Variant report

Variant	rs75981534
Chromosome Location	chr2:9777602-9777603
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	RUNX3	chr2:9777299-9777858	GM12878	blood:	n/a	n/a
2	EP300	chr2:9777436-9777758	SK-N-SH_RA	brain:	n/a	chr2:9777535-9777544 chr2:9777536-9777545
3	GATA3	chr2:9777255-9777988	SK-N-SH	brain:	n/a	n/a
4	JUND	chr2:9777116-9779756	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
5	MAZ	chr2:9777591-9777855	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr2:9777230-9778047	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr2:9777444-9777781	SK-N-SH_RA	brain:	n/a	chr2:9777764-9777777
8	ZNF384	chr2:9777466-9777604	K562	blood:	n/a	n/a
9	BATF	chr2:9777365-9777778	GM12878	blood:	n/a	chr2:9777537-9777547 chr2:9777536-9777547
10	POLR2A	chr2:9777353-9777770	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr2:9777418-9777712	K562	blood:	n/a	n/a
12	FOS	chr2:9777332-9777754	HUVEC	blood vessel:	n/a	chr2:9777536-9777545 chr2:9777534-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
13	RCOR1	chr2:9777508-9777700	K562	blood:	n/a	n/a
14	JUN	chr2:9777401-9777681	K562	blood:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
15	FOS	chr2:9777368-9777720	MCF10A-Er-Src	breast:	n/a	chr2:9777536-9777545 chr2:9777534-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
16	JUN	chr2:9776563-9777932	K562	blood:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
17	JUND	chr2:9777287-9777878	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
18	IKZF1	chr2:9777421-9777621	GM12878	blood:	n/a	n/a
19	MYC	chr2:9777332-9777675	MCF10A-Er-Src	breast:	n/a	chr2:9777536-9777545
20	FOSL2	chr2:9777248-9777830	A549	lung:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
21	FOS	chr2:9777409-9777685	MCF10A-Er-Src	breast:	n/a	chr2:9777536-9777545 chr2:9777534-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
22	FOSL1	chr2:9777185-9777909	HCT-116	colon:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
23	EP300	chr2:9777468-9777743	GM12878	blood:	n/a	chr2:9777535-9777544 chr2:9777536-9777545
24	FOSL2	chr2:9777208-9777879	SK-N-SH	brain:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777305-9777319 chr2:9777535-9777544 chr2:9777536-9777544
25	BHLHE40	chr2:9777509-9777817	GM12878	blood:	n/a	n/a
26	JUND	chr2:9777311-9777737	Hela-S3	cervix:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777535-9777544 chr2:9777536-9777544
27	GATA2	chr2:9777379-9777779	HUVEC	blood vessel:	n/a	n/a
28	JUN	chr2:9777381-9777705	HepG2	liver:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
29	EP300	chr2:9777387-9777664	GM12878	blood:	n/a	chr2:9777535-9777544 chr2:9777536-9777545
30	RAD21	chr2:9777429-9777739	Hela-S3	cervix:	n/a	n/a
31	JUND	chr2:9777356-9777740	K562	blood:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777535-9777544 chr2:9777536-9777544
32	NFIC	chr2:9777267-9777788	GM12878	blood:	n/a	n/a
33	JUN	chr2:9777384-9777715	HUVEC	blood vessel:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
34	FOS	chr2:9777363-9777720	MCF10A-Er-Src	breast:	n/a	chr2:9777536-9777545 chr2:9777534-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
35	FOS	chr2:9777398-9777688	MCF10A-Er-Src	breast:	n/a	chr2:9777536-9777545 chr2:9777534-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
36	EP300	chr2:9777471-9777819	SK-N-SH_RA	brain:	n/a	chr2:9777535-9777544 chr2:9777536-9777545
37	JUND	chr2:9777360-9777733	HepG2	liver:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777534-9777545 chr2:9777535-9777544 chr2:9777536-9777544
38	RUNX3	chr2:9777345-9777820	GM12878	blood:	n/a	n/a
39	PBX3	chr2:9777273-9777917	SK-N-SH	brain:	n/a	n/a
40	JUN	chr2:9777359-9777753	Hela-S3	cervix:	n/a	chr2:9777536-9777545 chr2:9777536-9777543 chr2:9777535-9777544 chr2:9777536-9777544
41	EBF1	chr2:9777456-9777847	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9776400..9778601-chr2:9910278..9912270,2	K562	blood:
2	chr2:9695463..9697852-chr2:9776763..9778612,2	K562	blood:
3	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
4	chr2:9775999..9777968-chr2:9781245..9783504,2	K562	blood:
5	chr2:9695463..9697852-chr2:9775968..9778612,3	K562	blood:
6	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
7	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240687	TF binding region
ENSG00000134308	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3401275	chr2:9775301-9779799	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9771600-9777800	Weak transcription	Lung	lung
2	chr2:9772000-9777800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:9772000-9778400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:9772400-9778000	Weak transcription	Right Atrium	heart
6	chr2:9772600-9777800	Weak transcription	Left Ventricle	heart
7	chr2:9772800-9780200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:9773000-9778200	Weak transcription	Right Ventricle	heart
9	chr2:9773000-9778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:9773000-9778400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:9773600-9777800	Weak transcription	Placenta	Placenta
12	chr2:9773600-9778000	Weak transcription	Psoas Muscle	Psoas
13	chr2:9774400-9777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:9774800-9778200	Weak transcription	Fetal Intestine Large	intestine
15	chr2:9775000-9782800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:9776200-9777800	Enhancers	Brain Hippocampus Middle	brain
17	chr2:9776200-9778000	Enhancers	Brain Anterior Caudate	brain
18	chr2:9776200-9778200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:9776400-9778400	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:9776400-9779600	Enhancers	Brain Substantia Nigra	brain
21	chr2:9776400-9782000	Enhancers	HMEC	breast
22	chr2:9776600-9779400	Enhancers	Brain Angular Gyrus	brain
23	chr2:9776600-9780200	Enhancers	HSMM	muscle
24	chr2:9776600-9781200	Enhancers	NHDF-Ad	bronchial
25	chr2:9776800-9778000	Weak transcription	Gastric	stomach
26	chr2:9776800-9779000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:9776800-9779000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:9776800-9779000	Enhancers	NHLF	lung
29	chr2:9776800-9779800	Enhancers	Osteobl	bone
30	chr2:9776800-9780000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:9776800-9780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:9776800-9780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:9776800-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:9777000-9778400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:9777000-9778800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:9777000-9779400	Enhancers	NHEK	skin
37	chr2:9777000-9779600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:9777000-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:9777000-9779800	Enhancers	NH-A	brain
40	chr2:9777000-9780000	Enhancers	HSMMtube	muscle
41	chr2:9777000-9781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:9777000-9781000	Enhancers	K562	blood
43	chr2:9777200-9777800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:9777200-9778000	Enhancers	GM12878-XiMat	blood
45	chr2:9777200-9779200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:9777200-9779400	Enhancers	HUVEC	blood vessel
47	chr2:9777200-9779800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:9777200-9781000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:9777200-9781000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:9777400-9778400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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