Variant report

Variant	rs202069129
Chromosome Location	chr3:179371182-179371183
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	POLR2A	chr3:179370232-179372454	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:179370265-179371759	HL-60	blood:	n/a	n/a
3	HEY1	chr3:179370754-179371632	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:179370317-179371626	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:179371153-179371405	GM19238	blood:	n/a	n/a
6	YY1	chr3:179370741-179371949	SK-N-SH	brain:	n/a	chr3:179370761-179370772 chr3:179371439-179371448
7	TAF1	chr3:179371022-179371539	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:179371160-179371310	HepG2	liver:	n/a	n/a
9	NFIC	chr3:179370309-179371625	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr3:179370645-179371326	K562	blood:	n/a	chr3:179370761-179370772
11	YY1	chr3:179370902-179371536	SK-N-SH_RA	brain:	n/a	chr3:179371439-179371448
12	RAD21	chr3:179371032-179371550	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr3:179371017-179371367	SK-N-SH_RA	brain:	n/a	chr3:179371226-179371235
14	POLR2A	chr3:179370303-179371629	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:179370420-179371596	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:179370954-179371289	GM12892	blood:	n/a	n/a
17	YY1	chr3:179370676-179371387	GM12891	blood:	n/a	chr3:179370761-179370772
18	USF1	chr3:179371091-179371325	HepG2	liver:	n/a	chr3:179371226-179371235
19	SIN3A	chr3:179370381-179371712	GM12878	blood:	n/a	chr3:179371520-179371531
20	POLR2A	chr3:179370328-179371691	NB4	blood:	n/a	n/a
21	MTA3	chr3:179370953-179371723	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:179370247-179371543	MCF-7	breast:	n/a	n/a
23	MAX	chr3:179370094-179372626	HCT-116	colon:	n/a	chr3:179372121-179372130
24	POLR2A	chr3:179370847-179371643	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:179370392-179371528	Hela-S3	cervix:	n/a	n/a
26	RUNX3	chr3:179370072-179371843	GM12878	blood:	n/a	n/a
27	CTCF	chr3:179370248-179371478	GM12878	blood:	n/a	n/a
28	RCOR1	chr3:179371132-179371739	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr3:179371134-179371505	K562	blood:	n/a	n/a
30	POLR2A	chr3:179370304-179371660	GM18951	blood:	n/a	n/a
31	TAF1	chr3:179370461-179371472	HepG2	liver:	n/a	n/a
32	MAX	chr3:179370134-179371743	A549	lung:	n/a	n/a
33	USF1	chr3:179370993-179371419	SK-N-SH	brain:	n/a	chr3:179371226-179371235
34	SIN3AK20	chr3:179370276-179371736	SK-N-SH	brain:	n/a	n/a
35	YY1	chr3:179370529-179371425	GM12891	blood:	n/a	chr3:179370761-179370772
36	USF1	chr3:179371102-179371333	SK-N-SH_RA	brain:	n/a	chr3:179371226-179371235
37	SIN3AK20	chr3:179370118-179371808	MCF-7	breast:	n/a	n/a
38	POLR2A	chr3:179370251-179372409	IMR90	lung:	n/a	n/a
39	USF1	chr3:179371072-179371341	GM12878	blood:	n/a	chr3:179371226-179371235
40	FOXA1	chr3:179371140-179371557	T-47D	breast:	n/a	n/a
41	MAX	chr3:179370541-179371529	HepG2	liver:	n/a	n/a
42	POLR2A	chr3:179370935-179371316	GM12892	blood:	n/a	n/a
43	ZBTB7A	chr3:179370280-179371779	ECC-1	luminal epithelium:	n/a	chr3:179370729-179370738
44	TAF7	chr3:179370875-179371280	H1-hESC	embryonic stem cell:	n/a	n/a
45	UBTF	chr3:179370718-179371578	K562	blood:	n/a	n/a
46	TEAD4	chr3:179370139-179371544	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr3:179370170-179371655	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:179371017-179371784	GM12878	blood:	n/a	n/a
49	ELF1	chr3:179371173-179371354	K562	blood:	n/a	chr3:179371209-179371221 chr3:179371254-179371266
50	CTCF	chr3:179371140-179371290	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:172467247..172468788-chr3:179370430..179372469,2	MCF-7	breast:
2	chr3:179279377..179281917-chr3:179370859..179372461,2	K562	blood:
3	chr3:179279862..179282588-chr3:179370567..179372088,2	MCF-7	breast:

Variant related genes	Relation type
USP13	TF binding region
ENSG00000243977	TF binding region
ENSG00000136518	Chromatin interaction
ENSG00000114346	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3400340	chr3:179369683-179372231	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3450815	chr3:179370008-179372006	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr3:179369600-179372400	Active TSS	NHDF-Ad	bronchial
2	chr3:179369600-179372600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr3:179369800-179371800	Active TSS	Brain Cingulate Gyrus	brain
4	chr3:179369800-179372000	Active TSS	Stomach Smooth Muscle	stomach
5	chr3:179369800-179372200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:179369800-179372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:179369800-179372200	Active TSS	Fetal Brain Female	brain
8	chr3:179369800-179372400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:179369800-179372400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:179369800-179372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:179369800-179372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:179369800-179372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:179369800-179372600	Active TSS	HSMMtube	muscle
14	chr3:179370000-179371400	Active TSS	Duodenum Mucosa	Duodenum
15	chr3:179370000-179371400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr3:179370000-179371600	Active TSS	Adipose Nuclei	Adipose
17	chr3:179370000-179371600	Active TSS	Fetal Muscle Trunk	muscle
18	chr3:179370000-179371800	Active TSS	Brain Substantia Nigra	brain
19	chr3:179370000-179371800	Active TSS	Gastric	stomach
20	chr3:179370000-179372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:179370000-179372000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:179370000-179372000	Active TSS	Primary T cells from cord blood	blood
23	chr3:179370000-179372000	Active TSS	Brain Angular Gyrus	brain
24	chr3:179370000-179372000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr3:179370000-179372000	Active TSS	Fetal Lung	lung
26	chr3:179370000-179372000	Active TSS	Fetal Stomach	stomach
27	chr3:179370000-179372000	Active TSS	HMEC	breast
28	chr3:179370000-179372200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:179370000-179372200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr3:179370000-179372200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:179370000-179372200	Active TSS	Aorta	Aorta
32	chr3:179370000-179372200	Active TSS	Fetal Brain Male	brain
33	chr3:179370000-179372200	Active TSS	HSMM	muscle
34	chr3:179370000-179372600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr3:179370000-179372600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:179370000-179372600	Active TSS	Fetal Kidney	kidney
37	chr3:179370000-179372600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:179370000-179372800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:179370000-179372800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr3:179370000-179373000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:179370000-179373200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:179370200-179371400	Active TSS	Placenta	Placenta
43	chr3:179370200-179371600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:179370200-179371600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr3:179370200-179372000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:179370200-179372000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:179370200-179372000	Active TSS	Osteobl	bone
48	chr3:179370200-179372200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:179370200-179372200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:179370200-179372200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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