Variant report

Variant	rs375057061
Chromosome Location	chr11:10471773-10471774
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	SIN3A	chr11:10471753-10472989	H1-hESC	embryonic stem cell:	n/a	chr11:10472336-10472347 chr11:10472611-10472624
2	MAX	chr11:10471558-10473023	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
3	POLR2A	chr11:10471611-10473084	NB4	blood:	n/a	n/a
4	POLR2A	chr11:10471580-10473030	GM12892	blood:	n/a	n/a
5	E2F6	chr11:10471559-10473053	H1-hESC	embryonic stem cell:	n/a	chr11:10472101-10472111 chr11:10472250-10472259 chr11:10472295-10472310
6	MAX	chr11:10471698-10471946	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:10471671-10472975	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:10471520-10472415	HL-60	blood:	n/a	n/a
9	USF1	chr11:10471619-10472070	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:10471577-10473019	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
11	CTBP2	chr11:10471474-10472989	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr11:10471588-10471908	NB4	blood:	n/a	n/a
13	MAX	chr11:10471592-10472826	NB4	blood:	n/a	chr11:10472180-10472190
14	POLR2A	chr11:10471644-10471873	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10471184..10472852-chr11:10561290..10564176,2	K562	blood:
3	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
4	chr11:10428535..10430173-chr11:10471249..10473167,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3370994	chr11:10471201-10473749	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3365533	chr11:10471771-10471815	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10457600-10471800	Weak transcription	NHDF-Ad	bronchial
2	chr11:10465600-10472000	Weak transcription	Right Atrium	heart
3	chr11:10467200-10471800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:10471000-10471800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:10471000-10471800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:10471000-10472000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:10471200-10471800	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:10471200-10471800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:10471200-10471800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:10471200-10472000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:10471200-10472200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:10471200-10472800	Active TSS	Brain Substantia Nigra	brain
13	chr11:10471400-10471800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:10471400-10471800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:10471400-10471800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:10471400-10471800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr11:10471400-10471800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:10471400-10471800	Bivalent Enhancer	Placenta	Placenta
19	chr11:10471400-10471800	Bivalent Enhancer	Thymus	Thymus
20	chr11:10471400-10472000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:10471400-10472000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:10471400-10472000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:10471400-10472200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:10471400-10472200	Enhancers	Lung	lung
25	chr11:10471400-10472200	Enhancers	Spleen	Spleen
26	chr11:10471400-10472200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:10471400-10473000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:10471400-10473600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:10471600-10471800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
30	chr11:10471600-10471800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:10471600-10471800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:10471600-10471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:10471600-10471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:10471600-10471800	Enhancers	Adipose Nuclei	Adipose
35	chr11:10471600-10471800	Enhancers	Liver	Liver
36	chr11:10471600-10471800	Active TSS	Brain Angular Gyrus	brain
37	chr11:10471600-10471800	Flanking Active TSS	Colonic Mucosa	Colon
38	chr11:10471600-10471800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr11:10471600-10471800	Enhancers	HMEC	breast
40	chr11:10471600-10471800	Enhancers	NHEK	skin
41	chr11:10471600-10472000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr11:10471600-10472000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:10471600-10472000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr11:10471600-10472000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:10471600-10472000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:10471600-10472000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:10471600-10472000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr11:10471600-10472000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:10471600-10472000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:10471600-10472000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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