Variant report

Variant	rs575947092
Chromosome Location	chr3:150127129-150127130
allele	G/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	USF2	chr3:150125616-150128150	GM12878	blood:	n/a	chr3:150126547-150126563 chr3:150125747-150125758
2	MAX	chr3:150125067-150129102	A549	lung:	n/a	chr3:150125747-150125757
3	MAZ	chr3:150125335-150127168	K562	blood:	n/a	n/a
4	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
5	CTCF	chr3:150127120-150127270	BJ	skin:	n/a	n/a
6	MXI1	chr3:150125032-150131571	SK-N-SH	brain:	n/a	chr3:150130450-150130459
7	MAFK	chr3:150125939-150127359	Hela-S3	cervix:	n/a	chr3:150126627-150126644 chr3:150126187-150126198
8	POLR2A	chr3:150125375-150129053	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:150124962-150128050	U87	brain:	n/a	n/a
10	POLR2A	chr3:150125414-150127157	HUVEC	blood vessel:	n/a	n/a
11	TEAD4	chr3:150125908-150127162	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr3:150125100-150127439	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr3:150125311-150128440	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:150125094-150127185	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
16	RAD21	chr3:150126996-150129135	SK-N-SH	brain:	n/a	n/a
17	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
18	MAX	chr3:150125252-150128931	NB4	blood:	n/a	chr3:150125747-150125757
19	POLR2A	chr3:150125376-150127362	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr3:150125490-150127699	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr3:150125260-150128683	K562	blood:	n/a	n/a
22	YY1	chr3:150125838-150127303	GM12878	blood:	n/a	chr3:150126312-150126321
23	SIN3AK20	chr3:150125736-150129137	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:150125400-150128190	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:150125921-150127275	A549	lung:	n/a	n/a
26	RAD21	chr3:150125952-150127182	MCF-7	breast:	n/a	chr3:150126160-150126179
27	ELF1	chr3:150125888-150128439	GM12878	blood:	n/a	chr3:150126312-150126321 chr3:150126308-150126320
28	POLR2A	chr3:150125575-150128772	K562	blood:	n/a	n/a
29	TAF1	chr3:150125905-150127222	H1-neurons	neurons:	n/a	n/a
30	BHLHE40	chr3:150125606-150127282	HepG2	liver:	n/a	chr3:150126547-150126563
31	REST	chr3:150125336-150128406	H1-neurons	neurons:	n/a	chr3:150126165-150126178 chr3:150126175-150126193 chr3:150126518-150126531 chr3:150126828-150126846
32	TAF1	chr3:150125527-150127286	K562	blood:	n/a	n/a
33	POLR2A	chr3:150125311-150128930	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:150124997-150127275	SK-N-SH	brain:	n/a	n/a
35	FOXM1	chr3:150125863-150127140	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr3:150125117-150129299	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:150125736-150128935	MCF-7	breast:	n/a	n/a
38	POLR2A	chr3:150125121-150129116	PBDE	blood:	n/a	n/a
39	MAZ	chr3:150125536-150128385	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:150125201-150128178	GM12878	blood:	n/a	n/a
41	MAX	chr3:150125353-150127451	A549	lung:	n/a	chr3:150125747-150125757
42	HEY1	chr3:150125923-150127347	K562	blood:	n/a	chr3:150126008-150126017 chr3:150126753-150126768 chr3:150126862-150126877 chr3:150126625-150126640 chr3:150126364-150126379 chr3:150126652-150126667 chr3:150126006-150126015
43	EGR1	chr3:150125742-150127167	HCT-116	colon:	n/a	chr3:150126416-150126430 chr3:150125992-150126002 chr3:150125990-150126003
44	POLR2A	chr3:150125939-150127423	GM12892	blood:	n/a	n/a
45	TCF12	chr3:150125241-150128915	A549	lung:	n/a	chr3:150125660-150125667
46	EP300	chr3:150125512-150127257	GM12878	blood:	n/a	chr3:150126363-150126372 chr3:150126547-150126563 chr3:150126546-150126562 chr3:150126310-150126319 chr3:150126301-150126317 chr3:150126553-150126569
47	POLR2A	chr3:150125423-150128292	GM19099	blood:	n/a	n/a
48	ZNF263	chr3:150126040-150128073	HEK293-T-REx	kidney:	n/a	chr3:150126116-150126125 chr3:150126954-150126963 chr3:150126886-150126895
49	STAT5A	chr3:150127034-150127429	GM12878	blood:	n/a	chr3:150127066-150127078
50	TAF1	chr3:150125630-150127169	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:150106944..150109021-chr3:150126806..150128575,2	K562	blood:
3	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
4	chr2:242911446..242913304-chr3:150126973..150128473,2	MCF-7	breast:
5	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
6	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
7	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
8	chr11:6502596..6503357-chr3:150126285..150127148,2	Hela-S3	cervix:
9	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
10	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
11	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
12	chr3:150126707..150128602-chr3:150209463..150211558,2	MCF-7	breast:
13	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
14	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
15	chr3:150030571..150033361-chr3:150126551..150128588,2	K562	blood:
16	chr11:9594863..9595467-chr3:150126368..150127357,2	Hela-S3	cervix:
17	chr3:126194258..126194803-chr3:150126403..150127134,2	Hela-S3	cervix:
18	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
19	chr3:150126380..150127131-chr7:5632123..5632652,2	Hela-S3	cervix:
20	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
21	chr3:150097794..150100688-chr3:150126424..150128739,2	K562	blood:
22	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
23	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
24	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000268175	Chromatin interaction
ENSG00000070476	Chromatin interaction
ENSG00000243550	Chromatin interaction
ENSG00000170340	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000070087	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000265264	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000132286	Chromatin interaction
ENSG00000237940	Chromatin interaction
ENSG00000132254	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv592033	chr3:150126170-150128227	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv592034	chr3:150126351-150128227	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	40 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	chr3:150124600-150127400	Active TSS	NHLF	lung
2	chr3:150124600-150130600	Active TSS	Aorta	Aorta
3	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
5	chr3:150124600-150133000	Active TSS	Right Atrium	heart
6	chr3:150124800-150128600	Active TSS	HSMM	muscle
7	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
10	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:150125000-150128400	Active TSS	Right Ventricle	heart
14	chr3:150125000-150128600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr3:150125000-150128600	Active TSS	Fetal Muscle Trunk	muscle
16	chr3:150125000-150128600	Active TSS	Fetal Muscle Leg	muscle
17	chr3:150125000-150128600	Active TSS	K562	blood
18	chr3:150125000-150129200	Active TSS	Brain Substantia Nigra	brain
19	chr3:150125000-150129200	Active TSS	Duodenum Mucosa	Duodenum
20	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
21	chr3:150125000-150130400	Active TSS	Liver	Liver
22	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
25	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
26	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr3:150125000-150131200	Active TSS	Placenta	Placenta
28	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
30	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
31	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
32	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
34	chr3:150125200-150127200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr3:150125200-150128200	Active TSS	Colonic Mucosa	Colon
36	chr3:150125200-150128400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:150125200-150128400	Active TSS	Osteobl	bone
38	chr3:150125200-150128600	Active TSS	Primary T cells fromperipheralblood	blood
39	chr3:150125200-150128600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr3:150125200-150128600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr3:150125200-150128600	Active TSS	A549	lung
42	chr3:150125200-150128600	Active TSS	NHDF-Ad	bronchial
43	chr3:150125200-150128800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:150125200-150128800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr3:150125200-150129600	Active TSS	Fetal Brain Female	brain
46	chr3:150125200-150130600	Active TSS	Colon Smooth Muscle	Colon
47	chr3:150125200-150130600	Active TSS	Left Ventricle	heart
48	chr3:150125200-150130600	Active TSS	Ovary	ovary
49	chr3:150125200-150131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr3:150125200-150131200	Active TSS	H9 Cell Line	embryonic stem cell

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