Variant report

Variant	rs552356659
Chromosome Location	chr3:150125759-150125760
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	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	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
6	POLR2A	chr3:150125732-150126840	HepG2	liver:	n/a	n/a
7	USF2	chr3:150125616-150128150	GM12878	blood:	n/a	chr3:150126547-150126563 chr3:150125747-150125758
8	TBP	chr3:150125546-150127012	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr3:150125067-150129102	A549	lung:	n/a	chr3:150125747-150125757
10	MAZ	chr3:150125335-150127168	K562	blood:	n/a	n/a
11	POLR2A	chr3:150125006-150126595	SK-N-MC	brain:	n/a	n/a
12	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
13	YY1	chr3:150125643-150127097	SK-N-SH	brain:	n/a	chr3:150126312-150126321
14	MXI1	chr3:150125032-150131571	SK-N-SH	brain:	n/a	chr3:150130450-150130459
15	POLR2A	chr3:150125375-150129053	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:150124962-150128050	U87	brain:	n/a	n/a
17	JUND	chr3:150125704-150126533	H1-hESC	embryonic stem cell:	n/a	chr3:150126364-150126373 chr3:150126007-150126016
18	POLR2A	chr3:150125325-150127053	K562	blood:	n/a	n/a
19	POLR2A	chr3:150125414-150127157	HUVEC	blood vessel:	n/a	n/a
20	CREB1	chr3:150125616-150126400	H1-hESC	embryonic stem cell:	n/a	chr3:150126005-150126018
21	USF1	chr3:150125612-150126137	SK-N-SH_RA	brain:	n/a	chr3:150125748-150125759
22	POLR2A	chr3:150125100-150127439	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr3:150125311-150128440	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr3:150125094-150127185	MCF10A-Er-Src	breast:	n/a	n/a
25	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
26	CUX1	chr3:150125456-150126256	K562	blood:	n/a	n/a
27	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
28	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
29	MYC	chr3:150125543-150125861	K562	blood:	n/a	chr3:150125747-150125757
30	MAX	chr3:150125252-150128931	NB4	blood:	n/a	chr3:150125747-150125757
31	POLR2A	chr3:150125376-150127362	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr3:150125490-150127699	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr3:150125260-150128683	K562	blood:	n/a	n/a
34	EP300	chr3:150125470-150127077	ECC-1	luminal epithelium:	n/a	chr3:150126363-150126372 chr3:150126547-150126563 chr3:150126546-150126562 chr3:150126310-150126319 chr3:150126301-150126317 chr3:150126553-150126569
35	SIN3AK20	chr3:150125736-150129137	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:150125400-150128190	HepG2	liver:	n/a	n/a
37	STAT3	chr3:150125357-150125861	MCF10A-Er-Src	breast:	n/a	n/a
38	CHD2	chr3:150125600-150126966	K562	blood:	n/a	chr3:150126810-150126820
39	TAF1	chr3:150125575-150127105	K562	blood:	n/a	n/a
40	MAX	chr3:150125710-150125944	H1-hESC	embryonic stem cell:	n/a	chr3:150125747-150125757
41	POLR2A	chr3:150125575-150128772	K562	blood:	n/a	n/a
42	JUND	chr3:150124952-150126987	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150125540-150125551 chr3:150125537-150125549
43	USF2	chr3:150125385-150125923	Hela-S3	cervix:	n/a	chr3:150125747-150125758
44	SP1	chr3:150125461-150127057	A549	lung:	n/a	chr3:150125995-150126004 chr3:150126811-150126820 chr3:150125940-150125952 chr3:150125942-150125951 chr3:150125991-150126005 chr3:150126810-150126822 chr3:150126418-150126427 chr3:150125954-150125965 chr3:150125941-150125951 chr3:150125994-150126006 chr3:150125940-150125951 chr3:150125690-150125704 chr3:150125996-150126005 chr3:150125994-150126006 chr3:150125940-150125952 chr3:150125941-150125950
45	BHLHE40	chr3:150125606-150127282	HepG2	liver:	n/a	chr3:150126547-150126563
46	TAF1	chr3:150125649-150125858	GM12891	blood:	n/a	n/a
47	REST	chr3:150125336-150128406	H1-neurons	neurons:	n/a	chr3:150126165-150126178 chr3:150126175-150126193 chr3:150126518-150126531 chr3:150126828-150126846
48	POLR2A	chr3:150125703-150125887	GM12891	blood:	n/a	n/a
49	TAF1	chr3:150125527-150127286	K562	blood:	n/a	n/a
50	MYC	chr3:150125349-150126364	K562	blood:	n/a	chr3:150125747-150125757

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	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
4	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
5	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
6	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
7	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
8	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
9	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
10	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
11	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
12	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
13	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
14	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
15	chr3:150125721..150126332-chr6:134495386..134495999,2	Hela-S3	cervix:
16	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
17	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
18	chr3:150125609..150126516-chr4:56261520..56262416,2	HCT-116	colon:
19	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
20	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
21	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000268175	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000070087	Chromatin interaction
ENSG00000170340	Chromatin interaction
ENSG00000243550	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000118515	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000196428	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:124 , 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	chr3:150124800-150125800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:150124800-150126400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr3:150124800-150128600	Active TSS	HSMM	muscle
11	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:150125000-150125800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:150125000-150125800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:150125000-150125800	Flanking Active TSS	Dnd41	blood
17	chr3:150125000-150126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:150125000-150127000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:150125000-150128400	Active TSS	Right Ventricle	heart
23	chr3:150125000-150128600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:150125000-150128600	Active TSS	Fetal Muscle Trunk	muscle
25	chr3:150125000-150128600	Active TSS	Fetal Muscle Leg	muscle
26	chr3:150125000-150128600	Active TSS	K562	blood
27	chr3:150125000-150129200	Active TSS	Brain Substantia Nigra	brain
28	chr3:150125000-150129200	Active TSS	Duodenum Mucosa	Duodenum
29	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
30	chr3:150125000-150130400	Active TSS	Liver	Liver
31	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
34	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
35	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr3:150125000-150131200	Active TSS	Placenta	Placenta
37	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
39	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
40	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
41	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
43	chr3:150125200-150125800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr3:150125200-150125800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr3:150125200-150125800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:150125200-150125800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:150125200-150125800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr3:150125200-150125800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:150125200-150126000	Active TSS	Fetal Brain Male	brain
50	chr3:150125200-150126200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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