Variant report

Variant	rs200422252
Chromosome Location	chr3:121265233-121265234
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	CEBPB	chr3:121264767-121265991	A549	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
2	CTCF	chr3:121264809-121265939	GM12878	blood:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
3	SP1	chr3:121264467-121265329	A549	lung:	n/a	chr3:121264900-121264913 chr3:121264845-121264854 chr3:121264844-121264855
4	SIX5	chr3:121264551-121266074	A549	lung:	n/a	n/a
5	REST	chr3:121264520-121265244	A549	lung:	n/a	n/a
6	MXI1	chr3:121263658-121266103	IMR90	lung:	n/a	n/a
7	TAF1	chr3:121264524-121265296	GM12878	blood:	n/a	n/a
8	MAFK	chr3:121264673-121265901	K562	blood:	n/a	n/a
9	TBP	chr3:121264658-121265786	Hela-S3	cervix:	n/a	n/a
10	KAP1	chr3:121264240-121265888	HEK293	kidney:	n/a	n/a
11	TBP	chr3:121264703-121265371	GM12878	blood:	n/a	n/a
12	BCLAF1	chr3:121264580-121265251	GM12878	blood:	n/a	n/a
13	POLR2A	chr3:121264378-121265762	GM18951	blood:	n/a	n/a
14	REST	chr3:121264530-121265672	H1-neurons	neurons:	n/a	n/a
15	RAD21	chr3:121264782-121265968	IMR90	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
16	CEBPB	chr3:121264621-121266051	GM12878	blood:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
17	RFX5	chr3:121264718-121265324	GM12878	blood:	n/a	chr3:121264789-121264804
18	MYBL2	chr3:121264565-121265302	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:121263970-121265594	K562	blood:	n/a	n/a
20	SIN3AK20	chr3:121263953-121265775	MCF-7	breast:	n/a	n/a
21	CEBPB	chr3:121264666-121266054	MCF-7	breast:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
22	TAF1	chr3:121264429-121265239	A549	lung:	n/a	n/a
23	ZNF143	chr3:121264634-121265874	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:121264494-121265271	GM12878	blood:	n/a	n/a
25	E2F4	chr3:121263140-121265579	MCF10A-Er-Src	breast:	n/a	chr3:121264194-121264209 chr3:121264812-121264823
26	POLR2A	chr3:121264598-121265502	K562	blood:	n/a	n/a
27	HCFC1	chr3:121264036-121266047	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr3:121264469-121265473	A549	lung:	n/a	chr3:121264842-121264851
29	POLR2A	chr3:121263934-121265359	HL-60	blood:	n/a	n/a
30	GABPA	chr3:121264423-121265348	SK-N-SH	brain:	n/a	chr3:121264842-121264851
31	ZNF143	chr3:121264679-121265325	K562	blood:	n/a	n/a
32	GABPA	chr3:121264381-121265312	SK-N-SH	brain:	n/a	chr3:121264842-121264851
33	CHD2	chr3:121264746-121265283	HepG2	liver:	n/a	chr3:121264844-121264854
34	GTF2F1	chr3:121264677-121265941	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr3:121264238-121265938	A549	lung:	n/a	chr3:121264842-121264851
36	ATF2	chr3:121264561-121265245	GM12878	blood:	n/a	n/a
37	CTCF	chr3:121265200-121265350	BE2_C	brain:	n/a	n/a
38	POLR2A	chr3:121264084-121265406	GM12892	blood:	n/a	n/a
39	CEBPB	chr3:121264724-121265949	HepG2	liver:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
40	RAD21	chr3:121264604-121266123	SK-N-SH	brain:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
41	MAX	chr3:121264156-121265942	NB4	blood:	n/a	chr3:121264347-121264355 chr3:121264534-121264544
42	POLR2A	chr3:121264505-121265337	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr3:121264437-121265268	HUVEC	blood vessel:	n/a	n/a
44	ELF1	chr3:121264634-121265248	A549	lung:	n/a	n/a
45	MTA3	chr3:121264793-121265674	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:121264422-121265287	GM12892	blood:	n/a	n/a
47	IRF1	chr3:121264677-121265827	K562	blood:	n/a	n/a
48	E2F6	chr3:121264085-121265384	K562	blood:	n/a	chr3:121264768-121264779 chr3:121264194-121264209
49	BRCA1	chr3:121264554-121265265	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr3:121264034-121265267	SK-N-MC	brain:	n/a	n/a

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	chr3:121264895..121265445-chr3:121468081..121468931,2	HCT-116	colon:
4	chr3:121263813..121266298-chr3:122398939..122401596,2	K562	blood:
5	chr3:121265150..121267222-chr3:121267374..121269393,2	K562	blood:
6	chr3:121264298..121266034-chr3:122100794..122102974,2	MCF-7	breast:
7	chr3:121264839..121267237-chr3:122281910..122284575,2	MCF-7	breast:

Variant related genes	Relation type
POLQ	TF binding region
ENSG00000173230	Chromatin interaction
ENSG00000160124	Chromatin interaction
ENSG00000138496	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000173193	Chromatin interaction
ENSG00000163840	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:126 , 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	chr3:121263400-121265800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:121263400-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:121263400-121265800	Active TSS	K562	blood
6	chr3:121263600-121265400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:121263600-121265800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr3:121263600-121265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:121263600-121265800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:121263600-121265800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:121263600-121265800	Active TSS	Brain Germinal Matrix	brain
12	chr3:121263600-121265800	Active TSS	NH-A	brain
13	chr3:121263800-121265400	Active TSS	GM12878-XiMat	blood
14	chr3:121263800-121265600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr3:121263800-121265600	Active TSS	HSMM	muscle
16	chr3:121263800-121265800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:121263800-121265800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr3:121263800-121265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:121263800-121265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:121263800-121265800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:121263800-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:121263800-121265800	Active TSS	Fetal Brain Female	brain
23	chr3:121263800-121265800	Active TSS	Fetal Intestine Small	intestine
24	chr3:121263800-121265800	Active TSS	Hela-S3	cervix
25	chr3:121263800-121265800	Active TSS	NHDF-Ad	bronchial
26	chr3:121263800-121266000	Active TSS	Fetal Kidney	kidney
27	chr3:121263800-121266000	Active TSS	A549	lung
28	chr3:121264000-121265600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:121264000-121265600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:121264000-121265600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:121264000-121265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:121264000-121265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:121264000-121265800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:121264000-121265800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr3:121264000-121265800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:121264000-121265800	Active TSS	Fetal Intestine Large	intestine
37	chr3:121264000-121265800	Active TSS	Thymus	Thymus
38	chr3:121264000-121265800	Active TSS	HSMMtube	muscle
39	chr3:121264200-121265600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr3:121264200-121265600	Bivalent/Poised TSS	HepG2	liver
41	chr3:121264200-121265800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:121264200-121265800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:121264200-121265800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr3:121264200-121265800	Active TSS	Brain Substantia Nigra	brain
45	chr3:121264200-121265800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:121264200-121265800	Active TSS	Psoas Muscle	Psoas
47	chr3:121264200-121266000	Flanking Active TSS	Liver	Liver
48	chr3:121264400-121265400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:121264400-121265400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:121264400-121265600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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