Variant report

Variant	rs536231485
Chromosome Location	chr11:75525193-75525194
allele	A/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	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
2	GATA3	chr11:75524520-75525238	SK-N-SH	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
3	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
4	MTA3	chr11:75524090-75525290	GM12878	blood:	n/a	n/a
5	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a
6	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
7	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
8	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a
10	JUN	chr11:75524100-75528948	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75526209-75526218 chr11:75528353-75528362 chr11:75524810-75524817 chr11:75524306-75524318 chr11:75524807-75524814 chr11:75526420-75526429 chr11:75524806-75524815 chr11:75524805-75524817
11	POLR2A	chr11:75524447-75526590	HUVEC	blood vessel:	n/a	n/a
12	HCFC1	chr11:75524194-75528712	Hela-S3	cervix:	n/a	n/a
13	GATA3	chr11:75524453-75525283	SK-N-SH	brain:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
14	GATA2	chr11:75524222-75526005	HUVEC	blood vessel:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
15	POLR2A	chr11:75525163-75525930	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:75524533-75525194	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:75524463-75525228	HUVEC	blood vessel:	n/a	n/a
18	GTF3C2	chr11:75524537-75525340	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75512671..75516260-chr11:75524397..75526274,3	MCF-7	breast:
2	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
3	chr11:75114198..75116876-chr11:75524077..75526236,2	K562	blood:
4	chr11:75507903..75509753-chr11:75522846..75525543,2	MCF-7	breast:
5	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
6	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
7	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
8	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
9	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
10	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	TF binding region
ENSG00000207445	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000254814	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	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
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75509000-75525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75513000-75525200	Weak transcription	Fetal Intestine Large	intestine
3	chr11:75521400-75525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:75522000-75525200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:75522400-75525400	Weak transcription	Spleen	Spleen
6	chr11:75522800-75525200	Weak transcription	Liver	Liver
7	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:75523600-75525200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:75523600-75525200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:75523600-75525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:75523600-75525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:75523600-75525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:75523600-75525400	Flanking Active TSS	HepG2	liver
14	chr11:75523800-75525200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:75523800-75525200	Enhancers	Placenta	Placenta
16	chr11:75523800-75525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:75524000-75525200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:75524000-75525200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:75524000-75525400	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:75524200-75525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
22	chr11:75524400-75525200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:75524400-75525200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:75524600-75525200	Enhancers	Primary T cells from cord blood	blood
26	chr11:75524600-75525200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:75524600-75525200	Enhancers	Fetal Intestine Small	intestine
28	chr11:75524600-75525200	Enhancers	Dnd41	blood
29	chr11:75524600-75525200	Enhancers	NH-A	brain
30	chr11:75524600-75525200	Enhancers	Osteobl	bone
31	chr11:75524600-75525400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:75524800-75525200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:75524800-75525200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:75524800-75525200	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:75524800-75525200	Enhancers	Primary B cells from cord blood	blood
36	chr11:75524800-75525200	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:75524800-75525200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:75524800-75525200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:75524800-75525200	Enhancers	Fetal Kidney	kidney
40	chr11:75524800-75525200	Flanking Active TSS	A549	lung
41	chr11:75524800-75525200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr11:75524800-75525200	Enhancers	NHLF	lung
43	chr11:75524800-75525400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:75524800-75525400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:75524800-75525400	Enhancers	Fetal Thymus	thymus
46	chr11:75524800-75525400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:75524800-75525600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:75524800-75525600	Flanking Active TSS	Hela-S3	cervix
49	chr11:75525000-75525200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:75525000-75525200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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