Variant report

Variant	rs548166900
Chromosome Location	chr3:158289303-158289304
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	MAX	chr3:158288657-158290566	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:158288582-158289392	SK-N-MC	brain:	n/a	n/a
3	E2F6	chr3:158288700-158289608	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
4	E2F6	chr3:158288579-158289569	A549	lung:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
5	MAX	chr3:158288584-158289753	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr3:158288780-158289697	HEK293-T-REx	kidney:	n/a	n/a
7	MAX	chr3:158288702-158289568	A549	lung:	n/a	n/a
8	POLR2A	chr3:158288559-158289331	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr3:158288657-158289366	Gliobla	brain:	n/a	n/a
10	E2F6	chr3:158288503-158289660	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
11	E2F6	chr3:158288648-158290616	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
12	POLR2A	chr3:158288657-158289723	MCF-7	breast:	n/a	n/a
13	PML	chr3:158288680-158289356	K562	blood:	n/a	n/a
14	RCOR1	chr3:158288536-158289405	K562	blood:	n/a	n/a
15	MAX	chr3:158288572-158289630	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:158288591-158289389	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr3:158288724-158289551	K562	blood:	n/a	n/a
18	NR2F2	chr3:158288450-158289482	K562	blood:	n/a	n/a
19	TBP	chr3:158288447-158289362	K562	blood:	n/a	n/a
20	MAX	chr3:158288371-158289667	A549	lung:	n/a	n/a
21	CREB1	chr3:158288549-158289377	K562	blood:	n/a	chr3:158288897-158288910
22	MAZ	chr3:158288637-158289672	IMR90	lung:	n/a	n/a
23	CBX3	chr3:158288527-158289669	K562	blood:	n/a	n/a
24	POLR2A	chr3:158288565-158289304	H1-neurons	neurons:	n/a	n/a
25	MXI1	chr3:158288266-158289563	IMR90	lung:	n/a	chr3:158288859-158288874 chr3:158288857-158288872
26	NFYA	chr3:158288607-158289308	K562	blood:	n/a	n/a
27	POLR2A	chr3:158288539-158289358	U87	brain:	n/a	n/a
28	MAZ	chr3:158288477-158289585	K562	blood:	n/a	n/a
29	JUND	chr3:158288667-158289337	K562	blood:	n/a	chr3:158288899-158288908 chr3:158289317-158289328
30	MAX	chr3:158288665-158289594	MCF-7	breast:	n/a	n/a
31	HCFC1	chr3:158288665-158289351	K562	blood:	n/a	n/a
32	GTF2F1	chr3:158288739-158289378	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr3:158288632-158289385	SK-N-SH	brain:	n/a	n/a
34	MAX	chr3:158289181-158289675	K562	blood:	n/a	n/a
35	MAX	chr3:158288455-158289656	HCT-116	colon:	n/a	n/a
36	RCOR1	chr3:158288574-158289398	K562	blood:	n/a	n/a
37	E2F6	chr3:158288630-158291153	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
38	POLR2A	chr3:158288307-158289452	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr3:158288721-158289588	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr3:158288498-158289653	HCT-116	colon:	n/a	n/a
41	POLR2A	chr3:158288443-158289396	IMR90	lung:	n/a	n/a
42	MAX	chr3:158288626-158289525	SK-N-SH	brain:	n/a	n/a
43	MAX	chr3:158288654-158289659	ECC-1	luminal epithelium:	n/a	n/a
44	MYC	chr3:158288687-158289510	MCF10A-Er-Src	breast:	n/a	n/a
45	SETDB1	chr3:158288664-158289344	K562	blood:	n/a	chr3:158288945-158288969
46	POLR2A	chr3:158288629-158290805	K562	blood:	n/a	n/a
47	ZNF143	chr3:158288610-158289384	H1-hESC	embryonic stem cell:	n/a	chr3:158288947-158288965
48	MAX	chr3:158288642-158289558	K562	blood:	n/a	n/a
49	MAX	chr3:158288610-158289667	K562	blood:	n/a	n/a
50	RFX5	chr3:158288241-158289510	SK-N-SH	brain:	n/a	chr3:158288858-158288873 chr3:158288855-158288870 chr3:158288859-158288868 chr3:158288856-158288870 chr3:158288858-158288873 chr3:158288858-158288873

No.	Distal block	Cell Line	Cell type
1	chr3:158257580..158259389-chr3:158289106..158290845,2	K562	blood:
2	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:
3	chr3:158257580..158259170-chr3:158289106..158290622,2	K562	blood:

Variant related genes	Relation type
ENSG00000243150	TF binding region
ENSG00000168827	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	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1013242	chr3:158275578-158305894	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1013112	chr3:158280085-158301728	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1001944	chr3:158280085-158305210	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999408	chr3:158280085-158316431	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3327979	chr3:158288708-158291006	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158288200-158289400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr3:158288200-158289600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:158288200-158290000	Active TSS	Brain Substantia Nigra	brain
4	chr3:158288200-158290200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:158288200-158290600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:158288400-158289400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr3:158288400-158289400	Active TSS	Aorta	Aorta
8	chr3:158288400-158289400	Flanking Active TSS	NH-A	brain
9	chr3:158288400-158289600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:158288400-158289600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:158288400-158289600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:158288400-158289600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:158288400-158289600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr3:158288400-158289600	Active TSS	Psoas Muscle	Psoas
15	chr3:158288400-158289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:158288400-158290000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr3:158288400-158290000	Active TSS	Brain Germinal Matrix	brain
18	chr3:158288400-158290000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:158288400-158290200	Active TSS	Right Ventricle	heart
20	chr3:158288400-158290400	Active TSS	Fetal Kidney	kidney
21	chr3:158288400-158292000	Active TSS	Right Atrium	heart
22	chr3:158288600-158289400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:158288600-158289400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:158288600-158289400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
25	chr3:158288600-158289400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr3:158288600-158289400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:158288600-158289400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:158288600-158289400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:158288600-158289400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr3:158288600-158289400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:158288600-158289400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:158288600-158289400	Flanking Active TSS	Liver	Liver
33	chr3:158288600-158289400	Active TSS	Esophagus	oesophagus
34	chr3:158288600-158289400	Active TSS	Gastric	stomach
35	chr3:158288600-158289400	Active TSS	Lung	lung
36	chr3:158288600-158289400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr3:158288600-158289400	Active TSS	Spleen	Spleen
38	chr3:158288600-158289400	Flanking Active TSS	HUVEC	blood vessel
39	chr3:158288600-158289600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr3:158288600-158289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:158288600-158289600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr3:158288600-158289600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr3:158288600-158289600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr3:158288600-158289600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:158288600-158289600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr3:158288600-158289600	Active TSS	Rectal Mucosa Donor 29	rectum

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