Variant report

Variant	rs570671469
Chromosome Location	chr3:52280098-52280099
allele	C/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	POLR2A	chr3:52278923-52280296	GM19193	blood:	n/a	n/a
2	POLR2A	chr3:52279694-52280200	A549	lung:	n/a	n/a
3	POLR2A	chr3:52279597-52280387	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr3:52279571-52280158	PANC-1	pancreas:	n/a	n/a
5	ESR1	chr3:52280024-52280392	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr3:52279743-52280285	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:52279834-52280200	PFSK-1	brain:	n/a	n/a
8	RCOR1	chr3:52279910-52280194	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:52279565-52280316	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr3:52279453-52280393	H1-hESC	embryonic stem cell:	n/a	chr3:52279824-52279834
11	POLR2A	chr3:52279920-52280149	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr3:52279718-52280291	SK-N-SH	brain:	n/a	chr3:52279824-52279834
13	POLR2A	chr3:52279915-52280209	MCF-7	breast:	n/a	n/a
14	E2F6	chr3:52279743-52280345	A549	lung:	n/a	chr3:52279827-52279837
15	MAX	chr3:52279756-52280210	Hela-S3	cervix:	n/a	chr3:52279824-52279834
16	CCNT2	chr3:52279514-52280141	K562	blood:	n/a	chr3:52279685-52279694 chr3:52280077-52280086
17	TBP	chr3:52279913-52280396	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF2	chr3:52279905-52280119	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:52279434-52280252	GM12891	blood:	n/a	n/a
20	POLR2A	chr3:52279814-52280133	A549	lung:	n/a	n/a
21	MTA3	chr3:52279829-52280831	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:52279774-52280235	GM12878	blood:	n/a	n/a
23	ESR1	chr3:52280021-52280379	T-47D	breast:	n/a	n/a
24	HA-E2F1	chr3:52279535-52280287	MCF-7	breast:	n/a	chr3:52279827-52279837
25	MAZ	chr3:52280010-52280225	HepG2	liver:	n/a	n/a
26	TEAD4	chr3:52279786-52280292	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr3:52279866-52280131	SK-N-SH	brain:	n/a	n/a
28	BHLHE40	chr3:52279820-52280192	K562	blood:	n/a	chr3:52279883-52279899
29	TAF1	chr3:52279467-52280223	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr3:52279821-52280201	H1-hESC	embryonic stem cell:	n/a	chr3:52279824-52279834
31	POLR2A	chr3:52279555-52280480	HUVEC	blood vessel:	n/a	n/a
32	UBTF	chr3:52279503-52280197	K562	blood:	n/a	n/a
33	POLR2A	chr3:52279670-52280270	Hela-S3	cervix:	n/a	n/a
34	E2F6	chr3:52279451-52280361	H1-hESC	embryonic stem cell:	n/a	chr3:52279827-52279837
35	MAZ	chr3:52279475-52280319	K562	blood:	n/a	chr3:52279824-52279834
36	SIN3AK20	chr3:52279878-52280233	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr3:52279499-52280261	K562	blood:	n/a	chr3:52279827-52279837
38	POLR2A	chr3:52278806-52280260	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:52279203-52280263	GM18951	blood:	n/a	n/a
40	MAX	chr3:52279766-52280149	K562	blood:	n/a	chr3:52279824-52279834
41	POLR2A	chr3:52277954-52280665	GM12878	blood:	n/a	n/a
42	NRF1	chr3:52280016-52280192	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:52279887-52284777	Hela-S3	cervix:	n/a	n/a
44	MAX	chr3:52279337-52280574	H1-hESC	embryonic stem cell:	n/a	chr3:52279824-52279834
45	POLR2A	chr3:52279495-52280259	HUVEC	blood vessel:	n/a	n/a
46	MAZ	chr3:52278887-52280307	GM12878	blood:	n/a	chr3:52279824-52279834
47	MAX	chr3:52279261-52280339	ECC-1	luminal epithelium:	n/a	chr3:52279824-52279834
48	MXI1	chr3:52279418-52280105	GM12878	blood:	n/a	n/a
49	CHD2	chr3:52279767-52280224	Hela-S3	cervix:	n/a	chr3:52279886-52279896
50	MAX	chr3:52279391-52280369	SK-N-SH	brain:	n/a	chr3:52279824-52279834

No.	Distal block	Cell Line	Cell type
1	chr3:52278055..52281861-chr3:52310588..52314481,6	K562	blood:
2	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:
3	chr3:52278055..52281861-chr3:52310505..52315451,9	K562	blood:
4	chr3:52278407..52281355-chr3:52281666..52283628,3	MCF-7	breast:
5	chr3:52279829..52282973-chr3:52309699..52312689,5	MCF-7	breast:
6	chr3:52278070..52281652-chr3:52320199..52323338,4	MCF-7	breast:
7	chr3:52278312..52281288-chr3:52312020..52314246,3	MCF-7	breast:

Variant related genes	Relation type
PPM1M	TF binding region
ENSG00000168237	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000164088	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv876791	chr3:52269491-52286825	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	esv3369308	chr3:52279062-52280960	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52277600-52282000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:52278400-52280600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:52278800-52280800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:52278800-52281400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:52279000-52280400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:52279000-52280400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:52279000-52280600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr3:52279000-52280600	Enhancers	Fetal Heart	heart
9	chr3:52279000-52281400	Flanking Active TSS	Dnd41	blood
10	chr3:52279000-52281400	Active TSS	Osteobl	bone
11	chr3:52279000-52281800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:52279200-52280200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:52279200-52280200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr3:52279200-52280400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:52279200-52280400	Active TSS	Aorta	Aorta
16	chr3:52279200-52280400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:52279200-52280400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:52279200-52280600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:52279200-52280600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr3:52279200-52280600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr3:52279200-52280600	Active TSS	Fetal Kidney	kidney
22	chr3:52279200-52280800	Active TSS	Right Atrium	heart
23	chr3:52279400-52280200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:52279400-52280200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr3:52279400-52280200	Active TSS	Colon Smooth Muscle	Colon
26	chr3:52279400-52280200	Active TSS	Ovary	ovary
27	chr3:52279400-52280200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr3:52279400-52280200	Active TSS	Rectal Smooth Muscle	rectum
29	chr3:52279400-52280200	Active TSS	Small Intestine	intestine
30	chr3:52279400-52280400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:52279400-52280400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr3:52279400-52280400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:52279400-52280400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr3:52279400-52280400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr3:52279400-52280400	Active TSS	Lung	lung
36	chr3:52279400-52280400	Active TSS	NHDF-Ad	bronchial
37	chr3:52279400-52280600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:52279400-52281000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:52279600-52280200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr3:52279600-52280200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:52279600-52280200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:52279600-52280200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:52279600-52280200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr3:52279600-52280200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr3:52279600-52280200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:52279600-52280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:52279600-52280200	Bivalent Enhancer	Fetal Brain Male	brain
48	chr3:52279600-52280200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr3:52279600-52280200	Active TSS	Fetal Lung	lung
50	chr3:52279600-52280200	Active TSS	Fetal Stomach	stomach

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