111272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:111269400-111274600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:111269400-111274600	Weak transcription	Aorta	Aorta
22	chr13:111269400-111274800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:111269400-111275000	Weak transcription	Esophagus	oesophagus
24	chr13:111269400-111275000	Weak transcription	Gastric	stomach
25	chr13:111269400-111275000	Weak transcription	Spleen	Spleen
26	chr13:111269400-111275000	Weak transcription	A549	lung
27	chr13:111269400-111275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:111269400-111286600	Weak transcription	Fetal Brain Male	brain
29	chr13:111269400-111287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:111269600-111271000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:111269600-111271400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:111269600-111274600	Weak transcription	Primary B cells from cord blood	blood
33	chr13:111269600-111274600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr13:111269600-111274800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr13:111269600-111275000	Weak transcription	Fetal Brain Female	brain
36	chr13:111269600-111275200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:111269600-111277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:111269600-111279800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:111269800-111271000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:111269800-111271600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr13:111269800-111274400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr13:111270000-111271000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:111270000-111271000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:111270000-111271000	Enhancers	Brain Cingulate Gyrus	brain
45	chr13:111270000-111271600	Enhancers	Colon Smooth Muscle	Colon
46	chr13:111270000-111274200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:111270000-111274600	Weak transcription	Thymus	Thymus
48	chr13:111270200-111271200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:111270200-111271200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr13:111270200-111271400	Enhancers	Lung	lung

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