Variant report

Variant	rs117085417
Chromosome Location	chr2:98279920-98279921
allele	C/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	chr2:98278939-98281047	HepG2	liver:	n/a	n/a
2	EBF1	chr2:98279015-98280866	GM12878	blood:	n/a	chr2:98279203-98279214 chr2:98279203-98279216
3	IRF1	chr2:98279227-98281284	K562	blood:	n/a	chr2:98280508-98280522 chr2:98279778-98279792 chr2:98280584-98280598 chr2:98280523-98280532
4	TAF1	chr2:98279804-98280058	GM12878	blood:	n/a	n/a
5	TBP	chr2:98279760-98281425	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr2:98279342-98279954	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
8	TBP	chr2:98279301-98280154	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:98279158-98280381	K562	blood:	n/a	n/a
10	TEAD4	chr2:98279054-98280052	HepG2	liver:	n/a	chr2:98279746-98279755
11	POLR2A	chr2:98279814-98280949	A549	lung:	n/a	n/a
12	POLR2A	chr2:98279822-98281088	HCT-116	colon:	n/a	n/a
13	CHD2	chr2:98279606-98280073	K562	blood:	n/a	n/a
14	TEAD4	chr2:98279350-98279947	K562	blood:	n/a	chr2:98279746-98279755
15	BCLAF1	chr2:98279107-98280050	GM12878	blood:	n/a	chr2:98279469-98279478
16	POLR2A	chr2:98277387-98280171	K562	blood:	n/a	n/a
17	POLR2A	chr2:98279428-98281127	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:98279422-98280907	HepG2	liver:	n/a	n/a
19	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
20	POLR2A	chr2:98279175-98281003	GM15510	blood:	n/a	n/a
21	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
22	TAF1	chr2:98279645-98280170	PFSK-1	brain:	n/a	n/a
23	YY1	chr2:98279157-98280872	GM12892	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
24	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
25	JUN	chr2:98279205-98280225	K562	blood:	n/a	chr2:98279470-98279477 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478
26	POLR2A	chr2:98279086-98281133	GM18951	blood:	n/a	n/a
27	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
28	MAZ	chr2:98279123-98281339	K562	blood:	n/a	chr2:98280224-98280234
29	HA-E2F1	chr2:98279479-98281376	MCF-7	breast:	n/a	chr2:98280412-98280424 chr2:98280708-98280719 chr2:98280523-98280532 chr2:98280224-98280233 chr2:98280585-98280594 chr2:98280361-98280370
30	MAZ	chr2:98279171-98281191	GM12878	blood:	n/a	chr2:98280224-98280234
31	SPI1	chr2:98279854-98280001	K562	blood:	n/a	n/a
32	PBX3	chr2:98279846-98280188	GM12878	blood:	n/a	n/a
33	NR2F2	chr2:98279126-98280143	K562	blood:	n/a	n/a
34	ZBTB7A	chr2:98279870-98280748	K562	blood:	n/a	n/a
35	YY1	chr2:98279581-98281193	GM12878	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
36	JUND	chr2:98279156-98281542	K562	blood:	n/a	chr2:98280407-98280416 chr2:98279467-98279478 chr2:98279470-98279477 chr2:98280411-98280420 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478 chr2:98280223-98280232
37	RFX5	chr2:98279178-98281483	Hela-S3	cervix:	n/a	chr2:98280645-98280659
38	MAX	chr2:98279775-98281022	A549	lung:	n/a	chr2:98280224-98280234
39	POLR2A	chr2:98279226-98281507	K562	blood:	n/a	n/a
40	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
41	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
42	MAX	chr2:98279778-98281040	H1-hESC	embryonic stem cell:	n/a	chr2:98280224-98280234
43	SIN3AK20	chr2:98279846-98280231	K562	blood:	n/a	n/a
44	POLR2A	chr2:98279093-98281083	HUVEC	blood vessel:	n/a	n/a
45	TBP	chr2:98279169-98281431	K562	blood:	n/a	n/a
46	EP300	chr2:98279901-98280000	GM12878	blood:	n/a	n/a
47	RFX5	chr2:98279560-98281207	HepG2	liver:	n/a	chr2:98280645-98280659
48	POLR2A	chr2:98279459-98280933	Gliobla	brain:	n/a	n/a
49	POLR2A	chr2:98279096-98281055	HUVEC	blood vessel:	n/a	n/a
50	STAT5A	chr2:98279131-98280325	GM12878	blood:	n/a	chr2:98279469-98279478

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98278220..98280235-chr2:98364964..98367550,2	K562	blood:
3	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
4	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
5	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
6	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
7	chr1:205512157..205513071-chr2:98279668..98280363,2	Hela-S3	cervix:
8	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
9	chr2:98279825..98280513-chr7:32982049..32982668,2	Hela-S3	cervix:
10	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
11	chr17:45400778..45401757-chr2:98279614..98280188,2	Hela-S3	cervix:
12	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
13	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:
14	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
ACTR1B	TF binding region
LINC01125	TF binding region
ENSG00000178852	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000115085	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000228486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3435324	chr2:98279520-98282118	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:98278200-98280000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr2:98278200-98280000	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr2:98278400-98280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:98278600-98280000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr2:98278600-98280000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr2:98278600-98280000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:98278600-98280000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:98278600-98280000	Flanking Active TSS	Colonic Mucosa	Colon
9	chr2:98278600-98280000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr2:98278600-98280000	Flanking Active TSS	NH-A	brain
11	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:98278800-98280000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:98278800-98280000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr2:98278800-98280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:98278800-98280000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:98278800-98280000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:98278800-98280000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:98278800-98280000	Flanking Active TSS	HMEC	breast
23	chr2:98278800-98280000	Flanking Active TSS	HSMMtube	muscle
24	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:98279000-98280000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:98279000-98280000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr2:98279000-98280000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:98279000-98280000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:98279000-98280000	Flanking Active TSS	Liver	Liver
30	chr2:98279000-98280000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:98279000-98280000	Flanking Active TSS	Fetal Stomach	stomach
32	chr2:98279000-98280000	Flanking Active TSS	HUVEC	blood vessel
33	chr2:98279000-98280200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:98279000-98281400	Active TSS	Ovary	ovary
35	chr2:98279000-98281400	Active TSS	Psoas Muscle	Psoas
36	chr2:98279200-98280000	Active TSS	Right Atrium	heart
37	chr2:98279200-98281200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:98279200-98281200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr2:98279200-98281200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr2:98279200-98281400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:98279200-98281400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:98279200-98281400	Active TSS	Left Ventricle	heart
43	chr2:98279200-98281400	Active TSS	GM12878-XiMat	blood
44	chr2:98279200-98281400	Active TSS	NHLF	lung
45	chr2:98279200-98281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:98279200-98281600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:98279200-98281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:98279200-98281800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:98279200-98281800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:98279400-98280000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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