Variant report

Variant	rs575769203
Chromosome Location	chr3:121264907-121264908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:422)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:422 , 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	CEBPB	chr3:121264767-121265991	A549	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
2	GATA3	chr3:121264590-121265068	T-47D	breast:	n/a	n/a
3	CTCF	chr3:121264809-121265939	GM12878	blood:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
4	SP1	chr3:121264467-121265329	A549	lung:	n/a	chr3:121264900-121264913 chr3:121264845-121264854 chr3:121264844-121264855
5	MAX	chr3:121264096-121265169	ECC-1	luminal epithelium:	n/a	chr3:121264347-121264355 chr3:121264534-121264544
6	POLR2A	chr3:121264572-121265048	HUVEC	blood vessel:	n/a	n/a
7	STAT3	chr3:121264760-121265000	MCF10A-Er-Src	breast:	n/a	n/a
8	YY1	chr3:121264383-121265028	ECC-1	luminal epithelium:	n/a	n/a
9	JUND	chr3:121264727-121265133	HepG2	liver:	n/a	n/a
10	E2F4	chr3:121264344-121265103	Hela-S3	cervix:	n/a	chr3:121264812-121264823
11	TAF1	chr3:121264694-121265062	GM12878	blood:	n/a	n/a
12	SIX5	chr3:121264551-121266074	A549	lung:	n/a	n/a
13	YY1	chr3:121264619-121265062	GM12878	blood:	n/a	n/a
14	REST	chr3:121264520-121265244	A549	lung:	n/a	n/a
15	MXI1	chr3:121263658-121266103	IMR90	lung:	n/a	n/a
16	TAF1	chr3:121264524-121265296	GM12878	blood:	n/a	n/a
17	REST	chr3:121264645-121265031	PANC-1	pancreas:	n/a	n/a
18	TAF1	chr3:121264540-121265091	K562	blood:	n/a	n/a
19	TAF1	chr3:121264706-121265032	GM12891	blood:	n/a	n/a
20	MAFK	chr3:121264673-121265901	K562	blood:	n/a	n/a
21	TBP	chr3:121264658-121265786	Hela-S3	cervix:	n/a	n/a
22	SIN3AK20	chr3:121264600-121264973	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr3:121264472-121265146	PANC-1	pancreas:	n/a	n/a
24	UBTF	chr3:121264434-121265069	K562	blood:	n/a	n/a
25	MAFK	chr3:121264606-121265022	Hela-S3	cervix:	n/a	n/a
26	IRF1	chr3:121264606-121265073	K562	blood:	n/a	n/a
27	RELA	chr3:121264512-121265082	GM19099	blood:	n/a	n/a
28	RFX5	chr3:121264613-121265172	Hela-S3	cervix:	n/a	chr3:121264789-121264804
29	SIN3AK20	chr3:121264489-121265073	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr3:121264682-121264990	GM12878	blood:	n/a	n/a
31	KAP1	chr3:121264240-121265888	HEK293	kidney:	n/a	n/a
32	TBP	chr3:121264703-121265371	GM12878	blood:	n/a	n/a
33	TCF12	chr3:121264420-121264985	GM12878	blood:	n/a	n/a
34	ELF1	chr3:121264671-121265129	HepG2	liver:	n/a	n/a
35	NFIC	chr3:121264692-121265093	HepG2	liver:	n/a	n/a
36	MAX	chr3:121264269-121265009	GM12878	blood:	n/a	chr3:121264347-121264355 chr3:121264534-121264544
37	SRF	chr3:121264429-121265223	MCF-7	breast:	n/a	chr3:121265097-121265111
38	BHLHE40	chr3:121264707-121265217	GM12878	blood:	n/a	n/a
39	CREB1	chr3:121264574-121265183	GM12878	blood:	n/a	n/a
40	BCLAF1	chr3:121264580-121265251	GM12878	blood:	n/a	n/a
41	EP300	chr3:121264745-121265176	GM12878	blood:	n/a	chr3:121264937-121264944
42	STAT5A	chr3:121264652-121265078	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:121264378-121265762	GM18951	blood:	n/a	n/a
44	E2F6	chr3:121264497-121265128	A549	lung:	n/a	chr3:121264768-121264779
45	FOS	chr3:121264766-121265084	MCF10A-Er-Src	breast:	n/a	n/a
46	JUND	chr3:121264700-121265095	A549	lung:	n/a	n/a
47	NFIC	chr3:121264566-121265142	GM12878	blood:	n/a	n/a
48	ELF1	chr3:121264302-121265178	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:121264416-121265044	MCF-7	breast:	n/a	n/a
50	REST	chr3:121264530-121265672	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121264903-121264953	HEK293	kidney:	embryo
2	chr3:121264903-121264953	Jurkat	blood:	n/a
3	chr3:121264903-121264953	SKMC	muscle:	n/a
4	chr3:121264903-121264953	AG09309	skin:	n/a
5	chr3:121264903-121264953	K562	blood:	n/a
6	chr3:121264903-121264953	BE2_C	brain:	n/a
7	chr3:121264903-121264953	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:121264903-121264953	PANC-1	pancreas:	n/a
9	chr3:121264903-121264953	HRCEpiC	kidney:	n/a
10	chr3:121264903-121264953	HCPEpiC	choroid plexus:	n/a
11	chr3:121264903-121264953	GM06990	blood:	n/a
12	chr3:121264903-121264953	HepG2	liver:	n/a
13	chr3:121264903-121264953	ovcar-3	ovarian:	n/a
14	chr3:121264903-121264953	ProgFib	skin:	n/a
15	chr3:121264903-121264953	IMR90	lung:	fetal
16	chr3:121264903-121264953	BJ	skin:	n/a
17	chr3:121264903-121264953	HCT-116	colon:	n/a
18	chr3:121264903-121264953	Hela-S3	cervix:	n/a
19	chr3:121264903-121264953	AoSMC	blood vessel:	n/a
20	chr3:121264903-121264953	PrEC	prostate:	n/a
21	chr3:121264903-121264953	LNCaP	prostate:	n/a
22	chr3:121264903-121264953	T-47D	breast:	n/a
23	chr3:121264903-121264953	HMEC	breast:	n/a
24	chr3:121264903-121264953	HCM	heart:	n/a
25	chr3:121264903-121264953	NT2-D1	testis:	n/a
26	chr3:121264903-121264953	H1-hESC	embryonic stem cell:	embryo
27	chr3:121264903-121264953	NB4	blood:	n/a
28	chr3:121264903-121264953	SK-N-SH_RA	brain:	n/a
29	chr3:121264903-121264953	HL-60	blood:	n/a
30	chr3:121264903-121264953	HRE	kidney:	n/a
31	chr3:121264903-121264953	AG04449	skin:	fetal
32	chr3:121264903-121264953	HAEpiC	amniotic membrane:	n/a
33	chr3:121264903-121264953	PFSK-1	brain:	n/a
34	chr3:121264903-121264953	HCF	heart:	n/a
35	chr3:121264903-121264953	NHDF-neo	bronchial:	n/a
36	chr3:121264903-121264953	A549	lung:	n/a
37	chr3:121264903-121264953	NHBE	bronchial:	n/a
38	chr3:121264903-121264953	MCF10A-Er-Src	breast:	n/a
39	chr3:121264903-121264953	HEEpiC	esophagus:	n/a
40	chr3:121264903-121264953	ECC-1	luminal epithelium:	n/a
41	chr3:121264903-121264953	Caco-2	colon:	n/a
42	chr3:121264903-121264953	AG10803	skin:	n/a
43	chr3:121264903-121264953	HNPCEpiC	eye:	n/a
44	chr3:121264903-121264953	SK-N-SH	brain:	n/a
45	chr3:121264903-121264953	SAEC	small airway:	n/a
46	chr3:121264903-121264953	GM12891	blood:	n/a
47	chr3:121264903-121264953	AG04450	lung:	fetal
48	chr3:121264903-121264953	SK-N-MC	brain:	n/a
49	chr3:121264903-121264953	U87	brain:	n/a
50	chr3:121264903-121264953	HIPEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121263260..121265570-chr3:121468289..121470216,2	K562	blood:
2	chr3:121264864..121267091-chr3:122101354..122103102,2	MCF-7	breast:
3	chr1:145382746..145383629-chr3:121264432..121265003,2	Hela-S3	cervix:
4	chr3:121261975..121264944-chr3:121467360..121470216,3	K562	blood:
5	chr3:121264895..121265445-chr3:121468081..121468931,2	HCT-116	colon:
6	chr3:121263813..121266298-chr3:122398939..122401596,2	K562	blood:
7	chr3:121264432..121265085-chr8:141467270..141468232,2	Hela-S3	cervix:
8	chr3:121264298..121266034-chr3:122100794..122102974,2	MCF-7	breast:
9	chr3:121264839..121267237-chr3:122281910..122284575,2	MCF-7	breast:

No data

Variant related genes	Relation type
POLQ	TF binding region
POLQ	CpG island
ENSG00000163840	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000138496	Chromatin interaction
ENSG00000173193	Chromatin interaction
ENSG00000167632	Chromatin interaction
ENSG00000173230	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000160124	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr3:121263000-121265600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:121263200-121265800	Active TSS	NHLF	lung
3	chr3:121263400-121265000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:121263400-121265000	Active TSS	HMEC	breast
5	chr3:121263400-121265800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:121263400-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:121263400-121265800	Active TSS	K562	blood
8	chr3:121263600-121265000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:121263600-121265400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:121263600-121265800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr3:121263600-121265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:121263600-121265800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:121263600-121265800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:121263600-121265800	Active TSS	Brain Germinal Matrix	brain
15	chr3:121263600-121265800	Active TSS	NH-A	brain
16	chr3:121263800-121265000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:121263800-121265000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:121263800-121265000	Active TSS	NHEK	skin
19	chr3:121263800-121265000	Active TSS	Osteobl	bone
20	chr3:121263800-121265200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:121263800-121265200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:121263800-121265200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:121263800-121265400	Active TSS	GM12878-XiMat	blood
24	chr3:121263800-121265600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr3:121263800-121265600	Active TSS	HSMM	muscle
26	chr3:121263800-121265800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:121263800-121265800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr3:121263800-121265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:121263800-121265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:121263800-121265800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:121263800-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:121263800-121265800	Active TSS	Fetal Brain Female	brain
33	chr3:121263800-121265800	Active TSS	Fetal Intestine Small	intestine
34	chr3:121263800-121265800	Active TSS	Hela-S3	cervix
35	chr3:121263800-121265800	Active TSS	NHDF-Ad	bronchial
36	chr3:121263800-121266000	Active TSS	Fetal Kidney	kidney
37	chr3:121263800-121266000	Active TSS	A549	lung
38	chr3:121264000-121265000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:121264000-121265600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:121264000-121265600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:121264000-121265600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:121264000-121265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:121264000-121265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:121264000-121265800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr3:121264000-121265800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr3:121264000-121265800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:121264000-121265800	Active TSS	Fetal Intestine Large	intestine
48	chr3:121264000-121265800	Active TSS	Thymus	Thymus
49	chr3:121264000-121265800	Active TSS	HSMMtube	muscle
50	chr3:121264200-121265200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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