Variant report

Variant	rs567355753
Chromosome Location	chr3:150126023-150126024
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	RELA	chr3:150125428-150126797	GM18951	blood:	n/a	n/a
2	JUND	chr3:150125540-150126236	A549	lung:	n/a	chr3:150126007-150126016 chr3:150125540-150125551
3	FOXM1	chr3:150125713-150127121	GM12878	blood:	n/a	n/a
4	ZMIZ1	chr3:150125358-150126928	K562	blood:	n/a	n/a
5	POLR2A	chr3:150125922-150126851	HepG2	liver:	n/a	n/a
6	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
7	POLR2A	chr3:150125732-150126840	HepG2	liver:	n/a	n/a
8	USF2	chr3:150125616-150128150	GM12878	blood:	n/a	chr3:150126547-150126563 chr3:150125747-150125758
9	TBP	chr3:150125546-150127012	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr3:150125067-150129102	A549	lung:	n/a	chr3:150125747-150125757
11	YY1	chr3:150125822-150126967	K562	blood:	n/a	chr3:150126312-150126321
12	MAZ	chr3:150125335-150127168	K562	blood:	n/a	n/a
13	POLR2A	chr3:150125006-150126595	SK-N-MC	brain:	n/a	n/a
14	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
15	POLR2A	chr3:150125934-150127012	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr3:150125643-150127097	SK-N-SH	brain:	n/a	chr3:150126312-150126321
17	MXI1	chr3:150125032-150131571	SK-N-SH	brain:	n/a	chr3:150130450-150130459
18	HDAC2	chr3:150125887-150126086	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr3:150125939-150127359	Hela-S3	cervix:	n/a	chr3:150126627-150126644 chr3:150126187-150126198
20	CTBP2	chr3:150125846-150126711	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:150125375-150129053	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr3:150126004-150126321	K562	blood:	n/a	n/a
23	POLR2A	chr3:150124962-150128050	U87	brain:	n/a	n/a
24	JUND	chr3:150125704-150126533	H1-hESC	embryonic stem cell:	n/a	chr3:150126364-150126373 chr3:150126007-150126016
25	POLR2A	chr3:150125325-150127053	K562	blood:	n/a	n/a
26	POLR2A	chr3:150125414-150127157	HUVEC	blood vessel:	n/a	n/a
27	TAF1	chr3:150125896-150126814	H1-neurons	neurons:	n/a	n/a
28	CREB1	chr3:150125616-150126400	H1-hESC	embryonic stem cell:	n/a	chr3:150126005-150126018
29	POLR2A	chr3:150125909-150126956	SK-N-SH	brain:	n/a	n/a
30	TAF7	chr3:150125940-150126432	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr3:150125908-150127162	SK-N-SH	brain:	n/a	n/a
32	USF1	chr3:150125612-150126137	SK-N-SH_RA	brain:	n/a	chr3:150125748-150125759
33	POLR2A	chr3:150125100-150127439	HUVEC	blood vessel:	n/a	n/a
34	TEAD4	chr3:150125900-150126285	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:150125311-150128440	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr3:150125094-150127185	MCF10A-Er-Src	breast:	n/a	n/a
37	HEY1	chr3:150125440-150127012	HepG2	liver:	n/a	chr3:150126008-150126017 chr3:150126753-150126768 chr3:150126862-150126877 chr3:150126625-150126640 chr3:150126364-150126379 chr3:150126652-150126667 chr3:150126006-150126015
38	CUX1	chr3:150125456-150126256	K562	blood:	n/a	n/a
39	POLR2A	chr3:150125918-150126880	HepG2	liver:	n/a	n/a
40	YY1	chr3:150125847-150126912	ECC-1	luminal epithelium:	n/a	chr3:150126312-150126321
41	YY1	chr3:150125989-150126388	K562	blood:	n/a	chr3:150126312-150126321
42	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
43	JUN	chr3:150124199-150130937	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150126003-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150130480-150130492 chr3:150127088-150127099
44	JUND	chr3:150125917-150126187	HepG2	liver:	n/a	chr3:150126007-150126016
45	POLR2A	chr3:150125927-150127028	A549	lung:	n/a	n/a
46	MAX	chr3:150125252-150128931	NB4	blood:	n/a	chr3:150125747-150125757
47	YY1	chr3:150125905-150126605	H1-hESC	embryonic stem cell:	n/a	chr3:150126312-150126321
48	EP300	chr3:150125816-150126306	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr3:150125376-150127362	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr3:150125931-150126315	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:149529989..149530963-chr3:150125716..150126282,2	Hela-S3	cervix:
3	chr1:45672068..45672603-chr3:150125909..150126562,2	Hela-S3	cervix:
4	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
5	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
6	chr1:52870255..52870785-chr3:150125995..150126971,2	Hela-S3	cervix:
7	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
8	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
9	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
10	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
11	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
12	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
13	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
14	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
15	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
16	chr15:65596964..65597745-chr3:150125789..150126616,2	Hela-S3	cervix:
17	chr3:150125965..150126743-chr7:66767157..66768127,2	Hela-S3	cervix:
18	chr11:47869483..47870186-chr3:150125929..150126438,2	HCT-116	colon:
19	chr3:150125915..150126693-chr4:7069548..7070207,2	Hela-S3	cervix:
20	chr3:150125721..150126332-chr6:134495386..134495999,2	Hela-S3	cervix:
21	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
22	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
23	chr3:150125609..150126516-chr4:56261520..56262416,2	HCT-116	colon:
24	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
25	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
26	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000118515	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000067601	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000070087	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000243550	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000268175	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000170340	Chromatin interaction
ENSG00000106610	Chromatin interaction
ENSG00000030066	Chromatin interaction
ENSG00000134748	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv14316	chr3:150124574-150128485	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
6	esv1834500	chr3:150125721-150128227	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
7	esv1835715	chr3:150125721-150128227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
8	esv1837405	chr3:150125721-150128227	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
9	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 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	chr3:150124600-150126200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:150124600-150127000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr3:150124600-150127400	Active TSS	NHLF	lung
4	chr3:150124600-150130600	Active TSS	Aorta	Aorta
5	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
7	chr3:150124600-150133000	Active TSS	Right Atrium	heart
8	chr3:150124800-150126400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:150124800-150128600	Active TSS	HSMM	muscle
10	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
13	chr3:150125000-150126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:150125000-150127000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:150125000-150128400	Active TSS	Right Ventricle	heart
19	chr3:150125000-150128600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:150125000-150128600	Active TSS	Fetal Muscle Trunk	muscle
21	chr3:150125000-150128600	Active TSS	Fetal Muscle Leg	muscle
22	chr3:150125000-150128600	Active TSS	K562	blood
23	chr3:150125000-150129200	Active TSS	Brain Substantia Nigra	brain
24	chr3:150125000-150129200	Active TSS	Duodenum Mucosa	Duodenum
25	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
26	chr3:150125000-150130400	Active TSS	Liver	Liver
27	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
30	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
31	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr3:150125000-150131200	Active TSS	Placenta	Placenta
33	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
35	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
36	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
37	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
39	chr3:150125200-150126200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:150125200-150126400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:150125200-150127200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:150125200-150128200	Active TSS	Colonic Mucosa	Colon
43	chr3:150125200-150128400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:150125200-150128400	Active TSS	Osteobl	bone
45	chr3:150125200-150128600	Active TSS	Primary T cells fromperipheralblood	blood
46	chr3:150125200-150128600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr3:150125200-150128600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr3:150125200-150128600	Active TSS	A549	lung
49	chr3:150125200-150128600	Active TSS	NHDF-Ad	bronchial
50	chr3:150125200-150128800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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