Variant report

Variant	rs189148609
Chromosome Location	chr3:150481210-150481211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:447)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr3:150481168-150481364	K562	blood:	n/a	n/a
2	POLR2A	chr3:150476883-150483109	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:150480310-150481986	HCT-116	colon:	n/a	n/a
4	HDAC2	chr3:150481033-150481509	K562	blood:	n/a	n/a
5	POLR2A	chr3:150480692-150481720	SK-N-SH	brain:	n/a	n/a
6	FOS	chr3:150480813-150481786	HUVEC	blood vessel:	n/a	chr3:150481393-150481405 chr3:150481394-150481404 chr3:150481395-150481403 chr3:150481394-150481404 chr3:150481394-150481404 chr3:150481393-150481404
7	HDAC2	chr3:150480754-150481993	HepG2	liver:	n/a	n/a
8	ATF2	chr3:150480894-150482108	GM12878	blood:	n/a	chr3:150480943-150480957
9	MXI1	chr3:150479220-150482056	GM12878	blood:	n/a	n/a
10	EBF1	chr3:150480738-150481255	GM12878	blood:	n/a	n/a
11	CEBPB	chr3:150480794-150481214	ECC-1	luminal epithelium:	n/a	n/a
12	CREB1	chr3:150480742-150482015	K562	blood:	n/a	n/a
13	PAX5	chr3:150480617-150481475	GM12892	blood:	n/a	chr3:150481380-150481389
14	CTBP2	chr3:150479678-150481976	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr3:150480806-150482021	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:150479212-150482050	MCF-7	breast:	n/a	n/a
17	POLR2A	chr3:150479559-150482054	HepG2	liver:	n/a	n/a
18	NR2F2	chr3:150480551-150482176	MCF-7	breast:	n/a	n/a
19	POLR2A	chr3:150479714-150483006	GM18505	blood:	n/a	n/a
20	POLR2A	chr3:150479676-150482089	GM19099	blood:	n/a	n/a
21	POLR2A	chr3:150479339-150482294	Hela-S3	cervix:	n/a	n/a
22	SIN3A	chr3:150480711-150481608	GM12878	blood:	n/a	chr3:150481403-150481417
23	TAF1	chr3:150480726-150481324	H1-neurons	neurons:	n/a	n/a
24	PAX5	chr3:150480877-150481319	GM12878	blood:	n/a	n/a
25	ZEB1	chr3:150480835-150481295	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr3:150480689-150482186	MCF-7	breast:	n/a	n/a
27	GATA3	chr3:150480575-150482134	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:150480590-150482029	H1-neurons	neurons:	n/a	n/a
29	ATF3	chr3:150480649-150481492	A549	lung:	n/a	n/a
30	MAX	chr3:150480555-150482120	HepG2	liver:	n/a	n/a
31	MAX	chr3:150480762-150482061	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr3:150480098-150482035	HL-60	blood:	n/a	n/a
33	ZNF143	chr3:150480751-150482001	Hela-S3	cervix:	n/a	chr3:150481561-150481571 chr3:150480758-150480768
34	FOXA2	chr3:150480713-150481587	A549	lung:	n/a	n/a
35	MAX	chr3:150480493-150482029	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUN	chr3:150480978-150481237	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF1	chr3:150480685-150481520	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr3:150479623-150483088	GM19193	blood:	n/a	n/a
39	POLR2A	chr3:150480625-150482081	PANC-1	pancreas:	n/a	n/a
40	RCOR1	chr3:150480802-150482014	HepG2	liver:	n/a	n/a
41	MAX	chr3:150479554-150482049	Hela-S3	cervix:	n/a	n/a
42	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
43	PML	chr3:150480946-150481578	GM12878	blood:	n/a	chr3:150481378-150481386 chr3:150481396-150481405
44	TAF1	chr3:150480077-150481642	HepG2	liver:	n/a	n/a
45	EP300	chr3:150480714-150481450	T-47D	breast:	n/a	chr3:150480752-150480768 chr3:150480776-150480792
46	CTCF	chr3:150479370-150482380	A549	lung:	n/a	chr3:150480869-150480882
47	TBL1XR1	chr3:150480991-150482024	K562	blood:	n/a	n/a
48	POLR2A	chr3:150478964-150483373	HepG2	liver:	n/a	n/a
49	GATA1	chr3:150480755-150481995	PBDE	blood:	n/a	n/a
50	CREB1	chr3:150480631-150481389	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
2	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
3	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
4	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
5	chr16:70557100..70557644-chr3:150481159..150481806,2	Hela-S3	cervix:
6	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
7	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
8	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
9	chr1:153963076..153963645-chr3:150480602..150481470,2	Hela-S3	cervix:
10	chr3:150481130..150481712-chr3:156892681..156893423,2	Hela-S3	cervix:
11	chr16:18812446..18813204-chr3:150480815..150481315,2	Hela-S3	cervix:
12	chr20:30194436..30195217-chr3:150481124..150482095,2	Hela-S3	cervix:
13	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
14	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
15	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
16	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
17	chr16:691658..692362-chr3:150480554..150481520,2	Hela-S3	cervix:
18	chr14:105957367..105958177-chr3:150481138..150481891,2	Hela-S3	cervix:
19	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
20	chr20:62496000..62496902-chr3:150480890..150481564,2	Hela-S3	cervix:
21	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
22	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
23	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
24	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:
25	chr3:150481125..150481655-chr9:127420519..127421247,2	HCT-116	colon:
26	chr1:147735548..147736307-chr3:150480950..150481574,2	HCT-116	colon:
27	chr1:1821467..1822293-chr3:150480860..150481460,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SIAH2	TF binding region
ENSG00000186468	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000078369	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000224020	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000197727	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000199879	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000172366	Chromatin interaction
ENSG00000252498	Chromatin interaction
ENSG00000205464	Chromatin interaction
ENSG00000244668	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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv592036	chr3:150478018-150481236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
3	esv1820145	chr3:150478018-150487945	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3420624	chr3:150478562-150482960	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3375203	chr3:150479287-150481835	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv12398	chr3:150480568-150481293	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	n/a
7	nsv592040	chr3:150480595-150481236	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	n/a
8	nsv592042	chr3:150480646-150481236	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	n/a
9	nsv592044	chr3:150480697-150481236	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:150478000-150482200	Active TSS	Thymus	Thymus
3	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
4	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
5	chr3:150478200-150482000	Active TSS	Ovary	ovary
6	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
8	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
9	chr3:150478200-150482400	Active TSS	Placenta	Placenta
10	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
11	chr3:150478400-150482000	Active TSS	HSMM	muscle
12	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
14	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:150478600-150481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:150478600-150482000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:150478600-150482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:150478600-150482200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:150478600-150482200	Active TSS	Aorta	Aorta
20	chr3:150478600-150482400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:150478600-150482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:150478800-150481600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:150478800-150481600	Active TSS	HMEC	breast
24	chr3:150478800-150481800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:150478800-150481800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr3:150478800-150482000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:150478800-150482000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr3:150478800-150482000	Active TSS	K562	blood
29	chr3:150478800-150482200	Active TSS	Psoas Muscle	Psoas
30	chr3:150478800-150482200	Active TSS	NHLF	lung
31	chr3:150479000-150481400	Active TSS	Fetal Muscle Trunk	muscle
32	chr3:150479000-150481600	Active TSS	Duodenum Mucosa	Duodenum
33	chr3:150479000-150481800	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr3:150479000-150482000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:150479000-150482200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr3:150479000-150482200	Active TSS	Brain Germinal Matrix	brain
37	chr3:150479200-150481600	Active TSS	NH-A	brain
38	chr3:150479200-150481600	Active TSS	NHEK	skin
39	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:150479200-150481800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:150479200-150481800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr3:150479200-150481800	Active TSS	Rectal Smooth Muscle	rectum
44	chr3:150479200-150482000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:150479200-150482000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:150479200-150482000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr3:150479200-150482200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr3:150479200-150482200	Active TSS	Fetal Muscle Leg	muscle
49	chr3:150479200-150482200	Active TSS	A549	lung
50	chr3:150479200-150482400	Active TSS	Fetal Intestine Large	intestine

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