Variant report

Variant	rs528744346
Chromosome Location	chr11:75139012-75139013
allele	C/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	POLR2A	chr11:75139004-75139093	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:75138997-75139891	HUVEC	blood vessel:	n/a	n/a
3	MXI1	chr11:75138955-75139942	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
2	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:

Variant related genes	Relation type
KLHL35	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149273	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
2	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:75126200-75139400	Weak transcription	Esophagus	oesophagus
5	chr11:75126400-75139400	Weak transcription	Ovary	ovary
6	chr11:75126400-75139600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:75126400-75140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:75126600-75139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:75129400-75141200	Weak transcription	Aorta	Aorta
10	chr11:75131200-75139400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:75134000-75139400	Weak transcription	Colonic Mucosa	Colon
12	chr11:75134000-75141000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:75134200-75139400	Weak transcription	Liver	Liver
14	chr11:75134200-75141400	Weak transcription	HSMMtube	muscle
15	chr11:75134600-75139200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:75134600-75139400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:75134600-75140800	Weak transcription	Gastric	stomach
18	chr11:75134800-75139200	Weak transcription	NHEK	skin
19	chr11:75135000-75139400	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:75135200-75139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:75135200-75139400	Weak transcription	Lung	lung
22	chr11:75135200-75140400	Weak transcription	Spleen	Spleen
23	chr11:75136200-75139400	Weak transcription	HSMM	muscle
24	chr11:75136400-75140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:75138200-75139200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:75138200-75139400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:75138600-75139400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr11:75138800-75139200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr11:75138800-75139200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr11:75138800-75139200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:75138800-75139200	Enhancers	Fetal Intestine Large	intestine
32	chr11:75138800-75139200	Flanking Active TSS	Fetal Lung	lung
33	chr11:75138800-75139200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr11:75138800-75139200	Enhancers	HUVEC	blood vessel
35	chr11:75139000-75139200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr11:75139000-75139200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:75139000-75139200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr11:75139000-75139200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:75139000-75139200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:75139000-75139200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
41	chr11:75139000-75139200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:75139000-75139200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:75139000-75139200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:75139000-75139200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:75139000-75139200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:75139000-75139200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:75139000-75139200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:75139000-75139200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:75139000-75139200	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:75139000-75139200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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