Variant report

Variant	rs111844173
Chromosome Location	chr2:111436773-111436774
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	EP300	chr2:111434930-111437363	K562	blood:	n/a	chr2:111436737-111436746
2	CHD1	chr2:111434776-111436780	GM12878	blood:	n/a	chr2:111435475-111435485
3	ELK1	chr2:111435807-111436884	K562	blood:	n/a	n/a
4	MYC	chr2:111435052-111437318	K562	blood:	n/a	chr2:111435181-111435189
5	CCNT2	chr2:111436711-111437205	K562	blood:	n/a	n/a
6	RCOR1	chr2:111436319-111437309	K562	blood:	n/a	n/a
7	TAL1	chr2:111435429-111437712	K562	blood:	n/a	n/a
8	POLR2A	chr2:111434634-111437160	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:111435008-111436978	MCF10A-Er-Src	breast:	n/a	n/a
10	CUX1	chr2:111436287-111436982	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:111435366-111437326	K562	blood:	n/a	n/a
12	HEY1	chr2:111435331-111437277	K562	blood:	n/a	n/a
13	POLR2A	chr2:111435358-111437484	K562	blood:	n/a	n/a
14	POLR2A	chr2:111435163-111437997	K562	blood:	n/a	n/a
15	ZNF143	chr2:111435581-111437103	GM12878	blood:	n/a	chr2:111436660-111436678 chr2:111436656-111436671 chr2:111436154-111436172
16	MXI1	chr2:111434611-111436942	SK-N-SH	brain:	n/a	n/a
17	MAFF	chr2:111436242-111437274	K562	blood:	n/a	n/a
18	TBL1XR1	chr2:111434583-111437480	K562	blood:	n/a	n/a
19	HEY1	chr2:111436718-111437215	K562	blood:	n/a	n/a
20	ZNF143	chr2:111436509-111437132	K562	blood:	n/a	chr2:111436660-111436678 chr2:111436656-111436671
21	POLR2A	chr2:111434790-111437321	PBDE	blood:	n/a	n/a
22	SMC3	chr2:111436387-111437049	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:111435323-111437046	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:111435349-111437091	GM18526	blood:	n/a	n/a
25	POLR2A	chr2:111435347-111436812	GM12892	blood:	n/a	n/a
26	MAZ	chr2:111435295-111437989	K562	blood:	n/a	chr2:111437521-111437531 chr2:111437890-111437900
27	POLR2A	chr2:111435327-111437315	K562	blood:	n/a	n/a
28	POLR2A	chr2:111435011-111437101	MCF10A-Er-Src	breast:	n/a	n/a
29	JUND	chr2:111435272-111437384	K562	blood:	n/a	chr2:111436506-111436517
30	E2F4	chr2:111433605-111437150	MCF10A-Er-Src	breast:	n/a	chr2:111435712-111435721 chr2:111435496-111435506 chr2:111436387-111436396
31	PML	chr2:111436434-111437271	K562	blood:	n/a	n/a
32	KAP1	chr2:111435662-111437833	HEK293	kidney:	n/a	n/a
33	ZNF384	chr2:111436657-111437366	K562	blood:	n/a	n/a
34	MYC	chr2:111435240-111437350	K562	blood:	n/a	n/a
35	UBTF	chr2:111435148-111437238	K562	blood:	n/a	n/a
36	IRF1	chr2:111434624-111437309	K562	blood:	n/a	chr2:111435803-111435813 chr2:111436271-111436284 chr2:111435779-111435788 chr2:111435712-111435721 chr2:111436386-111436400 chr2:111435800-111435813 chr2:111435800-111435814 chr2:111434829-111434845
37	TEAD4	chr2:111436424-111437359	K562	blood:	n/a	n/a
38	BHLHE40	chr2:111435201-111436778	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:111435205-111437655	K562	blood:	n/a	n/a
40	IRF1	chr2:111434062-111437302	K562	blood:	n/a	chr2:111435803-111435813 chr2:111436271-111436284 chr2:111435779-111435788 chr2:111434377-111434388 chr2:111435712-111435721 chr2:111436386-111436400 chr2:111435800-111435813 chr2:111435800-111435814 chr2:111434829-111434845
41	MAFK	chr2:111436492-111437152	K562	blood:	n/a	n/a
42	POLR2A	chr2:111435261-111437224	K562	blood:	n/a	n/a
43	EP300	chr2:111436771-111437151	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:111435129-111437207	K562	blood:	n/a	n/a
45	POLR2A	chr2:111435213-111437240	K562	blood:	n/a	n/a
46	POLR2A	chr2:111435206-111436777	HepG2	liver:	n/a	n/a
47	GTF2B	chr2:111436649-111437028	K562	blood:	n/a	n/a
48	MTA3	chr2:111435182-111436777	GM12878	blood:	n/a	n/a
49	ZMIZ1	chr2:111435040-111437653	K562	blood:	n/a	n/a
50	TBP	chr2:111435147-111437407	K562	blood:	n/a	n/a

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:
4	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:

Variant related genes	Relation type
BUB1	TF binding region
ENSG00000153094	Chromatin interaction

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111433800-111436800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:111434200-111436800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr2:111434200-111436800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:111434200-111436800	Active TSS	NHDF-Ad	bronchial
5	chr2:111434200-111437200	Active TSS	K562	blood
6	chr2:111434200-111437200	Active TSS	NHLF	lung
7	chr2:111434600-111437000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:111434600-111437200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:111434800-111436800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:111435000-111436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:111435000-111436800	Active TSS	Brain Hippocampus Middle	brain
12	chr2:111435000-111436800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:111435000-111436800	Active TSS	Fetal Muscle Trunk	muscle
14	chr2:111435000-111436800	Active TSS	HSMMtube	muscle
15	chr2:111435200-111436800	Active TSS	Brain Angular Gyrus	brain
16	chr2:111435200-111436800	Active TSS	Colonic Mucosa	Colon
17	chr2:111435200-111436800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:111435200-111436800	Active TSS	Right Atrium	heart
19	chr2:111435200-111437000	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:111435200-111437200	Active TSS	Aorta	Aorta
21	chr2:111435400-111436800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:111435400-111436800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr2:111435400-111436800	Active TSS	Brain Cingulate Gyrus	brain
24	chr2:111435400-111436800	Active TSS	Brain Germinal Matrix	brain
25	chr2:111435400-111436800	Active TSS	Fetal Intestine Small	intestine
26	chr2:111435400-111436800	Active TSS	Right Ventricle	heart
27	chr2:111435400-111437200	Active TSS	Ovary	ovary
28	chr2:111435400-111437400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:111435800-111437000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:111436000-111437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:111436000-111437200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:111436200-111436800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:111436200-111436800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr2:111436200-111436800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:111436200-111436800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:111436200-111436800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:111436200-111436800	Flanking Active TSS	HMEC	breast
38	chr2:111436200-111436800	Flanking Active TSS	HUVEC	blood vessel
39	chr2:111436200-111436800	Flanking Active TSS	NH-A	brain
40	chr2:111436200-111436800	Flanking Active TSS	NHEK	skin
41	chr2:111436200-111436800	Flanking Active TSS	Osteobl	bone
42	chr2:111436200-111437000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:111436200-111437000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:111436200-111437000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:111436200-111437000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:111436200-111437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:111436400-111436800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:111436400-111436800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:111436400-111436800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:111436400-111436800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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