Variant report

Variant	rs572719580
Chromosome Location	chr2:111436979-111436980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:111436940-111437090	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr2:111436970-111437079	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr2:111436962-111437049	GM10248	blood:	n/a	n/a
4	EP300	chr2:111434930-111437363	K562	blood:	n/a	chr2:111436737-111436746
5	CTCF	chr2:111436969-111437097	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr2:111436953-111437652	K562	blood:	n/a	chr2:111437521-111437531
7	RAD21	chr2:111436897-111437141	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr2:111436864-111437172	GM12878	blood:	n/a	n/a
9	HMGN3	chr2:111436941-111437160	K562	blood:	n/a	n/a
10	CTCF	chr2:111436940-111437090	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr2:111435052-111437318	K562	blood:	n/a	chr2:111435181-111435189
12	CTCF	chr2:111436920-111437070	HMEC	breast:	n/a	n/a
13	CCNT2	chr2:111436711-111437205	K562	blood:	n/a	n/a
14	BACH1	chr2:111436880-111437064	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr2:111436319-111437309	K562	blood:	n/a	n/a
16	POLR2A	chr2:111436775-111437322	K562	blood:	n/a	n/a
17	CTCF	chr2:111436844-111437472	K562	blood:	n/a	n/a
18	TAL1	chr2:111435429-111437712	K562	blood:	n/a	n/a
19	POLR2A	chr2:111434634-111437160	GM12891	blood:	n/a	n/a
20	CUX1	chr2:111436287-111436982	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:111435366-111437326	K562	blood:	n/a	n/a
22	HEY1	chr2:111435331-111437277	K562	blood:	n/a	n/a
23	POLR2A	chr2:111435358-111437484	K562	blood:	n/a	n/a
24	CTCF	chr2:111436960-111437110	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr2:111436940-111437090	AG09319	gingival:	n/a	n/a
26	POLR2A	chr2:111435163-111437997	K562	blood:	n/a	n/a
27	CTCF	chr2:111436880-111437030	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr2:111436960-111437110	BJ	skin:	n/a	n/a
29	ZNF143	chr2:111435581-111437103	GM12878	blood:	n/a	chr2:111436660-111436678 chr2:111436656-111436671 chr2:111436154-111436172
30	TEAD4	chr2:111436792-111437317	K562	blood:	n/a	n/a
31	CTCF	chr2:111436850-111437217	IMR90	lung:	n/a	n/a
32	CTCF	chr2:111436940-111437090	HCPEpiC	choroid plexus:	n/a	n/a
33	MAFF	chr2:111436242-111437274	K562	blood:	n/a	n/a
34	CTCF	chr2:111436933-111437086	K562	blood:	n/a	n/a
35	CEBPB	chr2:111436920-111437319	K562	blood:	n/a	n/a
36	TCF7L2	chr2:111436934-111437329	HEK293	kidney:	n/a	n/a
37	CTCF	chr2:111436948-111437128	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr2:111436971-111437071	GM13976	blood:	n/a	n/a
39	TBL1XR1	chr2:111434583-111437480	K562	blood:	n/a	n/a
40	HEY1	chr2:111436718-111437215	K562	blood:	n/a	n/a
41	CTCF	chr2:111436960-111437110	HCPEpiC	choroid plexus:	n/a	n/a
42	ZNF143	chr2:111436509-111437132	K562	blood:	n/a	chr2:111436660-111436678 chr2:111436656-111436671
43	GTF2F1	chr2:111436893-111437207	K562	blood:	n/a	n/a
44	CTCF	chr2:111436920-111437070	GM06990	blood:	n/a	n/a
45	CTCF	chr2:111436940-111437090	GM12872	blood:	n/a	n/a
46	POLR2A	chr2:111434790-111437321	PBDE	blood:	n/a	n/a
47	SMC3	chr2:111436387-111437049	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:111435323-111437046	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:111435349-111437091	GM18526	blood:	n/a	n/a
50	ARID3A	chr2:111436844-111437360	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111409847..111412405-chr2:111435701..111437237,2	K562	blood:
2	chr2:111435750..111438683-chr2:111457735..111460578,3	K562	blood:
3	chr2:111435925..111437576-chr2:111510345..111513033,2	MCF-7	breast:

No data

Variant related genes	Relation type
BUB1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv2751813	chr2:110834561-111447446	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv994221	chr2:110847086-111453103	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv436279	chr2:110850697-111453448	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv435724	chr2:110851622-111453839	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3502444	chr2:110852415-111453435	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3460817	chr2:110852627-111453192	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv3502445	chr2:110852643-111453216	Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3460819	chr2:110852686-111453177	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3460820	chr2:110852686-111453177	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3502446	chr2:110852704-111453148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	esv3502447	chr2:110852704-111453148	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv874836	chr2:110983050-111463391	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv874837	chr2:111367727-111463391	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv582696	chr2:111367727-111469138	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv582697	chr2:111386233-111451816	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
18	nsv582698	chr2:111387676-111452539	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv963697	chr2:111436714-111437992	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111434200-111437200	Active TSS	K562	blood
2	chr2:111434200-111437200	Active TSS	NHLF	lung
3	chr2:111434600-111437000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:111434600-111437200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:111435200-111437000	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:111435200-111437200	Active TSS	Aorta	Aorta
7	chr2:111435400-111437200	Active TSS	Ovary	ovary
8	chr2:111435400-111437400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr2:111435800-111437000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:111436000-111437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:111436000-111437200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:111436200-111437000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:111436200-111437000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:111436200-111437000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:111436200-111437000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:111436200-111437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:111436400-111437000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:111436400-111437000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:111436400-111437000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:111436400-111437000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:111436400-111437000	Flanking Active TSS	Fetal Thymus	thymus
22	chr2:111436400-111437400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:111436400-111437600	Flanking Active TSS	Dnd41	blood
24	chr2:111436400-111440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:111436600-111437000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:111436600-111437000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:111436600-111437000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:111436600-111437000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr2:111436600-111437000	Enhancers	Brain Substantia Nigra	brain
30	chr2:111436600-111437000	Weak transcription	Esophagus	oesophagus
31	chr2:111436600-111437000	Flanking Active TSS	Fetal Kidney	kidney
32	chr2:111436600-111437000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr2:111436600-111437000	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:111436600-111437000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:111436600-111437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:111436600-111437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:111436600-111437400	Weak transcription	Lung	lung
38	chr2:111436600-111437600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:111436600-111437600	Enhancers	Placenta	Placenta
40	chr2:111436600-111438600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:111436800-111437000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:111436800-111437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:111436800-111437000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:111436800-111437000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:111436800-111437000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:111436800-111437000	Enhancers	Primary T cells from cord blood	blood
47	chr2:111436800-111437000	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:111436800-111437000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:111436800-111437000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:111436800-111437000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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