Variant report

Variant	rs57712040
Chromosome Location	chr11:72454043-72454044
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72437210..72438742-chr11:72452236..72454044,2	K562	blood:
2	chr11:72450505..72454170-chr11:72508930..72511524,3	MCF-7	breast:
3	chr11:72454001..72456109-chr11:72470086..72472095,2	MCF-7	breast:
4	chr11:72451428..72454228-chr11:72483935..72486339,2	K562	blood:
5	chr11:72451471..72458825-chr11:72459585..72465738,9	MCF-7	breast:
6	chr11:72452949..72455734-chr11:72495998..72498829,2	MCF-7	breast:
7	chr11:72451593..72454770-chr11:72503642..72506331,3	MCF-7	breast:
8	chr11:72436615..72438742-chr11:72452115..72454044,3	K562	blood:
9	chr11:72453064..72455584-chr11:72523759..72526805,3	K562	blood:
10	chr11:72445144..72447401-chr11:72452350..72454183,2	K562	blood:
11	chr11:72450021..72454866-chr11:72522359..72525675,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12287469	1.00[EUR][1000 genomes]
rs12419767	1.00[EUR][1000 genomes]
rs519201	1.00[EUR][1000 genomes]
rs55816648	1.00[EUR][1000 genomes]
rs56251316	1.00[EUR][1000 genomes]
rs58196942	0.86[AFR][1000 genomes]
rs58756839	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59308438	0.86[AFR][1000 genomes]
rs59700555	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59931164	0.83[AFR][1000 genomes]
rs60057195	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61083756	1.00[EUR][1000 genomes]
rs615703	1.00[EUR][1000 genomes]
rs61661445	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73543236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72446200-72455400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:72446600-72454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:72446600-72458000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr11:72446800-72456000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr11:72446800-72456200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr11:72446800-72459200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:72447400-72459000	Enhancers	Brain Hippocampus Middle	brain
8	chr11:72447600-72454200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:72447600-72454400	Enhancers	Brain Substantia Nigra	brain
10	chr11:72448200-72456400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:72448400-72457400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:72448600-72454400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:72448600-72461000	Weak transcription	Dnd41	blood
15	chr11:72449200-72456000	Enhancers	Spleen	Spleen
16	chr11:72449400-72456200	Enhancers	Fetal Thymus	thymus
17	chr11:72449600-72462200	Weak transcription	HSMM	muscle
18	chr11:72449800-72454600	Weak transcription	Fetal Brain Male	brain
19	chr11:72449800-72462200	Weak transcription	Gastric	stomach
20	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
21	chr11:72450200-72455200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:72450400-72455400	Enhancers	Liver	Liver
23	chr11:72450400-72456400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:72450600-72456200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:72451000-72454600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:72451000-72456000	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:72451000-72461000	Weak transcription	Primary T cells from cord blood	blood
28	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
29	chr11:72451400-72455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:72451400-72456800	Weak transcription	NHDF-Ad	bronchial
31	chr11:72451400-72458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:72451800-72454200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:72451800-72455200	Enhancers	Fetal Muscle Trunk	muscle
34	chr11:72452000-72455200	Enhancers	Colonic Mucosa	Colon
35	chr11:72452200-72456200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:72452200-72457200	Enhancers	Lung	lung
37	chr11:72452400-72454200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:72452400-72456000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:72452400-72456200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:72452400-72456800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:72452400-72461000	Weak transcription	Pancreas	Pancrea
42	chr11:72452400-72461400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:72452600-72454200	Enhancers	Fetal Heart	heart
44	chr11:72452600-72454400	Enhancers	Rectal Smooth Muscle	rectum
45	chr11:72452800-72454600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:72452800-72454600	Weak transcription	Thymus	Thymus
47	chr11:72452800-72456000	Enhancers	Colon Smooth Muscle	Colon
48	chr11:72453000-72456000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:72453000-72458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:72453000-72459000	Enhancers	K562	blood

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