Variant report

Variant	rs114090016
Chromosome Location	chr2:128144639-128144640
allele	A/G
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	ZKSCAN1	chr2:128144623-128144881	Hela-S3	cervix:	n/a	n/a
2	MAX	chr2:128144457-128146041	HepG2	liver:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
3	KAP1	chr2:128144396-128144929	HEK293	kidney:	n/a	n/a
4	RUNX3	chr2:128144347-128146478	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:128144343-128146428	GM12891	blood:	n/a	n/a
6	EP300	chr2:128144468-128146129	HepG2	liver:	n/a	chr2:128145703-128145719 chr2:128145712-128145728 chr2:128145498-128145507 chr2:128145501-128145517 chr2:128145468-128145484
7	POLR2A	chr2:128144624-128146116	MCF-7	breast:	n/a	n/a
8	SIN3A	chr2:128144430-128146062	H1-hESC	embryonic stem cell:	n/a	chr2:128145470-128145481 chr2:128144859-128144870 chr2:128145893-128145902
9	MAX	chr2:128144496-128146255	GM12878	blood:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
10	CHD1	chr2:128143649-128147067	IMR90	lung:	n/a	chr2:128145167-128145177
11	NRF1	chr2:128144336-128146260	SK-N-SH	brain:	n/a	chr2:128145663-128145674 chr2:128145663-128145677 chr2:128145665-128145674 chr2:128145628-128145639 chr2:128145660-128145674 chr2:128145663-128145674
12	TAF1	chr2:128144633-128145183	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr2:128144307-128146229	SK-N-MC	brain:	n/a	n/a
14	FOXM1	chr2:128144595-128145102	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr2:128144591-128145104	A549	lung:	n/a	n/a
16	RAD21	chr2:128144600-128146451	IMR90	lung:	n/a	chr2:128144843-128144853
17	MYBL2	chr2:128144475-128146159	HepG2	liver:	n/a	n/a
18	MAX	chr2:128144503-128146173	ECC-1	luminal epithelium:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
19	PML	chr2:128144447-128146442	GM12878	blood:	n/a	n/a
20	BCLAF1	chr2:128144567-128146390	GM12878	blood:	n/a	chr2:128145438-128145451 chr2:128145473-128145486 chr2:128145499-128145508 chr2:128145472-128145485
21	MXI1	chr2:128144504-128146058	HepG2	liver:	n/a	chr2:128145893-128145902
22	WRNIP1	chr2:128144530-128144913	GM12878	blood:	n/a	n/a
23	TCF12	chr2:128144476-128146453	A549	lung:	n/a	n/a
24	POLR2A	chr2:128144402-128146409	HepG2	liver:	n/a	n/a
25	GATA3	chr2:128144570-128145289	MCF-7	breast:	n/a	n/a
26	CHD1	chr2:128144476-128146698	GM12878	blood:	n/a	chr2:128145167-128145177
27	STAT5A	chr2:128144407-128145101	GM12878	blood:	n/a	n/a
28	KAP1	chr2:128144407-128144846	U2OS	brain:	n/a	n/a
29	MAFK	chr2:128144553-128144970	HepG2	liver:	n/a	n/a
30	MYC	chr2:128144598-128146340	K562	blood:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
31	CREB1	chr2:128144639-128146097	K562	blood:	n/a	n/a
32	RCOR1	chr2:128144425-128145079	Hela-S3	cervix:	n/a	n/a
33	EBF1	chr2:128144520-128147130	GM12878	blood:	n/a	chr2:128145148-128145157 chr2:128145148-128145157 chr2:128147052-128147061
34	MAX	chr2:128144397-128146221	HepG2	liver:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
35	POLR2A	chr2:128144374-128146684	HepG2	liver:	n/a	n/a
36	JUND	chr2:128144568-128146498	K562	blood:	n/a	n/a
37	HA-E2F1	chr2:128144581-128145983	MCF-7	breast:	n/a	chr2:128145664-128145673
38	EP300	chr2:128144549-128145131	K562	blood:	n/a	n/a
39	CREB1	chr2:128144340-128146406	HepG2	liver:	n/a	n/a
40	CHD2	chr2:128144621-128146564	GM12878	blood:	n/a	chr2:128145167-128145177
41	RCOR1	chr2:128144409-128146167	GM12878	blood:	n/a	n/a
42	MBD4	chr2:128144317-128144956	HepG2	liver:	n/a	n/a
43	ARID3A	chr2:128144411-128145080	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr2:128144562-128145634	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr2:128144378-128145125	U87	brain:	n/a	n/a
46	NFATC1	chr2:128144548-128145241	GM12878	blood:	n/a	n/a
47	MXI1	chr2:128144583-128146464	GM12878	blood:	n/a	chr2:128145893-128145902
48	POLR2A	chr2:128144624-128146455	Hela-S3	cervix:	n/a	n/a
49	MAX	chr2:128144534-128146405	NB4	blood:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
50	NFIC	chr2:128144388-128145141	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128143986..128147167-chr2:128178825..128181533,4	MCF-7	breast:
2	chr2:128100303..128102941-chr2:128143349..128145550,2	MCF-7	breast:
3	chr2:120435826..120437483-chr2:128143933..128146415,2	MCF-7	breast:
4	chr2:128142847..128144835-chr2:128235432..128237017,2	MCF-7	breast:
5	chr2:128100404..128103030-chr2:128144500..128146639,3	MCF-7	breast:
6	chr2:128143823..128146469-chr2:128456940..128459025,2	MCF-7	breast:
7	chr2:128144539..128145445-chr2:128165335..128166197,2	MCF-7	breast:
8	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
9	chr2:128123227..128125802-chr2:128143081..128145387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236682	TF binding region
ENSG00000144120	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000264075	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3346398	chr2:128143907-128146455	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3327412	chr2:128144082-128146880	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:128142400-128144800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:128142800-128144800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:128143200-128144800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr2:128143200-128144800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:128143200-128144800	Flanking Active TSS	Dnd41	blood
6	chr2:128143200-128145000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:128143200-128146200	Active TSS	Psoas Muscle	Psoas
8	chr2:128143400-128145800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:128143400-128145800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:128143600-128144800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:128143600-128145800	Active TSS	Fetal Intestine Large	intestine
12	chr2:128143600-128145800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:128143600-128146000	Active TSS	HSMMtube	muscle
14	chr2:128143800-128144800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr2:128143800-128144800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:128143800-128144800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:128143800-128144800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:128143800-128144800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:128143800-128144800	Flanking Active TSS	HUVEC	blood vessel
20	chr2:128143800-128144800	Flanking Active TSS	NH-A	brain
21	chr2:128143800-128144800	Flanking Active TSS	Osteobl	bone
22	chr2:128143800-128145800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:128143800-128145800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:128143800-128145800	Active TSS	Duodenum Mucosa	Duodenum
25	chr2:128143800-128145800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:128143800-128146000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:128143800-128146000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:128143800-128146000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:128143800-128146000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:128143800-128146000	Active TSS	A549	lung
31	chr2:128143800-128146000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:128143800-128146000	Active TSS	NHLF	lung
33	chr2:128143800-128146200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:128143800-128146200	Active TSS	Right Atrium	heart
35	chr2:128144000-128144800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:128144000-128144800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:128144000-128144800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:128144000-128144800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:128144000-128145800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:128144000-128145800	Active TSS	Thymus	Thymus
41	chr2:128144000-128145800	Active TSS	Hela-S3	cervix
42	chr2:128144000-128145800	Active TSS	HSMM	muscle
43	chr2:128144000-128146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:128144000-128146000	Active TSS	Brain Angular Gyrus	brain
45	chr2:128144000-128146000	Active TSS	Brain Cingulate Gyrus	brain
46	chr2:128144000-128146000	Active TSS	Brain Hippocampus Middle	brain
47	chr2:128144000-128146000	Active TSS	Ovary	ovary
48	chr2:128144000-128146000	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:128144000-128146200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:128144000-128146200	Active TSS	Brain Inferior Temporal Lobe	brain

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