Variant report

Variant	rs537086043
Chromosome Location	chr11:75139925-75139926
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:75138955-75139942	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75115551..75117959-chr11:75139316..75141039,2	K562	blood:
2	chr11:75139686..75143695-chr11:75147762..75151196,5	K562	blood:
3	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
4	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:

Variant related genes	Relation type
KLHL35	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
7	esv3354601	chr11:75138904-75143302	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:75126400-75140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:75129400-75141200	Weak transcription	Aorta	Aorta
4	chr11:75134000-75141000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:75134200-75141400	Weak transcription	HSMMtube	muscle
6	chr11:75134600-75140800	Weak transcription	Gastric	stomach
7	chr11:75135200-75140400	Weak transcription	Spleen	Spleen
8	chr11:75136400-75140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:75139000-75140000	Active TSS	Right Atrium	heart
10	chr11:75139000-75140000	Active TSS	Right Ventricle	heart
11	chr11:75139000-75140000	Active TSS	Stomach Smooth Muscle	stomach
12	chr11:75139000-75140600	Enhancers	Stomach Mucosa	stomach
13	chr11:75139200-75140000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:75139200-75140000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:75139200-75140000	Enhancers	Colon Smooth Muscle	Colon
16	chr11:75139200-75140000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr11:75139200-75140000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:75139200-75140000	Active TSS	Hela-S3	cervix
19	chr11:75139200-75140000	Active TSS	HepG2	liver
20	chr11:75139200-75140200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:75139200-75140200	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:75139200-75140400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:75139200-75140600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:75139200-75140800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:75139200-75141600	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr11:75139400-75140000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr11:75139400-75140000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:75139400-75140000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:75139400-75140000	Active TSS	Brain Hippocampus Middle	brain
30	chr11:75139400-75140000	Active TSS	Colonic Mucosa	Colon
31	chr11:75139400-75140000	Enhancers	Fetal Heart	heart
32	chr11:75139400-75140000	Active TSS	Ovary	ovary
33	chr11:75139400-75140000	Active TSS	Psoas Muscle	Psoas
34	chr11:75139400-75140000	Active TSS	Osteobl	bone
35	chr11:75139400-75140200	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:75139400-75140400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:75139400-75141000	ZNF genes & repeats	Lung	lung
38	chr11:75139400-75141200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:75139600-75140000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:75139600-75140400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr11:75139600-75141800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:75139800-75140000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:75139800-75140000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:75139800-75140000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:75139800-75140000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:75139800-75140000	Enhancers	Placenta	Placenta
47	chr11:75139800-75140000	Bivalent Enhancer	Small Intestine	intestine
48	chr11:75139800-75140000	Weak transcription	NH-A	brain
49	chr11:75139800-75140200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:75139800-75140200	Bivalent Enhancer	Fetal Kidney	kidney

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