Variant report

Variant	rs72932698
Chromosome Location	chr11:65836403-65836404
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	MTA3	chr11:65836315-65836763	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:65836229-65837957	GM12878	blood:	n/a	n/a
3	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
4	POLR2A	chr11:65836330-65837671	GM12878	blood:	n/a	n/a
5	STAT5A	chr11:65835763-65837684	GM12878	blood:	n/a	n/a
6	FOSL2	chr11:65836324-65837235	A549	lung:	n/a	n/a
7	NR2F2	chr11:65836400-65836854	K562	blood:	n/a	n/a
8	POLR2A	chr11:65836338-65838105	GM12891	blood:	n/a	n/a
9	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
10	POLR2A	chr11:65836351-65837681	K562	blood:	n/a	n/a
11	NRF1	chr11:65835625-65838067	SK-N-SH	brain:	n/a	chr11:65837813-65837824 chr11:65837810-65837824
12	POLR2A	chr11:65836387-65838109	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:65836311-65838120	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:65836256-65838137	GM12878	blood:	n/a	n/a
15	RELA	chr11:65836360-65837773	GM19099	blood:	n/a	n/a
16	PML	chr11:65836243-65837907	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:65836261-65837776	GM12892	blood:	n/a	n/a
18	ATF2	chr11:65836307-65836870	GM12878	blood:	n/a	n/a
19	TCF12	chr11:65835507-65837748	A549	lung:	n/a	n/a
20	POLR2A	chr11:65836276-65838073	K562	blood:	n/a	n/a
21	TBL1XR1	chr11:65836380-65837673	GM12878	blood:	n/a	n/a
22	MTA3	chr11:65835659-65837825	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:65836348-65838002	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:65836201-65838082	GM12892	blood:	n/a	n/a
25	CTCF	chr11:65836380-65836530	GM12873	blood:	n/a	n/a
26	NR2F2	chr11:65836282-65837119	K562	blood:	n/a	n/a
27	EBF1	chr11:65836396-65837272	GM12878	blood:	n/a	chr11:65836918-65836929
28	CTCF	chr11:65836280-65836430	HPF	lung:	n/a	n/a
29	CTCF	chr11:65834974-65838748	SK-N-SH	brain:	n/a	chr11:65838478-65838491 chr11:65838476-65838494 chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
30	POLR2A	chr11:65836220-65838365	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:65836287-65838010	GM12892	blood:	n/a	n/a
32	RUNX3	chr11:65836243-65837928	GM12878	blood:	n/a	n/a
33	ATF2	chr11:65836331-65836856	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65836273-65837700	HL-60	blood:	n/a	n/a
35	HDAC2	chr11:65836399-65836725	K562	blood:	n/a	n/a
36	RCOR1	chr11:65836394-65836702	K562	blood:	n/a	n/a
37	POLR2A	chr11:65836343-65838278	K562	blood:	n/a	n/a
38	NFIC	chr11:65836355-65836882	GM12878	blood:	n/a	n/a
39	MEF2A	chr11:65836250-65836778	K562	blood:	n/a	chr11:65836616-65836637 chr11:65836623-65836634 chr11:65836620-65836636 chr11:65836616-65836637
40	FOXM1	chr11:65836352-65837126	GM12878	blood:	n/a	n/a
41	SMC3	chr11:65836352-65837108	GM12878	blood:	n/a	n/a
42	EBF1	chr11:65836357-65837658	GM12878	blood:	n/a	chr11:65836918-65836929
43	CTCF	chr11:65836380-65836530	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
4	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
5	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
6	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
7	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
8	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
9	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
10	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
11	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
12	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
13	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
14	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175573	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000174996	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1211863	1.00[ASN][1000 genomes]
rs2452683	1.00[ASN][1000 genomes]
rs4930341	1.00[ASN][1000 genomes]
rs540943	1.00[ASN][1000 genomes]
rs57287207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57720880	1.00[ASN][1000 genomes]
rs59807152	1.00[ASN][1000 genomes]
rs59827057	1.00[ASN][1000 genomes]
rs60095752	1.00[ASN][1000 genomes]
rs60415795	1.00[ASN][1000 genomes]
rs6591205	1.00[ASN][1000 genomes]
rs6591206	1.00[ASN][1000 genomes]
rs7103495	1.00[ASN][1000 genomes]
rs72932629	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934632	1.00[ASN][1000 genomes]
rs72934636	1.00[ASN][1000 genomes]
rs72934666	1.00[ASN][1000 genomes]
rs72934668	1.00[ASN][1000 genomes]
rs72934673	1.00[ASN][1000 genomes]
rs7950327	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
4	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
6	chr11:65822200-65836600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:65828400-65836600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:65829400-65836800	Strong transcription	Dnd41	blood
10	chr11:65831800-65836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:65831800-65836800	Weak transcription	Small Intestine	intestine
12	chr11:65832400-65836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:65832800-65837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:65833000-65836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65833600-65836600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:65833800-65836600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:65833800-65836600	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:65833800-65836600	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr11:65833800-65836800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:65833800-65836800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:65833800-65836800	Genic enhancers	Liver	Liver
22	chr11:65834000-65836600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:65834000-65836600	Genic enhancers	HepG2	liver
24	chr11:65834000-65836800	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr11:65834000-65836800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:65834000-65836800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:65834200-65836600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:65834200-65836600	Genic enhancers	Brain Hippocampus Middle	brain
29	chr11:65834800-65836600	Genic enhancers	Adipose Nuclei	Adipose
30	chr11:65834800-65836600	Enhancers	Fetal Brain Male	brain
31	chr11:65835000-65836600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:65835000-65836600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:65835000-65837000	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr11:65835200-65836800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:65835200-65836800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:65835200-65836800	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr11:65835200-65837000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:65835400-65836600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:65835400-65836600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:65835400-65836600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:65835400-65836800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:65835400-65836800	Genic enhancers	Brain Substantia Nigra	brain
43	chr11:65835400-65837000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:65835400-65837000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:65835400-65837000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr11:65835400-65837000	Genic enhancers	Placenta	Placenta
47	chr11:65835400-65837000	Genic enhancers	Fetal Thymus	thymus
48	chr11:65835400-65837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:65835400-65837200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:65835600-65836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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