Variant report

Variant	rs189398561
Chromosome Location	chr2:86975230-86975231
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	JUND	chr2:86975148-86975479	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:86975104-86975486	ECC-1	luminal epithelium:	n/a	n/a
3	MYC	chr2:86975206-86975398	MCF10A-Er-Src	breast:	n/a	chr2:86975323-86975332
4	MYC	chr2:86975225-86975425	MCF10A-Er-Src	breast:	n/a	chr2:86975323-86975332
5	TBP	chr2:86975104-86975526	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:86975138-86975472	U87	brain:	n/a	n/a
7	STAT3	chr2:86975115-86975425	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:86975151-86975500	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr2:86975130-86975541	IMR90	lung:	n/a	n/a
10	RCOR1	chr2:86975122-86975434	K562	blood:	n/a	n/a
11	CEBPB	chr2:86975142-86975515	MCF-7	breast:	n/a	n/a
12	CEBPB	chr2:86975099-86975527	K562	blood:	n/a	n/a
13	MYC	chr2:86975185-86975499	H1-hESC	embryonic stem cell:	n/a	chr2:86975323-86975332
14	JUN	chr2:86974764-86975853	K562	blood:	n/a	n/a
15	CEBPB	chr2:86975069-86975515	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr2:86975147-86975515	HepG2	liver:	n/a	n/a
17	STAT3	chr2:86975112-86975446	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr2:86975166-86975451	K562	blood:	n/a	n/a
19	CEBPB	chr2:86974938-86975694	HCT-116	colon:	n/a	n/a
20	MYC	chr2:86975204-86975418	K562	blood:	n/a	chr2:86975323-86975332
21	ATF1	chr2:86975197-86975467	K562	blood:	n/a	n/a
22	CEBPB	chr2:86975147-86975522	H1-hESC	embryonic stem cell:	n/a	n/a
23	KAP1	chr2:86975054-86975684	HEK293	kidney:	n/a	n/a
24	EP300	chr2:86975165-86975556	Hela-S3	cervix:	n/a	n/a
25	RFX5	chr2:86975141-86975384	H1-hESC	embryonic stem cell:	n/a	chr2:86975286-86975302 chr2:86975287-86975301 chr2:86975291-86975300 chr2:86975289-86975303
26	KAP1	chr2:86975081-86975541	U2OS	brain:	n/a	n/a
27	FOS	chr2:86975153-86975495	MCF10A-Er-Src	breast:	n/a	n/a
28	SETDB1	chr2:86975214-86975540	U2OS	brain:	n/a	n/a
29	JUND	chr2:86975157-86975493	K562	blood:	n/a	n/a
30	CEBPB	chr2:86975164-86975481	A549	lung:	n/a	n/a
31	CEBPB	chr2:86975132-86975492	MCF-7	breast:	n/a	n/a
32	ATF3	chr2:86975156-86975457	K562	blood:	n/a	n/a
33	FOS	chr2:86975184-86975506	MCF10A-Er-Src	breast:	n/a	n/a
34	CEBPB	chr2:86974999-86975648	HCT-116	colon:	n/a	n/a
35	CEBPB	chr2:86975124-86975622	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr2:86975205-86975478	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr2:86975200-86975350	HPAF	blood vessel:	n/a	n/a
38	CEBPB	chr2:86975135-86975531	K562	blood:	n/a	n/a
39	EP300	chr2:86975073-86975609	K562	blood:	n/a	n/a
40	CEBPB	chr2:86975226-86975383	HepG2	liver:	n/a	n/a
41	FOS	chr2:86975153-86975513	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:

Variant related genes	Relation type
RMND5A	TF binding region
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv521780	chr2:86974318-86994719	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:86962200-86975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:86962200-86977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:86966800-86977200	Weak transcription	Osteobl	bone
6	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:86968800-86977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:86968800-86977000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
11	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
14	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86969400-86979000	Weak transcription	Ovary	ovary
16	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
17	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:86969600-86977200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:86969600-86995400	Weak transcription	Esophagus	oesophagus
21	chr2:86969800-86977200	Weak transcription	Fetal Kidney	kidney
22	chr2:86969800-86978600	Weak transcription	HSMM	muscle
23	chr2:86970000-86976000	Weak transcription	Hela-S3	cervix
24	chr2:86970000-86979800	Weak transcription	Colonic Mucosa	Colon
25	chr2:86970000-86980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:86970000-87002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:86970200-86976800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:86970400-86980600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:86970400-86995400	Weak transcription	Aorta	Aorta
30	chr2:86971400-86976000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:86971600-86976600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:86971600-86977000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:86971600-86993000	Weak transcription	Lung	lung
34	chr2:86972000-86975400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:86972000-86976400	Weak transcription	Fetal Stomach	stomach
36	chr2:86972000-86978400	Weak transcription	Psoas Muscle	Psoas
37	chr2:86972000-86978800	Weak transcription	Left Ventricle	heart
38	chr2:86972000-86979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:86972000-86987600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:86972000-86993000	Weak transcription	Right Ventricle	heart
41	chr2:86972000-86993000	Weak transcription	Spleen	Spleen
42	chr2:86972000-86995400	Weak transcription	Pancreas	Pancrea
43	chr2:86972200-86976200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:86972200-86976200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:86972600-86975400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:86973400-86975400	Strong transcription	Thymus	Thymus
47	chr2:86973800-86975400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:86973800-86975600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:86973800-86975800	Enhancers	Brain Angular Gyrus	brain
50	chr2:86973800-86976800	Weak transcription	HepG2	liver

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